Social Events
Advocates Program

Session Listing


Tuesday, October 11

4:00 PM–5:00 PM

SESSION 1 – Opening Ceremony and Welcoming Remarks

Room 210, Level 2, Convention Center


Prepare to be "wowed" by the opening act: a performance by the artists from Cirque Éloize. They have channeled their talent and creativity into a 15-minute, high-energy show just for you! The opening ceremony will leave you breathless with anticipation as you prepare for an exciting 12th International Congress of Human Genetics.

Opening Performance (4:00 pm-4:15 pm): Cirque Éloize.

Welcome: Lynn B. Jorde (USA), ASHG President and Congress host; Yoichi Matsubara (Japan), IFHGS President; Judith G. Hall (Canada), ICHG President.

Welcoming Remarks: Alain Beaudet, President, Canadian Institute of Health Research (CIHR).

Official Opening of the Congress and Opening Remarks "2012 Is Almost Upon Us." Judith G. Hall (Canada), ICHG President.

Many ancient cultures and traditions have predicted 2012 to be a year of great change. Astronomic conjunctions are known to be occurring toward the end of 2012. The Mayan "Long Calendar" predicts the end of an era (rather than the end of the world). Truly we live in a time of phenomenal change and enormous opportunity. Genetics and Human Genetics sit in the center of a biologic revolution. Our present state of knowledge and communication skills reflect the need for new modes and models of collaboration, sustainability, economics, politics, governance, and transparency-what role could we in Human Genetics play at the dawn of a new era?

Introductions/Congress Overview: Judith Allanson (Canada), ICHG Secretary-General; Diana Bianchi (USA), ICHG 2011 Program Co-chair and David L. Nelson (USA), ICHG 2011 Program Co-chair.


Tuesday, October 11

5:00 PM–6:30 PM

SESSION 2 – Panel Discussion: Whole Genome Sequencing: To Do It or Not to Do It?

Room 210, Level 2, Convention Center


Moderator: Kevin Davies, Bio-IT World, USA


Panelists: James Lupski, Baylor Col. of Med., USA; Seong-Jin Kim, CHA Univ., South Korea; James Watson, Cold Spring Harbor Lab., USA; Marjolein Kriek, Leiden Univ., Netherlands.

As full-genome sequencing becomes more common, it is imperative that the human genetics community understands the personal implications of genome sequencing as well as the science. In this exciting opening session, four well-known geneticists whose genomes have been sequenced will be panelists in a discussion moderated by the author of "The $1000 Genome". The scientists will be asked why they decided to have their genomes sequenced and how it has affected their lives, professionally and personally. The discussion will cover both basic information and provocative questions, and the panel should ignite lively discussions that persist throughout the Congress.


Wednesday, October 12

8:00 AM–10:00 AM

SESSION 3 – Plenary Session on Epigenetics

Room 210, Level 2, Convention Center


Moderator: Yoichi Matsubara, Tohoku Univ. Sch. of Med., Japan


Mendelian expression of disease has been documented for more than a century, but the recognition of complex etiology of phenotypes resulting from developmental, epigenetic, and mitochondrial gene expression is much more recent. In this session, the speakers will explore multiple phenomena affecting the interplay between genes and complex disease, including the role of energy systems directed by mtDNA and nDNA. In addition, the stochastic establishment of epigenetic modifications, including DNA methylation and chromatin remodeling, will be presented. Examples of these processes in normal and abnormal phenotypic models will demonstrate new understandings of the challenges of clarifying how gene expression interacts with environmental factors to make genotype/phenotype correlations more complex.


8:00 Introduction. Y. Matsubara. Tohoku Univ. Sch. of Med., Japan.

8:05 Energyomics-energenomics: A mitochondrial etiology of common diseases. D. C. Wallace. Children's Hosp. of Philadelphia, USA.

8:45 Epigenetics and determining phenotype. E. Whitelaw. Queensland Inst. of Med. Res., Australia.

1/9:25 Identification of a mosaic activating mutation as the molecular basis of Proteus syndrome using massively parallel sequencing of affected tissues. L. G. Biesecker, M. J. Lindhurst, J. C. Sapp, J. K. Teer, J. J. Johnston, K. Peters, J. Turner, D. Bick, L. Blakemore, K. Brockman, P. Calder, M. Deardorff, D. B. Everman, R. M. Greenstein, B. M. Kato, K. M. Keppler-Noreuil, R. T. Miyamoto, K. Newman, S. Rothenberg, D. J. Schwartzentruber, V. Singhal, J. Upton, S. Wientroub, E. H. Zackai, P. G. Robey, P. L. Schwartzberg, T. N. Darling, L. L. Tosi, J. C. Mullikin.

2/9:40 Germline deletion of the miR-17~92 cluster causes developmental defects in human. J. Amiel, E. Yao, P. Callier, L. Faivre, V. Drouin, S. Cariou, A. Van Haeringen, D. Genevieve, A. Goldenberg, M. Oufadem, S. Manouvrier, A. Munnich, J. Alves Vidigal, S. Lyonnet, A. Henrion-Caude, A. Ventura, L. de Pontual.

9:55 Questions and answers. Y. Matsubara. Tohoku Univ. Sch. of Med., Japan.

Wednesday, October 12

10:30 AM–12:30 PM

Concurrent Invited Session I (4-9)

SESSION 4 – Deciphering Transgenerational Effects: From Molecular to Statistical Approaches

Room 517BC, Level 5, Convention Center


Moderators: Janet S. Sinsheimer, David Geffen Sch. of Med. at UCLA, USA
  Amanda E. Toland, The Ohio State Univ., USA


Despite GWAS success in finding genes associated with complex diseases and traits, the genetic architecture of these traits remains mainly unexplained. Possible explanations include transgenerational genetic and epigenetic effects. Transgenerational effects are implicated in infertility as well as in childhood and adult disorders as diverse as gestational diabetes mellitus, birth defects, and schizophrenia. However, approaches to understanding and detecting these effects are in their infancy. For example, the genetic studies of infertility are hampered by difficulties in applying standard genetic approaches to find the causative mutation. Hence, the genetic causes of most cases of human infertility remain elusive. Meanwhile, with the increased use of assisted reproduction, the transgenerational effects of human infertility need to be understood. In genetic epidemiology, detecting transgenerational effects raises difficult statistical challenges. Detection of joint maternal-fetal genetic effects requires development of cost-effective research designs and powerful but flexible statistical methods. This session presents an overview that spans molecular approaches to understanding transgenerational effects to statistical methods to detect them. Dr. Toland will begin with an overview of biological concepts that underpin transgenerational effects. The speakers will next focus on the genetic basis of core mechanisms as meiosis, recombination and epigenetic reprogramming during meiosis and the genetic basis of human infertility and ways it may affect the next generation's health. Dr. Sinsheimer will provide an epidemiological overview. The speakers will then examine epidemiological evidence for transgenerational effects in humans such as imprinting and maternal-fetal genotype incompatibility and statistical genetic approaches to detect these effects.


10:30 AM   Introduction. A. E. Toland. The Ohio State Univ., USA.

10:35 AM   The function of genome-wide meiosis-specific epigenetic marks in recombination. R. D. Camerini-Otero. NIDDK/NIH, USA.

10:55 AM   Epigenetic consequences of chromosomal translocations. A. K. Naumova. McGill Univ., Canada.

11:15 AM   Epidemiological overview. J. S. Sinsheimer. David Geffen Sch. of Med. at UCLA, USA.

11:20 AM   Intergenerational effects as risk factors for schizophrenia: The case of maternal-fetal genotype incompatibility. C. G. Palmer. David Geffen Sch. of Med. at UCLA, USA.

11:40 AM   Detecting complex genetic and environmental effects with case-control mother-child pair data. J. Chen. Univ. of Pennsylvania Sch. of Med., USA.

12:00 PM   Investigation of maternal effects, maternal-fetal interactions and parent-of-origin effects (imprinting), using mothers and their offspring. H. Cordell. Newcastle Univ., U.K.

12:20 PM   Discussion. A. E. Toland. The Ohio State Univ., USA.

Wednesday, October 12

10:30 AM–12:30 PM

Concurrent Invited Session I (4-9)

SESSION 5 – New Insights from Human Pain Genetic Studies

Room 511, Level 5, Convention Center


Moderator: Inna Belfer, Univ. of Pittsburgh, USA


Acute pain is adaptive and part of normal life; chronic pain is a disabling disease. Pain perception and chronicity are complex traits, affected by a number of environmental and genetic factors. The genetic basis of pain sensitivity in humans has been investigated intensively over the past 10 years leading to discovery of functionally significant polymorphisms which influence human pain. These findings offer new opportunities to understand the mechanisms of widespread painful disorders, and to facilitate its prevention. The recent development of genome-wide methods that incorporate the use of molecular, cellular, and genetic measurements into epidemiologic evaluations greatly promote the discovery rate and promise exciting new findings. Attendees will be exposed to novel findings and novel approaches in the field of pain genetics. New approaches to assessment and measurement of pain phenotypes and mapping of genetic loci to the common symptoms in the context of clinical pain syndromes will be discussed.


10:30 AM   Introduction. I. Belfer. Univ. of Pittsburgh, USA.

10:35 AM   Novel findings from genetic studies of pain: From rodent models to human clinical pain. M. Costigan. Harvard Med. Sch., Charlestown, USA.

10:55 AM   Comparative genomics approach using global functional analysis in Drosophila to identify new candidate genes for human pain genetic research. G. G. Neely. Garvan Inst. of Med. Res., Sydney, Australia.

11:15 AM   Genetic risks in development of chronic pain in humans. L. Diatchenko. Univ. of North Carolina at Chapel Hill, USA.

11:40 AM   Identification of the pain gene CACNG2 using an integrated whole genome-based approach. J. Nissenbaum. Hebrew Univ. of Jerusalem, Israel.

12:05 PM   COMT as a gold standard candidate gene for human pain research. I. Belfer. Univ. of Pittsburgh, USA.

12:25 PM   Questions and answers. I. Belfer. Univ. of Pittsburgh, USA.

Wednesday, October 12

10:30 AM–12:30 PM

Concurrent Invited Session I (4-9)

SESSION 6 – Beyond Genome-Wide Association Study: Integrating Transcriptome, Proteome, and Pathway Data in the Genetic Dissection of Complex Traits

Room 210, Level 2, Convention Center


Moderators: Marylyn D. Ritchie, Vanderbilt Univ., USA
  Nancy J. Cox, Univ. of Chicago, USA


Genomic technologies are generating dense, rich, high quality measures of genomic variation and full genome sequencing will only add to this wealth of data. Much of these data are deposited into national databases and/or made openly available to the research community with the goal that researchers can and will combine these data to develop new information and knowledge. Methodological advances in the analysis of these data and the ability to integrate these data across experiments have simply not kept pace with this flood of data. This critical need extends to integrating data, results, and approaches across studies and phenotypes, including a variety of data types such as proteomic, gene expression, imaging, clinical laboratory data, metabolomics, and pharmacogenomics. The current paradigm in biomedical research is that multiple studies are needed, exploring the question from different perspectives to elucidate architecture. It is imperative that analytic methods be developed to combine potential datasets in ways that will produce additional information such that the whole will be greater than the sum of the parts. The utility of our monumental investment in data generation will ultimately depend on having innovative strategies and study designs that make full use of multiple data sources in an integrated analytical framework. This session is devoted to discussing some of the latest advances in the integration of genomic data with other types of biological data to extract the maximal amount of information from genomic studies and enhance our ability to gain knowledge about the genetic architecture of common, complex traits.


10:30 AM   Introduction. N. J. Cox. Univ. of Chicago, USA.

10:35 AM   Function-based GWAS to enhance discovery. N. J. Cox. Univ. of Chicago, USA.

10:55 AM   Leveraging comprehensive annotations and pathway information in large scale genomic studies. N. J. Schork. The Scripps Res. Inst., La Jolla, USA.

11:15 AM   Network-based diagnosis and personalized medicine. T. Ideker. Univ. of California, San Diego, USA.

11:35 AM   Meta-dimensional analysis of phenotypes. M. D. Ritchie. Vanderbilt Univ., USA.

11:55 AM   Integrating interaction and pathway association analysis in genome-wide association studies. T. Becker. Univ. of Bonn, Germany.

12:15 PM   Questions and answers. M. D. Ritchie. Vanderbilt Univ., USA.

Wednesday, October 12

10:30 AM–12:30 PM

Concurrent Invited Session I (4-9)

SESSION 7 – Recent Genetic Advances in Motor Neuron Diseases: Promises and Hurdles to Clinical Interventions

Room 520, Level 5, Convention Center


Moderators: Lisa L. Baumbach-Reardon, Miller Sch. of Med., Univ of Miami Sch. of Med., USA
  Vincent Timmerman, Univ. of Antwerp, Belgium


Over the last 10-15 years, there have been major advancements in understanding of several classes of motor neuron diseases. As an increasing number of disease genes continue to be identified, the molecular basis of an increasing number of motor neuron diseases is also clarified. Interestingly, there is significant phenotypic overlap in some of these disorders, adding to the complexity of genetic diagnosis for these diseases. More importantly, common disease pathways are being identified, which suggest that similar therapeutic approaches may be applicable to certain disorders. In this session, an international panel of experts will discuss advances in clinical diagnoses, genetic testing, genetic counseling and pathophysiology of several related motor neuron diseases, as well as current and potential therapeutic approaches for clinical trials. Time will be allowed for audience participation.


10:30 AM   Introduction. L. L. Baumbach-Reardon. Miller Sch. of Med., Univ of Miami Sch. of Med., USA.

10:35 AM   Genetics, pathophysiology and therapeutic developments in SMA. A. Burghes. The Ohio State Univ., USA.

11:00 AM   Clinical and genetic update of spinal muscular atrophies. L. L. Baumbach-Reardon. Miller Sch. of Med., Univ of Miami Sch. of Med., USA.

11:25 AM   Update in CMT, distal SMA and overlapping phenotypes. V. Timmerman. Univ. of Antwerp, Belgium.

11:50 AM   Update in genetics and pathophysiology of amyotrophic lateral sclerosis: New genes and new insights. M. Strong. Schulich Sch. of Med. & Dent., London, Canada.

Wednesday, October 12

10:30 AM–12:30 PM

Concurrent Invited Session I (4-9)

SESSION 8 – Molecular Basis and Mechanisms of Recessively Inherited Forms of Osteogenesis Imperfecta (OI)

Room 517A, Level 5, Convention Center


Moderators: Peter H. Byers, Univ. of Washington, USA
  Deborah Krakow, UCLA, USA


To begin the era of understanding the clinical and genetic heterogeneity of osteogenesis imperfecta, Sillence proposed that OI be classified into four types, recessively inherited lethal and severe and progressive forms and two milder dominant forms. Within a few years the vast majority of individuals with OI, including those with lethal and severe and deforming varieties, were found to be heterozygous for mutations in type I collagen genes. Apparently recessive forms were explained by parental mosaicism for dominant mutations. And yet consanguinity was found in some families in which no mutations could be identified, and some sibships failed to yield mutations. In the last few years recessive mutations in genes involved in the collagen processing pathway were found in individuals with OI. While alterations in the amount and structure of type I procollagen made by cells from affected individuals were the expected biochemical phenotype, mutations in genes that encoded some proteins along the secretory and processing pathway, notably SERPINH1 and FKBP10, were found in individuals whose cells made apparently normal molecules. These findings predicted that the analysis of such families could identify the “least” change that gave rise to OI and create targets for more effective therapeutic intervention. Six genes have been identified in which mutations give rise to recessively inherited OI and further search will provide more. The ways these findings change the clinical understanding of OI, alter approaches to diagnosis, and provide the potential for new insights into mechanisms and treatment pathways are the subject of this workshop.


10:30 AM   Introduction. P. H. Byers. Univ. of Washington, USA.

10:40 AM   Molecular basis of OI that results from mutations in CRTAP, LEPRE1, and PPIB. G. Pals. VU Med. Ctr., Amsterdam, Netherlands.

11:00 AM   Inactivating mutation in SERPINH1, which encodes the collagen chaperone HSP47, result in severe OI. P. H. Byers. Univ. of Washington, USA.

11:20 AM   The broad phenotype spectrum of mutations in FKBP10--mild OI, scoliosis, contractures. D. Krakow. UCLA, USA.

11:40 AM   Implications of mutations that result in recessive forms of OI for treatment of all forms of OI. F. Rauch. Shriners Hospital for Children, Montreal, Canada.

12:00 PM   Animal models of OI: Substrates for the measure and development of therapies and mechanisms of disease. B. Lee. Baylor Col. of Med., USA.

12:20 PM   Questions and answers. D. Krakow. UCLA, USA.

Wednesday, October 12

10:30 AM–12:30 PM

Concurrent Invited Session I (4-9)

SESSION 9 – Genetic Instability in Development, Aging and Cancer

Room 517D, Level 5, Convention Center


Moderator: M. Stephen Meyn, Hosp. for Sick Children, Toronto, Canada


The past five years have seen rapid progress in our understanding of the molecular details of our cellular defenses against genetic instability. At the same time there is a growing body of evidence that these pathways not only protect against cancer, but facilitate normal development and prevent aging. In parallel with these new insights into the biology of genome stability pathways, our knowledge of the clinical significance of mutations and polymorphisms in the human genome stability genes has expanded beyond xeroderma pigmentosum, ataxia telangiectasia, dyskeratosis congenita and other classic Mendelian syndromes, with the recognition of the role played by genome stability gene variants and inter individual variation in DNA repair capacity in cancer and other human diseases. The four presentations in this session will survey recent developments in this rapidly moving field by: summarizing the roles that DNA break response genes play both in development and in degeneration of the nervous system; reviewing our current understanding of how nucleotide excision repair deficiencies affect growth, cancer susceptibility and aging; describing the critical role played by telomere maintenance in preventing anemia, myeloid dysplasia and leukemia; and critically analyzing recent findings regarding the role of rare genetic variants of DNA damage response genes in common cancer.


10:30 AM   Introduction. M. S. Meyn. Hosp. for Sick Children, Toronto, Canada.

10:45 AM   The role of DNA repair in neurologic development and disease. P. McKinnon. St Jude Children's Res. Hosp., USA.

11:11 AM   The DNA damage theory of aging — Evidence from nucleotide excision repair mutants. J. Hoeijmakers. Erasmus Univ. Med. Ctr., Netherlands.

11:37 AM   Telomere instability and human disease. P. Lansdorp. Terry Fox Lab., BC Cancer Agcy., Vancouver, Canada.

12:03 PM   The role of rare DNA repair gene variants in human cancer. S. Tavtigian. Univ. of Utah, USA.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 10 – Population Genetics

Room 210, Level 2, Convention Center


Moderators: Cornelia M. Van Duijn, Erasmus MC, Netherlands
  Andrew G. Clark, Cornell Univ., USA


3/4:15 The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Developing a novel fully-automated system to assay telomere lengths and preliminary results on a cohort of 100,000. K. Lapham, J. Lin, L. Fang, M. Kvale, B. Dispensa, S. Hesselson, L. Walter, D. Ludwig, S. Miles, S. Rowell, W. McGuire, S. Connell, C. Zau, D. Smethurst, P. Kwok, N. Risch, C. Schaefer, E. Blackburn.

4/4:30 Natural selection in the cholera endemic Ganges River delta region. E. Karlsson, A. Rahman, I. Shlyakhter, J. Harris, F. Qadri, P. Sabeti, R. LaRocque.

5/4:45 Contrasting human X-linked and autosomal variation in population-scale whole genome sequencing. A. Keinan, S. Gottipati, A. Siepel, A. G. Clark, L. Arbiza.

6/5:00 The geographic structure of allele sharing and rare variant diversity assessed from re-sequencing of 202 genes in 15,000 individuals. J. Novembre, D. Wegmann, M. Zawistowski, A. Rakshi, S. Gopalakrishnan, D. Kessner, P. St. Jean, L. Li, M. G. Ehm, J. Li, Y. Li, G. Abecasis, J. C. Whittaker, S. L. Chissoe, V. E. Mooser, M. R. Nelson, S. Zöllner.

7/5:15 A direct characterization of human mutation. J. X. Sun, A. Helgason, G. Masson, S. S. Ebenesersdóttir, H. Li, S. Mallick, N. Patterson, A. Kong, D. Reich, K. Stefansson.

8/5:30 Evolution and functional impact of human coding variation from deep sequencing of 2,440 exomes. A. W. Bigham, J. A. Tennessen, T. O’Connor, E. Kenny, S. McGee, R. Do, X. Liu, G. Jun, H. M. Kang, D. Jordan, G. Abecasis, E. Boerwinkle, S. Sunyaev, C. D. Bustamante, M. J. Bamshad, J. M. Akey on behalf of NHLBI Exome Sequencing Project.

9/5:45 Recent admixture in an Indian population of African ancestry and its potential in admixture mapping. A. Basu, A. Narang, P. Kumar, V. Rawat, A. Mukhopadhyay, D. Dash, M. Mukherjee, Indian Genome Variation.

10/6:00 A sequence-based approach to investigating balancing selection in classical human leukocyte antigen loci. P. G. Bronson, S. J. Mack, H. A. Erlich, M. Slatkin.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 11 – Genomics I: Structural Variation

Room 517BC, Level 5, Convention Center


Moderators: Heather Mefford, Univ. of Washington, USA
  Lars Feuk, Uppsala Univ., Sweden


11/4:15 An integrated map of genetic variation in over 1000 human genomes. G. McVean, 1000 Genomes Project Consortium.

12/4:30 Dysfunction is the normal state: Analysis of gene-disrupting variants in 1,094 human genomes. D. G. MacArthur, S. Balasubramanian, A. Frankish, N. Huang, L. Habegger, J. Morris, L. Jostins, C. A. Albers, J. Rosenfeld, E. Garrison, D. F. Conrad, M. A. DePristo, X. Mu, E. Khurana, K. Walter, R. Handsaker, S. B. Montgomery, J. K. Pickrell, Z. Zhang, J. C. Barrett, J. Harrow, M. E. Hurles, M. B. Gerstein, C. Tyler-Smith, 1000 Genomes Project Consortium.

13/4:45 Dual function of DNA sequences: Coding exons function as enhancers of nearby genes. N. Ahituv, E. J. Clowney, M. J. Kim, O. Agamy, S. L. Clarke, A. M. Wenger, J. Jeong, F. Gurrieri, D. B. Everman, C. E. Schwartz, J. L. R. Rubenstein, O. S. Birk, G. Bejerano, S. Lomvardas, R. Y. Birnbaum.

14/5:00 Genome copy number variation landscape in 68,000 humans and relevance to complex disease. J. T. Glessner, D. Hadley, K. Wang, J. Bradfield, C. Kim, F. Mentch, H. Qiu, E. Frackelton, J. Li, C. Hou, F. G. Otieno, K. Thomas, K. Seidler, R. Chiavacci, J. Connolly, G. Lyon, L. Tian, B. Keating, P. M. A. Sleiman, S. F. A. Grant, M. Li, H. Hakonarson.

15/5:15 Impact of rare copy number variation in autism spectrum disorders: Evidence from 2,000 screened trio families. D. Pinto, S. W. Scherer, Autism Genome Project Consortium.

16/5:30 A duplication CNV that protects against metabolic syndrome. W. Gu, M. Lacaria, P. Saha, L. Potocki, W. Bi, J. Yan, S. Girirajan, B. Burns, K. Walz, S. Elsea, L. Chan, J. Lupski.

17/5:45 Identification and characterization of structural variation breakpoints in an individual human genome sequence. A. W. C. Pang, J. R. MacDonald, O. Migita, L. Feuk, S. W. Scherer.

18/6:00 Sequencing of isolated sperm cells for direct haplotyping of a human genome. E. F. Kirkness, R. Grindberg, J. Yee-Greenbaum, C. R. Marshall, S. W. Scherer, R. S. Lasken, J. C. Venter.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 12 – Neurogenetics I: Autism

Room 517D, Level 5, Convention Center


Moderators: Laurie Weiss, Univ. of California, San Francisco, USA
  Jonathan Sebat, Univ. of California, San Diego, USA


19/4:15 Full exome sequencing of autism cases, families, and controls. B. M. Neale, C. Stevens, A. Sabo, E. Lim, K. Samoocha, A. Kirby, S. Purcell, J. Flannick, D. Muzny, I. Newsham, U. Nagaswamy, Y. Q. Wu, M. Wang, J. Reid, E. Boerwinkle, C. Boyko, S. Ripke, M. Rivas, M. Velankar, L. Wang, S. Gabriel, J. Buxbaum, B. Devlin, G. Schellenberg, J. Sutcliffe, R. Gibbs, M. J. Daly, ARRA Autism Sequencing Project.

20/4:30 Exome and targeted sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. B. J. O'Roak, E. Karakoc, L. Vives, S. Girirajan, I. Stanaway, A. Kumar, E. H. Turner, M. J. Rieder, D. A. Nickerson, R. Bernier, J. Shendure, E. E. Eichler.

21/4:45 Whole exome sequencing identifies novel changes in AP4M1, CDKAL1 and SYNGAP1 in extended multiplex autism families. H. N. Cukier, S. H. Slifer, J. M. Jaworski, P. L. Whitehead, J. L. Robinson, I. Konidari, W. F. Hulme, H. H. Wright, R. K. Abramson, J. E. Dallman, J. L. Haines, M. L. Cuccaro, J. R. Gilbert, M. A. Pericak-Vance.

22/5:00 Characterization of the function and regulation of the autism susceptibility 2 (AUTS2) gene. N. Oksenberg, L. Weiss, N. Ahituv.

23/5:15 Mutations in the SHANK1 synaptic scaffolding gene in autism spectrum disorder and intellectual disability. D. Sato, C. R. Marshall, A. C. Lionel, A. Prasad, D. Pinto, J. L. Howe, I. O’Connor, G. A. Rappold, V. Endris, R. Roeth, J. L. Michaud, F. F. Hamdan, B. Fernandez, W. Roberts, P. Szatmari, S. W. Scherer.

24/5:30 Mutation or deletion of the epigenetic regulator, MBD5, causes intellectual disability, epilepsy, and autism spectrum disorder. S. V. Mullegama, M. E. Talkowski, J. A. Rosenfeld, B. W. M. van Bon, Y. Shen, E. A. Repnikova, J. Gastier-Foster, D. L. Thrush, C. Chiang, C. Ernst, A. Lindgren, C. C. Morton, C. Astbury, L. A. Brueton, K. D. Lichtenbelt, L. C. Ades, M. Fichera, C. Romano, J. W. Innis, C. A. Williams, D. Bartholomew, M. I. Van Allen, A. Parikh, L. Zhang, R. E. Pyatt, L. G. Shaffer, S. Schwartz, B. B. A. de Vries, J. F. Gusella, S. H. Elsea.

25/5:45 Genome-wide DNA methylation profiling of monozygotic twins discordant for autism spectrum disorder. C. C. Y. Wong, L. C. Schalkwyk, E. L. Meaburn, A. Ronald, T. S. Price, R. Plomin, J. Mill.

26/6:00 Sequencing-based comprehensive genome and transcriptome analyses of velocardiofacial syndrome. A. E. Urban, Y. Zhang, X. Zhu, D. F. Levinson, S. M. Weissman.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 13 – Clinical Genetics I: Genotype-Phenotype Correlation in Syndromes

Room 517A, Level 5, Convention Center


Moderators: Poh-San Lai, National Univ. of Singapore, Singapore
  Gunnar Houge, Haukeland Univ. Hosp., Bergen, Norway


27/4:15 HDAC8 mutations in Cornelia de Lange syndrome. M. A. Deardorff, M. Bando, K. Saitoh, T. Itoh, Y. Katou, M. Kaur, L. Francey, J. J. Wilde, S. Ernst, D. Clark, K. E. Cole, P. M. Lombardi, K. Takagaki, T. Hirota, N. Nozaki, P. J. Willems, G. Gyftodimou, M. B. Petersen, N. Tyschenko, E. DeBaere, G. R. Mortier, G. Gillessen-Kaesbach, V. M. Siu, D. W. Christianson, F. J. Kaiser, L. G. Jackson, K. Shirahige, I. D. Krantz.

28/4:30 Mutations in RAD21 as a cause of a new cohesinopathy. F. J. Kaiser, D. Braunholz, J. Wilde, M. C. Gil-Rodriguez, M. Albrecht, D. Clark, A. Rampuria, W. Xu, I. D. Krantz, G. Gillessen-Kaesbach, H. Xu, J. A. Horsfield, M. A. Deardorff.

29/4:45 Pitt Hopkins syndrome: Further delineation of the neurological phenotype. Description of 32 novel patients and proposition of a diagnostic criteria score. S. Whalen, A. Jacquette, T. Gaillon, O. Moldovan, M. Rossi, F. Devillard, F. Giuliano, G. Soares, M. Mathieu-Dramard, A. Afenjar, C. Mignot, L. Burglen, L. Van Maldergem, S. Aftimos, G. Mancini, P. Dias, N. Philip, A. Goldenberg, M. Le Merrer, D. Josifova, A. Van Hagen, D. Lacombe, P. Edery, S. Dupuis-Girod, M.-P. Alex, D. Sanlaville, M. Goossens, J. Amiel, D. Héron, I. Giurgea.

30/5:00 Epidemiological features of Costello syndrome and cardio-facio-cutaneous syndrome: Findings from the first nationwide survey. Y. Abe, Y. Aoki, S. Kuriyama, H. Kawame, N. Okamoto, K. Kurosawa, H. Ohashi, S. Mizuno, T. Ogata, S. Kure, T. Niihori, Y. Matsubara.

31/5:15 Torwards the dissection of marfanoid syndromes with intellectual disability. L. Faivre, S. Lambert, H. Dindy, C. Ragon, M. Payet, C. Francannet, Y. Sznajer, A. Megarbane, N. Philip, P. Collignon, S. Odent, L. Pasquier, A. Toutain, R. Missotte, C. Baumann, M.-A. Delrue, C. Goizet, C. Thauvin-Robinet, S. Julia, Y. Dulac, G. Jondeau, B. Aral, C. Boileau, P. Callier.

32/5:30 Disruption of a long-distance regulatory region of SOX9 in isolated 46,XX and 46,XY disorders of sex determination. S. Benko, C. T. Gordon, R. Sreenivasan, D. Mallet, C. Tauvin-Robinet, A. Brendehaug, S. Thomas, O. Bruland, D. David, D. Sanlaville, P. Callier, F. Huet, A. Molven, A. Munnich, L. Faivre, J. Amiel, V. Harley, G. Houge, Y. Morel, S. Lyonnet.

33/5:45 Mutations in ANKRD11 cause KBG syndrome, a syndrome of intellectual disability, skeletal malformations and macrodontia. M. Tekin, A. Sirmaci, M. Spiliopoulos, F. Brancati, E. Powell, D. Duman, A. Abrams, G. Bademci, E. Agolini, S. Guo, B. Konuk, A. Kavaz, S. Blanton, M. C. Digilio, B. Dallapiccola, J. Young, S. Zuchner.

34/6:00 De novo nonsense mutations of ASXL1 cause Bohring-Opitz (Oberklaid-Danks) syndrome. A. Hoischen, B. W. M. van Bon, B. Rodríguez-Santiago, C. Gilissen, L. E. L. M. Vissers, P. de Vries, I. Janssen, B. van Lier, R. Hastings, S. F. Smithson, R. Newbury-Ecob, S. Kjaergaard, J. Goodship, R. McGowan, D. Bartholdi, A. Rauch, M. Peippo, J. M. Cobben, D. Wieczorek, G. Gillessen-Kaesbach, J. A. Veltman, H. G. Brunner, B. B. B. A. de Vries.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 14 – Chromosome Organization and Cancer Cytogenetics

Room 520, Level 5, Convention Center


Moderators: Mary Shago, Hosp. for Sick Children, Univ. of Toronto, Canada
  Marilyn M. Li, Baylor Col. of Med., USA


35/4:15 Rapid detection of copy number imbalances and balanced translocations in multiple myeloma by translocation array CGH. S. A. Morton, R. A. Schultz, M. L. Slovak, L. McDaniel, A. Furrow, J.-H. Han, J. Fink, U. Surti, N. Berry, K. Fagan, T. C. Brown, V. Cawich, C. Valentin, S. Minier, N. J. Neill, S. Byerly, T. Sahoo, L. G. Shaffer, B. C. Ballif.

36/4:30 Development and validation of a CGH microarray for clinical diagnosis of hematological malignancies. S. A. Yatsenko, S. M. Gollin, J. Hu, M. Sathanoori, U. Surti, A. Rajkovic.

37/4:45 Identification of a novel palindrome-mediated translocation associated with the t(3;8) of hereditary renal cancer. T. Kato, M. B. Sheridan, A. M. Hacker, H. Inagaki, T. W. Glover, S. E. Plon, H. A. Drabkin, R. M. Gemmill, H. Kurahashi, B. S. Emanuel.

38/5:00 The ETS gene family members: Relative positioning in normal human epithelial prostate cells and induction of nuclear reorganization. I. Tereshchenko, A. Vazquez, N. Kane-Goldsmith, D. Dvorzhinski, S. Huhn, S. Serrano, R. DiPaola, J. Tischfield.

39/5:15 Trisomy 21: A disease of chromatin architecture? A. Letourneau, S. B. Montgomery, D. Gonzalez, D. Robyr, C. Borel, E. Migliavacca, Y. Hibaoui, L. Farinelli, M. Gagnebin, E. Falconnet, S. Deutsch, S. Dahoun-Hadorn, J.-L. Blouin, A. Feki, R. Guigo, E. T. Dermitzakis, S. E. Antonarakis.

40/5:30 A model for the formation of 11q segmental amplifications or hsr based on structure defined by aCGH in leukemia. K. Reddy.

41/5:45 Mechanism of recurrent translocation t(11;22) initiated by cruciform conformation of palindromic sequences. H. Inagaki, T. Ohye, H. Kogo, M. Tsutsumi, T. Kato, M. Tong, B. S. Emanuel, H. Kurahashi.

42/6:00 Ectopic synapsis as a mediator of ectopic crossing-over: Inferences from genomic disorders. P. Liu, M. Lacaria, F. Zhang, M. Withers, P. J. Hastings, J. R. Lupski.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 15 – GeneticTesting and Counseling

Room 511, Level 5, Convention Center


Moderators: Alain Verloes, Hosp. Robert Debre, France
  Michele Ramsay, NHLS, Johannesburg, South Africa


43/4:15 Intragenic copy number changes detected by an exon-targeted array in patients with neurodevelopmental disorders. S. W. Cheung, C. Shaw, S.-H. L. Kang, J. Pham, A. Ester, P. Luke, P. M. Hixson, A. N. Pursley, P. M. Boone, C. A. Bacino, S. Lalani, F. Probst, W. Bi, A. L. Beaudet, J. R. Lupski, A. Patel, P. Stankiewicz.

44/4:30 Genome-wide testing the most frequent genetic diseases optimizes abnormal gene identity and test reliability. R. V. Lebo, W. W. Grody.

45/4:45 Bringing current research technology to the clinic: The Manton Center for Orphan Disease Research Gene Discovery Core. M. C. Connolly, J. Picker, I. A. Holm, A. H. Beggs, P. B. Agrawal.

46/5:00 Genetic diagnostics using next-generation sequencing: The CEO Genome Project. C. T. Caskey, M. L. Gonzalez-Garay.

47/5:15 An Internet-based approach to enhance genetic data discovery in ALS. C. Brownstein, T. Vaughan, P. Wicks.

48/5:30 National Thalassaemia Registry: An effective strategy for thalassaemia control. I. Ng, G. P. Tan, Y. M. Tan, H. Y. Law.

49/5:45 Understanding the psychosocial impact of Klinefelter syndrome. A. S. Herlihy, R. I. McLachlan, L. Gillam, J. L. Halliday.

50/6:00 The influence of genetic risk information on parental role identity in adolescent girls and young women from families with Fragile X syndrome. A. McConkie-Rosell, E. M. Heise, G. A. Spiridigliozzi.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 16 – Statistical Genetics I: Functional Consequences of Genetic Variation

Room 516, Level 5, Convention Center


Moderators: Camilla Day, CIDR/NIH, USA
  Adebowale Adeyemo, Howard Univ., USA


51/4:15 Multivariate linkage analysis points to a shared genetic component between mycobacteria-triggered TNF production and innate resistance to tuberculosis infection. A. Cobat, E. Hoal, E. Schurr, A. Alcais.

52/4:30 Major histocompatibility complex association to rheumatoid arthritis is explained by polymorphic amino acids in the binding grooves of HLA-DR, HLA-B, and HLA-DP. P. I. W. de Bakker, E. A. Stahl, X. Jia, L. Alfredsson, L. Padyukov, K. A. Siminovitch, L. Klareskog, J. Worthington, R. M. Plenge, P. K. Gregersen, S. Raychaudhuri.

53/4:45 Mulitple signals of association at known loci explain additional phenotypic variation and reveal complex patterns of association. T. M. Frayling, A. R. Wood, D. G. Hernandez, M. A. Nalls, H. Yaghootkar, J. R. Gibbs, L. W. Harries, S. Chong, M. Moore, M. N. Weedon, J. M. Guralnik, S. Bandinelli, A. Murray, L. Ferrucci, A. B. Singleton, D. Melzer.

54/5:00 Expression quantitative trait locus analysis in an experimental cohort identifies multiple loci strongly associated with the human response to influenza vaccination. L. Franco, K. L. Bucasas, J. M. Quarles, J. M. Wells, N. Arden, D. Niño, R. B. Couch, C. A. Shaw, J. W. Belmont.

55/5:15 Meta-analysis on eQTL mapping identify common and tissue-specific eQTLs in LCL, PBMC and skin tissues. H. Chen, J. Esparza, J. Ding, G. Abecasis, Y. Lee, M. F. Moffatt, W. O. C. Cookson, L. Liang.

56/5:30 Simultaneous clustering and significance testing of transcription factor binding predictions from gene expression data. K. S. Kompass, D. C. Beebe, J. S. Witte.

57/5:45 Quantifying significance of phenotype-genotype relationships when various sources of high throughput data on the same individuals are integrated. H. K. Im, E. R. Gamazon, M. E. Dolan, R. S. Huang, N. J. Cox.

58/6:00 GPU accelerated genotype imputation for low-coverage high-throughput whole-genome sequencing data. K. Wang, G. K. Chen.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 17 – Molecular Basis I: Skin and Inflammatory Disorders

Room 710A, Level 7, Convention Center


Moderators: Gail Herman, Nationwide Children's Hosp., USA
  Cisca Wijmenga, Univ. Groningen, Netherlands


59/4:15 Rare de novo and common variations implicate CARD14 as psoriasis susceptibility locus 2. C. T. Jordan, E. D. O. Roberson, L. Cao, K. C. Pierson, C. F. Yang, C. Ryan, R. P. Nair, Y. Liu, K. C. Duffin, Y. Chen, B. Feng, W. L. Hwu, P. E. Stuart, G. Hayashi, J. Y. Wu, C. R. Pullinger, J. P. Kane, C. Wise, L. Peddle, V. Chandran, P. Rahman, D. Gladman, G. G. Krueger, J. T. Elder, W. Liao, Y. T. Chen, R. Goldbach-Mansky, M. A. Lowes, A. Menter, A. M. Bowcock.

60/4:30 Clinical transcriptome sequencing and analysis of a patient with spiny follicular hyperkeratoses of unknown etiology. K. V. Fuentes Fajardo, C. E. Mason, M. Huizing, M. Nehrebecky, M. Turner, P. Zumbo, F. Gill, C. F. Boerkoel, A. R. Cullinane, W. A. Gahl.

61/4:45 Exome sequencing identifies rare recessive IL1F5 variants in generalised pustular psoriasis. A. Onoufriadis, M. A. Simpson, A. E. Pink, C. H. Smith, J. Knight, S. L. Spain, A. D. Burden, F. Capon, R. C. Trembath, J. N. Barker.

62/5:00 Genomic deletions in phospholipase Cγ2 define a new syndrome of cold urticaria, antibody deficiency and susceptibility to both autoimmunity and infection. M. J. Ombrello, E. F. Remmers, G. Sun, A. Freeman, H. Komarow, I. Aksentijevich, S. Datta, P. Torabi-Parizi, N. Subramanian, N. Romberg, T. D. Bunney, R. W. Baxendale, H. S. Kim, J. Ho, D. C. Douek, C. Gandhi, A. A. Wanderer, H. Lee, S. Nelson, K. V. Shianna, E. T. Cirulli, D. B. Goldstein, E. Long, S. Moir, E. Meffre, S. Holland, M. Katan, H. Hoffman, J. D. Milner, D. L. Kastner.

63/5:15 IL-36 receptor antagonist deficiency causes auto-inflammation and generalized pustular psoriasis. A. Smahi, P. Guigue, S. Marrakchi, B. R. Renshaw, A. Puel, X. Y. Pei, S. Fraitag, J. Zribi, E. Bal, C. Cluzeau, M. Chrabieh, J. E. Towne, J. P. Douangpanya, C. Pons, S. Mansour, V. Serre, H. Makni, N. Mahfoudh, F. Fakhfaf, C. Bodemer, J. Feingold, S. Hadj-Rabia, M. Favre, E. Genin, M. Sahbatou, H. Turki, J. L. Casanova, J. E. Sims, H. Bachelez, A. Munnich.

64/5:30 Mutations underlying exfoliative ichthyosis reveal a key role for the protease inhibitor cystatin A in keratinocyte adhesion. H. C. Hennies, D. C. Blaydon, D. Nitoiu, K. M. Eckl, R. Cabral, P. Bland, A. Zvulunov, D. P. Kelsell.

65/5:45 Ablation of TNF or TNFR1 rescues the skin phenotypes of heterozygous female mutant mice. Y. Gu, D. L. Nelson.

66/6:00 A mutation in KEAP1 causes familial multinodular goiter. R. Teshiba, T. Tajiri, K. Sumitomo, K. Masumoto, T. Taguchi, K. Yamamoto.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 18 – Biochemical Genetics

Room 710B, Level 7, Convention Center


Moderators: Hans Andersson, Tulane Univ. Med. Ctr., USA
  Nancy Braverman, McGill Univ., Canada


67/4:15 NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. T. Vilboux, T. C. Falik-Zaccai, Y. Zivony-Elboum, F. Gumruk, M. Cetin, M. Khayat, C. F. Boerkoel, N. Kfir, Y. Huang, D. Maynard, H. Dorward, K. Berger, R. Kleta, M. Arat, A. S. Freiberg, B. E. Kehrel, K. Jurk, P. Cruz, J. C. Mullikin, J. G. White, M. Huizing, W. A. Gahl, M. Gunay-Aygun.

68/4:30 A novel human peroxisome biogenesis disorder affecting peroxisome division. H. R. Waterham, M. S. Ebberink, J. Koster, I. Stolte-Dijkstra, F. J. van Spronsen, G. P. A. Smit, G. Visser, R. J. A. Wanders.

69/4:45 Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. J. C. Kim, D. Coelho, I. R. Miousse, S. Fung, M. du Moulin, I. Buers, T. Suormala, M. Stucki, P. Nürnberg, H. Thiele, N. Longo, M. Pasquali, E. Mengel, D. Watkins, E. A. Shoubridge, F. Rutsch, J. Majewski, M. Baumgartner, B. Fowler, D. S. Rosenblatt.

70/5:00 A homozygous mutation in the ganglioside biosynthetic enzyme, ST3GAL5, results in a severe autosomal recessive neurocutaneous condition and altered glycosphingolipids and O-linked glycan expression. C. Schwartz, L. Boccuto, Q. Zhang, F. Bartel, K. Aoki, X. Fan, R. Saul, A. Chaubey, H. Wang, R. Steet, M. Tiemeyer, X. Yong.

71/5:15 Mutations within a component of the oligosaccharyltransferase complex identified by next-generation sequencing are implicated in congenital disorders of glycosylation. M. A. Jones, B. G. Ng, P. He, M.-E. Losfeld, S. Bhide, D. Rhodenizer, E. L. H. Chin, M. He, H. H. Freeze, M. R. Hegde.

72/5:30 Whole exome sequencing identifies a novel mitochondrial enzyme as the gene responsible for combined malonic and methylmalonic aciduria. J. L. Sloan, J. J. Johnston, I. Manoli, R. J. Chandler, C. Krause, N. Carrillo-Carrasco, S. D. Chandrasekaran, J. R. Sysol, K. O'Brien, N. S. Hauser, J. C. Sapp, H. M. Dorward, M. Huizing, NIH Intramural Sequencing Center, B. A. Barshop, S. Berry, P. M. James, N. L. Champaigne, P. de Lonlay, V. Valayannopoulos, M. D. Geschwind, D. K. Gavrilov, W. L. Nyhan, L. G. Biesecker, C. P. Venditti.

73/5:45 Identification of mutations causing mitochondrial DNA depletion and translation defects by next-generation sequencing. S. C. Lim, S. E. Calvo, A. G. Compton, S. G. Hershman, T. Yamazaki, J. Sceneay, C. Sugiana, A. Laskowski, V. K. Mootha, D. R. Thorburn.

74/6:00 Achieving a novel dynamic in mitochondrial diseases: Identification of mitochondrial microRNAs. A. Henrion Caude, S. Bandiera, S. Ruberg, M. Girard, S. Hanein, A. Munnich, S. Lyonnet.

Wednesday, October 12

4:15 PM–6:15 PM

Concurrent Platform Session A (10-19)

SESSION 19 – Cardiovascular Genetics I: Complex Traits

Room 510, Level 5, Convention Center


Moderators: Stuart Macgregor, Queenland Inst. Med. Res., Australia
  Joanne Curran, Texas Biomed. Res. Inst., USA


75/4:15 Multiple novel loci conferring risk to coronary artery disease identified in a study of 63,253 cases and 126,820 controls. S. Kanoni, C. Willenborg, J. Thompson, K. Stirrups, C. Nelson, J. Danesh, J. Erdmann, A. Hamsten, S. Kathiresan, J. S. Kooner, R. Roberts, U. Thorsteinsdottir, H. Watkins, H. Schunkert, N. Samani, P. Deloukas for the CARDIoGRAMplusC4D Consortium.

76/4:30 Twenty-nine common variants associated with blood pressure and cardiovascular disease risk: The International Consortium for Blood Pressure Genome-Wide Association Studies. G. B. Ehret, P. B. Munroe, K. M. Rice, M. Bochud, A. D. Johnson, D. I. Chasman, A. V. Smith, M. D. Tobin, G. C. Verwoert, V. Pihur, N. R. G. Shrine, L. V. Wain, M. Boehnke, M. G. Larson, M.-R. Järvelin, B. M. Psaty, G. R. Abecasis, A. Chakravarti, P. Elliott, C. M. van Duijn, C. Newton-Cheh, D. Levy, M. J. Caulfield, T. Johnson on behalf of ICBP-GWAS Consortium.

77/4:45 A large-scale genome-wide association study of PR interval identifies 41 loci associated with atrial and atrioventricular conduction. A. Isaacs, J. van Setten, D. E. Arking, E. J. Rossin, D. S. Evans, V. Gudnason, C. Hayward, A. A. Hicks, Y. Jamshidi, K. Kerr, B. Krijthe, T. Lehtimäki, M. Müller, S. Padmanabhan, A. Parsa, O. Polasek, R. B. Schnabel, K. Stefansson, T. Tanaka, A. Teumer, K. Tarasov, S. Trompet, S. Ulivi, Vanderbilt Genomic Electronic Records, P. van der Harst, X. Yin, P. I. W. de Bakker, N. Sotoodehnia on behalf of PRIMA Consortium.

78/5:00 Association meta-analysis of correlated EKG traits detect novel loci that influence electrically active left ventricular cardiac mass. J. van Setten, A. Isaacs, D. E. Arking, J. C. Chambers, M. Eijgelsheim, C. Hayward, S. Hwang, Y. Jamshidi, K. Kerr, T. Lehtimäki, I. Mateo Leach, M. Mueller, O. Meirelles, A. Pfeufer, O. Polasek, N. J. Samani, A. V. Smith, R. Sorice, N. Sotoodehnia, T. Tanaka, A. Teumer, S. Trompet, S. Ulivi, P. I. W. de Bakker, P. van der Harst on behalf of QRS Voltage Consortium.

79/5:15 Metabonomic and genetic fine mapping reveal wide range of associations across metabolites in known lipid loci. T. Tukiainen, J. Kettunen, A. J. Kangas, L.-P. Lyytikäinen, P. Soininen, A.-P. Sarin, E. Tikkanen, P. F. O'Reilly, M. J. Savolainen, K. Kaski, A. Jula, T. Lehtimäki, M. Kähönen, J. Viikari, M. Jauhiainen, J. G. Eriksson, O. Raitakari, V. Salomaa, M.-R. Järvelin, M. Perola, A. Palotie, M. Ala-Korpela, S. Ripatti.

80/5:30 Meta-analysis of Metabochip SNPs identifies novel waist-hip ratio loci involved in adipogenesis and chronic inflammation disorders. D. C. Croteau-Chonka, T. Ferreira, D. Shungin, T. W. Winkler, R. Magi, R. J. Strawbridge, A. E. Locke, K. Fischer, T. Workalemahu, P. J. Griffin, C. C. White, A. U. Jackson, F. Day, M. C. Zillikens, I. Barroso, C. S. Fox, E. Ingelsson, M. I. McCarthy, K. E. North, E. K. Speliotes, P. W. Franks, L. A. Cupples, L. Qi, I. M. Heid, K. L. Mohlke, C. M. Lindgren, R. J. F. Loos, Genetic Investigation of Anthropometric Traits Consortium.

81/5:45 A human hormone sensitive lipase knockout: Window into mechanisms of dyslipidemia and diabetes. J. Albert, R. Horenstein, L. Yerges-Armstrong, U. Sreenivasan, S. Snitker, J. O'Connell, J. McLenithan, A. Shuldiner, C. Sztalryd, C. Damcott.

82/6:00 The 9p21.3 coronary artery disease risk genotype is associated with elevated serum levels of interferon alpha 21. N. A. M. Almontashiri, M. Fan, H. H. Chen, A. C. T. Teng, B. L. M. Cheng, R. McPherson, R. Roberts, A. F. R. Stewart.

Wednesday, October 12

6:15 PM–6:40 PM

SESSION 20 – ASHG Presidential Address: From Classroom to Courtroom to Clinic: Closing the Education Gaps in Human Genetics

Room 210, Level 2, Convention Center


Lynn B. Jorde
ASHG 2011 President
Univ. of Utah, USA

Human genetics is now applied in a wide variety of contexts, and the public profile of our science continues to grow steadily. This is a positive and gratifying trend. It reflects the fundamental significance of human genetics and its translational power. However, as human genetics becomes more popular, the risks of misunderstanding and misapplication increase. For example, a large proportion of physicians report that they do not fully understand the results of most genetic tests. Furthermore, these tests are sometimes promoted without adequate evidence of accuracy or validity. Genetic tests can offer important insights about disease, but much of the public perceives them to be more informative than they really are. To make informed decisions, healthcare practitioners, as well as the lay public, need practical information on the nature and value of genetic data.

In addition to its biomedical applications, our science has had a major impact in courtrooms throughout the world. Forensic DNA evidence is now used routinely in criminal cases, and it can help to convict the guilty and exonerate the innocent. Significant questions arise, however, about the value and desirability of forensic DNA databases (who should be included, and what information should be available?). Genetic testing for variants that may be associated with behavioral traits has been introduced in a number of criminal cases and has sometimes resulted in reduced sentences. Judges and juries are faced with increasingly complex evidence, and their decisions should be informed by high-quality science.

Ironically, some of this high-quality science remains largely unappreciated. The principle of evolution provides one of the most powerful explanatory frameworks in modern science, but it is often ignored or misrepresented. We should enhance the public's awareness of evolution by emphasizing its utility. Not only does evolution tells us about our past, it also helps to explain (and even to predict) important phenomena such as drug resistance and the origins of some common diseases.

As scientists and educators, we have many opportunities to communicate our research to other scientists and to the public. This presentation will highlight some of the ways in which we can use these opportunities to foster a realistic and healthy appreciation of the growing benefits of human genetics.


Wednesday, October 12

6:40 PM–6:50 PM

SESSION 21 – ASHG Award for Excellence in Human Genetics Education Presentation

Room 210, Level 2, Convention Center


The ASHG Award for Excellence in Human Genetics Education was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education. A monetary award and a plaque will be presented to the Education Award recipient.

Stylianos E. Antonarakis
Univ. of Geneva Med. Sch., Switzerland

Giovanni Romeo
Univ. of Bologna Med. Sch., Italy

Giovanni Romeo, MD, is honored as this year's recipient of the ASHG Award for Excellence in Human Genetics Education for his outstanding educational contributions to human and medical genetics. Through his efforts, students in Europe and around the world have benefited from programs that have been recognized internationally as being of exceptional quality and great importance to the advancement of the field. Dr. Romeo has made a consistent and dedicated effort over the past 25 years, very much in the tradition of his mentor Dr. Victor McKusick, in bringing the latest developments in human genetics to a wide array of trainees and faculty from around the world.

Giovanni Romeo is Professor of Medical Genetics at the University of Bologna Medical School in Italy. In 1988, he founded the European School of Genetic Medicine (ESGM) together with the late Dr. Victor McKusick, and he serves as its current Director. Over the last 24 years, the ESGM has become a focal point of human genetics education in Italy, Europe, and beyond. In addition, in 1995, Romeo founded and currently serves as President of the European Genetics Foundation (EGF), which is the only non-profit institution in Europe entirely dedicated to human genetics education.

Since its establishment in 1988, the ESGM has organized courses in several areas related to human genetics, from its first general Medical Genetics course, to more specific courses in Cytogenetics, Genetic Counseling, Cancer Genetics, and Statistical Genetics, among others, many of which have been sponsored by the European Society of Human Genetics. The courses run by ESGM have been attended by several thousand students and have had a tremendous impact on the practice and research of medical genetics far beyond Europe.

Not only have these courses provided a unique opportunity for many students to attend lectures from some of the most prominent scientists in the human genetics field, but they have directly affected the careers of many of these students by giving them the opportunity to interact with an excellent faculty of renowned scientists, often leading to long-lasting relationships. The success and growth of the European School of Genetic Medicine courses would not have been possible without the relentless work and dedication of Dr. Romeo.

The international nature of Dr. Romeo's educational efforts is probably best demonstrated by his visionary attempts to reach out to and integrate students and fellow scientists from North Africa and the Middle East. Many of the students from these regions who have graduated through the ESGM courses would have never otherwise had access to world-renowned human genetics experts such as those on the ESGM faculty and their extensive knowledge of the field.

In summary, Dr. Giovanni Romeo is an eminent human geneticist who has made—and continues to make—important contributions to the discipline as an educator, an experimental scientist, as head of research groups and academic institutes, as coordinator of national and international research programs, and as an active member of ASHG and other human genetics societies. The American Society of Human Genetics would like to recognize Dr. Romeo's continuing and dedicated effort and significant achievements in advancing human and medical genetics education by honoring him as this year's recipient of the ASHG Award for Excellence in Human Genetics Education.

For a list of past award winners, visit the ASHG Web site at


Wednesday, October 12

6:50 PM–7:00 PM

SESSION 22 – ASHG Victor A. McKusick Leadership Award Presentation

Room 210, Level 2, Convention Center


ASHG established this prestigious award in honor of Dr. Victor A. McKusick and his inspiring contributions to the human genetics field. The McKusick Leadership Award is presented to an individual whose professional achievements have fostered and enriched the development of the field of human genetics. Recipients of this award must exemplify the enduring leadership and vision required to ensure that the field of human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health. A plaque and a monetary award are presented to the Leadership Award recipient.

Huntington F. Willard
Duke Univ. Med. Ctr., USA

Leon E. Rosenberg
Professor, Princeton Univ., USA
Adjunct Professor, Yale Univ. Sch. of Med., USA

Leon E. Rosenberg, MD, was selected as the 2011 recipient of the American Society of Human Genetics' prestigious McKusick Leadership Award for his exemplary and inspiring contributions to and leadership in the field of human genetics. His influence as a leader in the Society and the positive impact that he has had on the human genetics community is demonstrated through both his scientific and academic achievements, as well as his contributions to shaping the future for young scientists and clinicians.

Dr. Rosenberg currently holds appointments as a Professor in the Department of Molecular Biology and the Woodrow Wilson School of Public and International Public Affairs at Princeton University, and as an Adjunct Professor of Genetics at Yale University School of Medicine. From 1991 to 1998, he served as Chief Scientific Officer of the Bristol-Myers Squibb Company, and President of the Bristol-Myers Squibb Pharmaceutical Research Institute, where he was responsible for worldwide pharmaceutical research and development.

Many of Dr. Rosenberg's contributions to the field of human genetics occurred during his 26 year tenure at Yale University, where he worked as a researcher, clinician, teacher, and administrator. In 1965, he was appointed Assistant Professor of Medicine at Yale, and in 1972, he was named Professor of Human Genetics, Pediatrics, and Medicine - the same year he helped establish Yale's Department of Human Genetics and became its first chairman. Dr. Rosenberg served as the Dean of the Yale University School of Medicine from 1984 to 1991.

Throughout his career, Dr. Rosenberg has been a prominent leader in the ASHG, and he has been involved in many different aspects of the human genetics community as a whole. Dr. Rosenberg served as president of the American Society of Human Genetics in 1980, and he was a member of the NAS committee that recommended undertaking the Human Genome Project. He is also a past president of the Association of American Physicians (AAP). His honors include election to the National Academy of Sciences and to the Institute of Medicine. He is a recipient of the Kober Medal from the AAP.

Dr. Rosenberg's basic and clinical research focus has been the biochemistry and genetic basis of disease, and he is a specialist in the study of inherited metabolic disorders in children. Rosenberg and his research team conducted pioneering studies on the molecular basis of several inherited disorders. He and his colleagues discovered that children with a potentially lethal disorder of organic acid metabolism suffer from defective metabolism of vitamin B12. They then went on to demonstrate that supplements of B12 were remarkably beneficial clinically. Furthermore, Rosenberg's work has also provided crucial insights into the basic mechanism by which proteins synthesized in the cytoplasm are transported into mitochondria. In this work, the X-linked disorder, ornithine transcarbamylase deficiency was critical.

The 2011 ASHG Leadership Award is also being presented to Dr. Rosenberg for his continued efforts in influencing national policy issues and for his leadership of numerous scientific committees and reports. Notably, he played an important role in shaping the future of human genetics research when he served as Chair of a congressionally-mandated committee of the Institute of Medicine that was charged with assessing the research priority-setting process at the National Institutes of Health (NIH).

The American Society of Human Genetics recognizes Dr. Leon Rosenberg as the 2011 recipient of the McKusick Leadership Award for his significant achievements and for his numerous and diverse contributions to human genetics that have had a wide-reaching, positive impact on shaping and advancing both basic and clinical genetics research, as well as public policy.

For a list of past award winners, visit the ASHG Web site at


Wednesday, October 12

7:00 PM–7:30 PM

SESSION 23 – ASHG Membership/Business Meeting and Announcement of the ASHG Trainee Award Winners and the C.W. Cotterman Award Winners

Room 210, Level 2, Convention Center


ASHG members and others are invited to attend and hear reports highlighting current Society business. The minutes of the previous meeting will be presented for approval. Committee chairs will report on their activities for the year and discuss future plans. Those retiring from positions of leadership will be thanked for their service.

The ASHG Trainee Award Winners and C.W. Cotterman Award Winners will be announced during the business meeting.

The C.W. Cotterman Awards are presented to pre-or postdoctoral trainees and ASHG members who are first authors of the best papers published in the American Journal of Human Genetics during the previous year. Each September, the editorial board of the Journal selects the articles that best represent outstanding contributions to the field of genetics. Two awards are presented annually.

For outstanding trainee research in 2011, ASHG awarded approximately 79 travel awards at $500 each to semifinalists, based on abstracts scores. Of those 79 semifinalists, 18 finalists (top scorers) also received complimentary registration. These 18 finalists' presentation slides/posters were reviewed by the ASHG Awards Committee and six winners have been chosen to receive an additional $400. The winners names will be announced during the business meeting.


Thursday, October 13

8:00 AM–10:00 AM

Concurrent Invited Session II (24-29)

SESSION 24 – Emerging Ethical Issues in Large-Scale International Genomics Research Collaborations

Room 511, Level 5, Convention Center


Moderators: Jean E. McEwen, NHGRI/NIH, USA
  Pilar N. Ossorio, Univ. of Wisconsin-Madison, USA


Large-scale genomics research projects—especially those that involve plans for the broad release of samples and data—raise many ethical issues. These issues are heightened in the context of international collaborations (for example, the International HapMap Project, the 1000 Genomes Project, and The Cancer Genome Atlas, and the International Human Microbiome Consortium), where different sets of cultural values and norms, and different legal and regulatory requirements, may have to be reconciled. For example, approaches to recruitment, informed consent, and individual autonomy and privacy vary considerably in different parts of the world. Attitudes about the role (if any) for community consultation or engagement and the appropriateness of particular research governance mechanisms can also differ. In addition, people in different parts of the world (and often even in the same part of the world) may have very different views about whether, or how, research results or incidental findings should be returned to participants in genomics research studies (where the samples and data have not been anonymized). The scope of the right to withdraw samples or data from repositories or databases is also an area of potential difference—especially where full realization of a project’s end goals depends on having the samples and data available through a central repository to multiple researchers over an extended period of time. This session will explore these and other ethical issues that arise in large-scale international genomics research collaborations. Perspectives will be presented from several continents and countries.


8:00 AM   Introduction. J. E. McEwen. NHGRI/NIH, USA.

8:05 AM   Ethical issues in international genomics research collaborations: Perspectives from Canada. B. M. Knoppers. McGill Univ., Canada.

8:25 AM   Ethical issues in international genomics research collaborations: Perspectives from Sub-Saharan Africa. C. Rotimi. NHGRI/NIH, USA.

8:45 AM   Ethical issues in international genomics research collaborations: Perspectives from the U.K. J. Kaye. Univ. of Oxford, U.K.

9:05 AM   Ethical issues in international genomics research collaborations: Perspectives from Japan. E. Suda. Natl. Inst. for Envrn. Studies, Tsukuba, Japan.

9:25 AM   Ethical issues in international genomics research collaborations: A global perspective. A. Chakravarti. Johns Hopkins Univ. Sch. of Med., USA.

Thursday, October 13

8:00 AM–10:00 AM

Concurrent Invited Session II (24-29)

SESSION 25 – Neurogenetic Pathways Underlying Speech and Language Disorders

Room 517D, Level 5, Convention Center


Moderators: Dennis Drayna, NIDCD/NIH, USA
  Simon E. Fisher, Max Planck Inst. for Psycholinguistics, Nijmegen, Netherlands


Recent exciting discoveries have begun to elucidate specific genetic risk factors that contribute to speech and language disorders, which include developmental verbal dyspraxia, specific language impairment, and stuttering. The session will bring together leaders in these areas to discuss the latest findings in humans and compare them with results from leading studies in animal models, with the goal of identifying similarities and differences in etiologies of this important group of disorders. The session will begin with a presentation by Dr. Dennis Drayna from the NIH on recent identification of the first genetic mutations underlying stuttering. The second talk will be by Dr. Simon Fisher, who is currently at Oxford but at the time of the Congress will be at the Max Planck Institute in Nijmegen. Dr. Fisher will provide an update on the area speech/language disorders caused by disruptions of the FOXP2 transcription factor. The third presentation will be made by Dr. Dianne Newbury from Oxford, who will focus on specific language impairment (SLI), describing the newly discovered role of variants in the ATPC2 and CMIP genes. The fourth presentation will be by Dr. Lucy Osborne from Toronto, who will discuss dosage sensitive genes on chromosome 7q11.23 that are involved in syndromes of speech and language impairment. These talks will be complemented by the final presentation by Dr. Constance Scharff from Berlin, who will discuss comparative studies in songbirds. This diverse group of speakers will thus cover the speech and language disorders whose molecular basis is best characterized at the present time. Moreover, the session will highlight the breadth of state-of-the-art approaches that are now being used to unravel the critical neurogenetic pathways in these disorders.


8:00 AM   Finding genetic variants that underlie stuttering. D. Drayna. NIDCD/NIH, USA.

8:24 AM   Neurogenetic pathways regulated by FOXP2, a gene mutated in speech and language disorder. S. E. Fisher. Max Planck Inst. for Psycholinguistics, Nijmegen, Netherlands.

8:48 AM   The role of ATP2C2 and C-MIP in specific language impairment. D. Newbury. Oxford Univ., St. John's Col., U.K.

9:12 AM   Functional analysis of dosage sensitive genes at 7q11.23 involved in syndromes of speech and language impairment. L. Osborne. Univ. of Toronto, Canada.

9:36 AM   Gene function analysis of FoxP2 in songbirds. C. Scharff. Free Univ. Berlin, Germany.

Thursday, October 13

8:00 AM–10:00 AM

Concurrent Invited Session II (24-29)

SESSION 26 – The Nucleus, a Transcription Factory

Room 517A, Level 5, Convention Center


Moderators: Alexandre Reymond, Univ. of Lausanne, Switzerland
  Bernice E. Morrow, Albert Einstein Col. of Med., USA


The establishment and maintenance of differential patterns of gene expression lie at the heart of phenotypic differences. It is thus essential to understand how accurate gene regulation is achieved, in spite of the highly repetitive and complex nature of the mammalian genome. Much work has been published on the cis-regulatory elements that affect gene function locally, as well as on the biochemistry of the transcription factors and chromatin-modifying complexes that influence gene expression. However, surprisingly little information is available about how these components are organized within the three-dimensional space of the nucleus. Similarly, the contribution of sequence variation has remained elusive. Technological advances are helping to identify the spatial relationships and interactions of genes and regulatory elements in the nucleus and revealing an unexpectedly extensive network of communication within and between chromosomes. Likewise, they are allowing pinpointing causative variants, as well as identifying the resulting modifications of the chromatin.


8:00 AM   Transcription and the nuclear periphery: Edge of darkness? W. Bickmore. MRC Human Genet. Unit, Edinburgh, U.K.

8:30 AM   Transcription factories and nuclear organization of the genome. P. Fraser. The Babraham Inst., Cambridge, U.K.

9:00 AM   DNase I hypersensitive sites comprehensively define regulatory DNA and encode epigenetic memory of developmental fate. J. A. Stamatoyannopoulos. Univ. of Washington, USA.

9:30 AM   Population genetics and genomics of cellular phenotypes. E. T. Dermitzakis. Univ. of Geneva, Switzerland.

Thursday, October 13

8:00 AM–10:00 AM

Concurrent Invited Session II (24-29)

SESSION 27 – Cancer Genomics

Room 210, Level 2, Convention Center


Moderators: Paul T. Spellman, Oregon Hlth. & Sci. Univ., Benicia, CA, USA
  Thomas J. Hudson, Ontario Inst. for Cancer Res., Canada


Rapid developments in cancer genomics between 2008 and 2010, including The Cancer Genome Atlas (TCGA) program from the United States and whole genome sequencing of leukemia, breast, lung, melanoma and other genomes, ushered a new era in cancer research leading to systematic studies of 25,000 cancer genomes, as described in the April 2010 Nature paper by the International Cancer Genome Consortium (ICGC). The ICGC projects aim to elucidate the genomic and epigenomic alterations found across 50 different types or subtypes of cancer – a feat that promises to reveal the molecular basis of the majority of cancers causing lethality across the world. By Fall of 2011 several of these projects will have made significant progress in the analysis of the tumor types. The session described presents the tumors that are likely to have made progress based on current projections from our ICGC and TCGA colleagues. Large-scale cancer genomics programs are changing the paradigm for cancer research by 1) providing detailed, comprehensive datasets through publicly accessible databases, 2) making genotype-phenotype correlations possible by providing genomic, clinical and pathologic data together in a single resource, 3) providing datasets of significant size to enable statistically significant discoveries at high resolution.


8:00 AM   Introduction. T. J. Hudson. Ontario Inst. for Cancer Res., Canada.

8:10 AM   The Cancer Genome Atlas. S. Gabriel. Broad Inst., Cambridge, MA, USA.

8:35 AM   The oral cancer genome. P. P. Majumder. Natl. Inst. of Biomed. Genomics, Kalyani, India.

9:00 AM   The Stomach Cancer Genome Project. Y. Lu. Beijing Inst. of Cancer Research, China.

9:25 AM   The pancreatic cancer genome. J. McPherson. Ontario Inst. for Cancer Res., Toronto, Canada.

9:50 AM   Questions and answers. P. T. Spellman. Oregon Hlth. & Sci. Univ., Benicia, CA, USA.

Thursday, October 13

8:00 AM–10:00 AM

Concurrent Invited Session II (24-29)

SESSION 28 – Translational Approaches to Mitochondrial Research

Room 520, Level 5, Convention Center


Moderator: Fernando Scaglia, Baylor Col. of Med., USA


Mitochondria, the energy reactors of the cell, have emerged as centers of attention in pathophysiology and the field of mitochondrial research has recently undergone a remarkable expansion. New and powerful strategies for investigation of human biochemistry are being applied to the study of mitochondrial energy production. These efforts include both the exploration of hundreds to thousands of candidate genes for human phenotypes and diseases and proteomics research. Moreover, other strategies such as functional complementation cloning techniques in cell lines from patients are allowing to identify and characterize the genes associated with defects in the mitochondrial translation system that synthesizes the essential structural components encoded in mtDNA. Recent discoveries have sparked renewed appreciation for the remarkably dynamic nature of these organelles. Mitochondria constantly fuse and divide, and are actively transported to specific subcellular locations. Fission and fusion are essential for mammalian development and defects in mitochondrial dynamics lead to neuronal disease. Mitochondrial dysfunction can underlie the pathological mechanism of common disorders. The hypothesis that human and animal tumors could be favored by the impairment in mitochondrial function resulting in a high rate of glycolysis under aerobic conditions has been recently validated by the finding of somatic mtDNA mutations in tumors. Further evidence has been provided by the implication of structural OXPHOS genes in cancer. The aim of this session will be to illustrate the recent advances in the translational aspects of research in mitochondrial biology.


8:00 AM   Introduction. F. Scaglia. Baylor Col. of Med., USA.

8:05 AM   The biogenesis and role of complex I in human disease. J. A. M. Smeitink. Radboud Univ., Nijmegen Med. Ctr., Netherlands.

8:30 AM   Characterization of new genes implicated in mitochondrial translation. E. A. Shoubridge. Montreal Neurol. Inst. and Hosp., McGill Univ., Canada.

9:00 AM   The role of mitochondrial dynamics in human disease. D. C. Chan. Caltech, USA.

9:30 AM   Choosing between glycolysis and oxidative phosphorylation: A tumor's dilemma? R. Rossignol. INSERM U688, Univ. Victor Segalen Bordeaux 2, France.

Thursday, October 13

8:00 AM–10:00 AM

Concurrent Invited Session II (24-29)

SESSION 29 – Changing Trends in Prenatal Diagnosis

Room 517BC, Level 5, Convention Center


Moderators: Louanne Hudgins, Stanford Univ., USA
  Diana Bianchi, Tufts Med. Ctr., USA


This session will review recent trends in prenatal diagnosis including significant advances in earlier screening and diagnostic testing for genetic disorders. The speakers will focus on the changing trends in prenatal genetic diagnosis, including a shift from screening and diagnosis in the second trimester to the first trimester. In particular, the utility and limitations of first trimester ultrasound will be reviewed. Exciting technologies on the horizon will also be reviewed, such as utilizing comparative genomic hybridization (CGH) to detect submicroscopic deletions and duplications in fetuses with multiple anomalies and noninvasive prenatal diagnosis for aneuploidy using cell-free fetal DNA from maternal blood.


8:00 AM   The big picture: Changing trends in prenatal diagnosis. M. Evans. Comprehensive Genetics, New York, USA.

8:30 AM   It's all detectable in a first trimester sonogram (or not!). R. D. Wilson. Univ. of Calgary, Canada.

9:00 AM   Array CGH in the prenatal setting: Indications and limitations. J. Vermeesch. Univ. of Leuven, Belgium.

9:30 AM   Sequencing maternal plasma DNA for non-invasive prenatal diagnosis. R. Chiu. Chinese Univ. of Hong Kong, SAR China.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 30 – Molecular Basis II: Intellectual Disability

Room 210, Level 2, Convention Center


Moderators: Santhosh Girirajan, Univ. of Washington, USA
  Tjitske Kleefstra, UMC St. Radboud, Netherlands


83/10:15 A novel and common X-linked inborn error of carnitine biosynthesis associated with autism. P. B. S. Celestino-Soper, S. Violante, E. Crawford, J. Ge, A. L. Hall, K. Lee, C. Lo, R. Luo, T. Moss, K. N. Mohan, R. Person, B. Sadikovic, C. A. Shaw, S. J. Sanders, M. W. State, D. Geschwind, J. Sutcliffe, R. J. A. Wanders, S. M. Leal, E. Cook, R. Goin-Kochel, F. M. Vaz, A. L. Beaudet.

84/10:30 Next-generation sequencing in 248 families with X-linked intellectual disability. V. M. Kalscheuer, H. Hu, S. A. Haas, J. Chelly, H. Van Esch, M. Raynaud, A. de Brouwer, T. Zemojtel, G. Froyen, S. G. M. Frints, F. Laumonnier, M. I. Love, N. Lebrun, M. Field, E. Haan, M. Corbett, G. Turner, M. Shaw, G. Gillessen-Kaesbach, U. Müller, A. Latos-Bieleńska, T. Kleefstra, K. Wrogemann, R. Ullmann, T. Jentsch, J. Gecz, A. Tzschach, H. van Bokhoven, W. Chen, H. H. Ropers.

85/10:45 Exome sequencing implicates de novo mutations in the actin genes ACTB and ACTG1 in Baraitser-Winter syndrome. J. B. Riviere, B. W. M. van Bon, A. Hoischen, B. J. O'Roak, S. S. Kholmanskikh, A. Verloes, D. Pilz, V. M. Siu, M. Rossi, O. A. Abdul-Rahman, J. F. Atkin, M. J. M. Nowaczyk, G. M. S. Mancini, M. E. Ross, J. Shendure, J. A. Veltman, H. G. Brunner, W. B. Dobyns.

86/11:00 Massive parallel sequencing of all human protein-coding genes identifies PACS1 as a new gene for a new intellectual disability syndrome. J. H. M. Schuurs-Hoeijmakers, L. E. L. M. Vissers, M. Holvoet, M. E. M. Swinkels, C. Gilissen, M. A. Willemsen, P. de Vries, J. A. Veltman, B. B. A. de Vries, H. van Bokhoven, A. P. M. de Brouwer, K. Devriendt, H. G. Brunner.

87/11:15 Autism- and intellectual disability-associated variations in the transcription factor ZBTB20 differentially alter dendritic and synaptic structure. A. K. Srivastava, Y. Luo, K. A. Jones, L. Dukes-Rimsky, S. M. Sowell, D. P. Srivastava, S. Ladd, B. R. DuPont, J. S. Collins, C. M. Wilson, C. Skinner, F. Gurrieri, R. E. Stevenson, E. Boyd, P. Penzes.

88/11:30 Mutation in ARID1B is a frequent cause of intellectual disability. A. Reis, J. Hoyer, A. B. Ekici, S. Endele, B. Popp, C. Zweier, A. Wiesener, E. Wohlleber, A. Dufke, C. Petsch, I. Göhring, A. M. Zink, G. Rappold, E. Schröck, D. Wieczorek, O. Riess, H. Engels, A. Rauch.

89/11:45 A novel dynamic mutation in AFF3 associated with developmental delay. F. Kooy, S. Metsu, L. Rooms, J. Gecz, D. R. FitzPatrick.

90/12:00 Using next-generation sequencing to investigate rare unidentified congenital disorders. A. C. Need, K. Schoch, Y. Hitomi, V. Shashi, D. B. Goldstein.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 31 – Statistical Genetics II: Expanding Genome-Wide Association Studies

Room 517BC, Level 5, Convention Center


Moderators: Saurabh Ghosh, Indian Statistical Inst., Kolkata, India
  Daniel Shriner, NHGRI/NIH, USA


91/10:15 Pre-phasing: A computationally efficient approach for imputing from new reference panels in genome-wide association studies. C. Fuchsberger, B. Howie, M. Stephens, G. Abecasis, J. Marchini.

92/10:30 Phasing of many thousands of genotyped samples. A. Williams, N. Patterson, D. Reich.

93/10:45 Sequencing genes in silico using single nucleotide polymorphisms from genome-wide association studies. X. C. Zhang, B. Zhang, S. S. Li, X. Huang, J. A. Hansen, L. P. Zhao.

94/11:00 The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Ethnic diversity, genetic structure, family relatedness and power of a GWAS in a cohort of 100,000. N. Risch, M. Kvale, T. Hoffmann, S. Hesselson, B. Dispensa, S. Rowell, L. Walter, C. Somkin, S. VandenEeden, C. Quesenberry, L. Croen, L. Kushi, R. Whitmer, C. Iribarren, M. Sadler, D. Ranatunga, L. Shen, M. Henderson, D. Smethurst, D. Ludwig, S. Sciortino, D. Olberg, A. Finn, P.-Y. Kwok, C. Schaefer.

95/11:15 Genome-wide study of autoimmune hypothyroidism using existing genomic data and electronic medical records. D. C. Crawford, J. C. Denny, M. D. Ritchie, M. A. Basford, Y. Bradford, H. S. Chai, R. L. Zuvich, L. Bastarache, P. Peissig, D. Carrell, J. Pathak, R. A. Wilke, L. Rasmussen, X. Wang, J. A. Pacheco, A. Kho, N. Weston, M. Matsumoto, K. M. Newton, R. Li, I. J. Kullo, C. Chute, R. L. Chisholm, E. B. Larson, C. A. McCarty, D. R. Masys, D. M. Roden, S. J. Bielinski, M. de Andrade.

96/11:30 Epidemiologic architecture for genes linked to environment: Serum vitamins A and E modify HDL-C, LDL-C, and triglyceride GWAS-identified associations in the National Health and Nutrition Examination Surveys. L. Dumitrescu, R. Goodloe, K. Brown-Gentry, D. C. Crawford.

97/11:45 A genome-wide association study meta-analysis reveals multiple loci implicated in sex hormone regulation. J. R. B. Perry, R. Haring, A. Koster, V. Lagou, L. Lyytikäinen, M. Mangino, A. Petersen, L. Stolk, D. Vaidya, L. Vandenput, V. Aalto, M. F. Wellons, C. He, N. C. Onland-Moret, C. Ohlsson, K. Lunetta on behalf of CHARGE+ Sex Hormone Consortium.

98/12:00 MultiPhen: Joint model of multiple phenotypes increases discovery in GWAS. P. F. O'Reilly, C. J. Hoggart, Y. Pomyen, P. Elliott, M. R. Jarvelin, L. J. Coin.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 32 – Evolutionary Genetics

Room 517D, Level 5, Convention Center


Moderators: Alkes Price, Broad Inst. and Harvard, USA
  Katsushi Tokunaga, Univ. of Tokyo, Japan


99/10:15 Type 2 diabetes risk alleles show extreme directional differentiation among human populations, compared to hundreds of other diseases. R. Chen, E. Corona, M. Sikora, J. T. Dudley, A. Moreno-Estrada, A. A. Morgan, G. B. Nilsen, S. E. Lincoln, C. D. Bustamante, A. J. Butte.

100/10:30 Demographic histories of African hunting-gathering populations inferred from genome-wide SNP variation. S. Soi, L. Scheinfeldt, C. Lambert, J. Hirbo, A. Ranciaro, S. Thompson, J. M. Bodo, A. Froment, M. Ibrahim, A. Juma, T. Nyambo, S. Omar, C. Wambebe, D. Meskel, G. Belay, S. A. Tishkoff.

101/10:45 Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. G. Bhatia, N. Patterson, B. Pasaniuc, N. Zaitlen, G. Genovese, S. Pollack, S. Mallick, S. Myers, A. Tandon, C. Spencer, C. D. Palmer, A. Adeyemo, M. Fornage, W. H. L. Kao, A. Ogunniyi, G. Papanicolaou, C. N. Rotimi, J. I. Rotter, B. Salako, B. O. Tayo, S. McCarroll, P. Sabeti, G. Lettre, P. D. Jager, J. Hirschhorn, X. Zhu, R. Cooper, D. Reich, J. G. Wilson, A. L. Price for CARe Analysis Core.

102/11:00 The evolution of SRGAP2: A gene specifically duplicated in the human lineage and associated with cortical development of the brain. M. Y. Dennis, X. Nuttle, P. H. Sudmant, F. Antonacci, S. Sajjadian, L. Vives, T. A. Graves, R. K. Wilson, F. Polleux, E. E. Eichler.

103/11:15 The remarkable evolution of ABO in primates. L. Segurel, E. E. Thompson, J. Lovstad, A. Venkat, S. Margulis, J. Moyse, S. Ross, K. Gamble, M. Przeworski, C. Ober.

104/11:30 Genomic reconstruction of an extinct population from next-generation sequence data: Insights from the Taìno Genome Project. J. K. Byrnes, J. L. Rodríguez-Flores, A. Moreno-Estrada, C. R. Gignoux, S. Gravel, W. Guiblet, F. Zakharia, J. Dutil, E. G. Buchard, T. K. Oleksyk, J. C. Martínez-Cruzado, C. D. Bustamante, 1000 Genomes Project Consortium.

105/11:45 Development of a panel of ancestry informative markers for Latin Americans from genome-wide data. J. M. Galanter, J. C. Fernandez, C. R. Gignoux, J. Barnholtz-Sloan, C. Fernandez-Rozadilla, A. Hidalgo-Miranda, P. Raska, C. Ruiz Ponte, Y. Ruiz, P. Taboada, L. Porras, A. Salas, I. S. Zolezzi, A. Bigham, G. Gutierrez, T. Grutsaert, F. Leon Velarde, L. Moore, E. Vargas, M. Cruz, J. Escobedo, C. Bustamante, M. Shriver, E. Ziv, E. González Burchard, R. Haille, E. Parra, A. Carracedo, LACE Consortium.

106/12:00 Dating ancient admixture: The date of gene flow from Neandertals into modern humans. S. Sankararaman, N. Patterson, S. Paabo, D. Reich, Neandertal Genome Analysis Consortium.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 33 – Perinatal and Reproductive Genetics

Room 517A, Level 5, Convention Center


Moderators: Cynthia Curry, Univ. of California, San Francisco, USA
  Edith Cheng, Univ. of Washington, USA


107/10:15 Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: A prospective study on 1166 consecutive clinical cases. F. Fiorentino, F. Caiazzo, S. Napoletano, L. Spizzichino, S. Bono, M. Sessa, A. Nuccitelli, A. Biricik, A. Gordon, G. Rizzo, M. Baldi.

108/10:30 Validation of single cell whole genome amplification for preimplantation genetic haplotyping and its application using DNA microarrays. G. Altarescu, H. El Harar, S. Zeligson, S. Perlberg, R. Beeri, D. Zeevi, T. Eldar-Geva, I. Varshaver, E. Margalioth, E. Levy-Lahad, P. Renbaum.

109/10:45 Are heterozygous carriers of cohesin mutations at an increased risk of aneuploidy? B. M. Murdoch, N. Owen, S. I. Nagaoka, T. J. Hassold, P. A. Hunt.

110/11:00 Human embryos with aneuploid cells documented at the cleavage stage undergo genetic correction during differentiation to the blastocyst stage. P. R. Brezina, A. Benner, R. Ross, A. Barker, K. Richter, G. R. Cutting, W. G. Kearns.

111/11:15 Mosaicism do not affect accuracy of 24 chromosomes preimplantation genetic screening on cleavage stage embryos. A. Biricik, F. Fiorentino, G. Kokkali, L. Rienzi, L. Spizzichino, S. Bono, A. Gordon, F. M. Ubaldi, K. Pantos.

112/11:30 The transcriptome of a human polar body accurately reflects its sibling oocyte. A. Reich, P. Klatsky, S. Carson, G. Wessel.

113/11:45 Fetal brain-specific transcripts are reproducibly found in amniotic fluid. L. Hui, K. L. Johnson, D. K. Slonim, D. W. Bianchi.

114/12:00 The effects of advanced paternal age on genetic risks are mediated through dysregulation of HRAS signaling in the testis. A. Goriely, S. J. McGowan, S. Pfeifer, A. Itani, G. A. T. McVean, A. O. M. Wilkie.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 34 – Genomics II: Disease in Populations

Room 520, Level 5, Convention Center


Moderators: Kathryn Burdon, Flinders Univ, Australia
  Emmanouil T. Dermitzakis, Univ. of Geneva, Switzerland


115/10:15 Interpreting disease-associated SNPs using epigenomics and comparative genomics signatures. M. Kellis.

116/10:30 Near complete characterization of genetic variation in the Kuusamo population isolate. K. Palin, K. Rehnström, O. Pietiläinen, J. Suvisaari, S. Ripatti, J. Lönnqvist, M. Perola, V. Salomaa, A. Palotie, R. Durbin.

117/10:45 Disease-gene identification and sex-specific mutation rate estimation from whole-genome sequence data on 21 individuals in a five-generation heart disease pedigree. C. D. Huff, H. Hu, J. C. Roach, J. Xing, A. F. A. Smit, G. Glusman, A. K. Holloway, V. Garg, B. Moore, R. Hubley, H. Li, S. Z. Montsaroff, D. E. Abbott, L. E. Hood, K. S. Pollard, L. B. Jorde, M. Yandell, D. J. Galas, D. Srivastava.

118/11:00 Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty-four Caucasians. J. G. Zhang, H. Shen, J. Li, C. Xu, Y. Jiang, Z. K. Wu, F. P. Zhao, L. Liao, Q. Tian, C. Papasian, H. W. Deng.

119/11:15 Mining the transcriptomes of malaria-infected children using joint genotypic and expression analysis. Y. Idaghdour, J. Quinlan, E. Gbeha, C. Rahimy, A. Sanni, P. Awadalla.

120/11:30 Whole exome sequencing of 258 individuals not selected for cancer history identifies high-penetrance cancer susceptibility gene mutations: A genomics-first screen. W. S. Rubinstein, J. J. Johnston, F. M. Facio, D. Ng, L. N. Singh, J. K. Teer, J. C. Mullikin, L. G. Biesecker.

121/11:45 Empirical assessment of imputation of coding variants using next-generation sequencing. N. Soranzo, Y. Memari, B. Zhang, J. Harris, G. Guo, S.-Y. Shin, G. Clement, H. He, V. Anttila, W. Jia, A. Valdes, B. Dougherty, F. M. Williams, T. Jiang, S. John, T. Spector.

122/12:00 Using whole-genome data to reveal distant relationships between individuals by maximum-likelihood analysis of genomic segments shared identically by descent. D. J. Witherspoon, C. D. Huff, J. Xing, L. B. Jorde.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 35 – Cytogenetics

Room 511, Level 5, Convention Center


Moderators: Catherine Rehder, Duke Univ., USA
  Josee Lavoie, Montreal Children's Hosp., Canada


123/10:15 Breakpoint signatures and complex chromosomal ‘shattering’ from apparently balanced germline karyotypes revealed by sequencing 82 rearrangement breakpoints. C. Chiang, A. Heilbut, C. A. Hanscom, C. Ernst, A. M. Lindgren, C. C. Morton, J. F. Gusella, M. E. Talkowski.

124/10:30 An evidence-based approach to guide the development of content on chromosomal microarrays and to support interpretation of clinically significant copy number variation. E. Thorland, E. Rooney Riggs, S. T. South, H. M. Kearney, E. Kaminsky, E. S. Williams, V. Horner, K. Hanson, R. M. Kuhn, D. M. Church, S. Aradhya, D. H. Ledbetter, C. Lese Martin, International Standards for Cytogenomic Arrays Consortium.

125/10:45 A large autism cohort reveals genomic imbalances associated with many known syndromic deletions and also those linked to potentially novel neurodevelopmental genes. S. Aradhya, D. M. Riethmaier, A. Fuller, B. Boggs, G. Richard, J. M. Meck.

126/11:00 Sequencing chromosomal rearrangements in autism and other developmental disorders reveals a complex genetic architecture across diagnostic boundaries. M. E. Talkowski, A. Heilbut, J. Rosenfeld, C. Hanscom, C. Chiang, C. Enrst, A. Lindgren, S. Ahsan, A. Kirby, D. Harris, B. Soloman, A. Gropman, D. Lucente, K. Sims, T. K. Ohsumi, M. L. Borowsky, J. Miles, B.-L. Wu, Y. Shen, L. G. Shaffer, M. J. Daly, C. C. Morton, J. F. Gusella.

127/11:15 High resolution prenatal array CGH: Improved detection, increased complexity. A. Breman, S. Darilek, A. Pursley, P. Ward, P. Hixon, W. Bi, C. Shaw, P. Stankiewicz, C. Bacino, C. Eng, A. Patel, J. R. Lupski, A. Beaudet, S. W. Cheung.

128/11:30 Patterns of recombination along nondisjoined and normally disjoined chromosomes 21 that exhibit multiple recombinant events on 21q. T. Oliver, S. W. Tinker, E. Graves Allen, N. Hollis, A. E. Locke, L. J. H. Bean, R. Chowdhury, F. Begum, M. Marazita, V. Cheung, E. Feingold, S. L. Sherman.

129/11:45 Somatic mosaicism of large chromosomal anomalies in blood cells of normal adults. C. C. Laurie, C. A. Laurie, K. Doheny, L. Zelnick, C. McHugh, J. Shen, X. Zheng, H. Ling, K. Hetrick, E. Pugh, D. Mirel, C. Amos, T. Beaty, L. Bierut, N. Caporaso, N. Freedman, E. Feingold, J. Li, C. Haiman, J. Heit, W. Lowe, T. Manolio, M. Marazita, J. Murray, L. Pasquale, G. Jarvik, I. Ruczinski, V. Seshan, B. Weir, GENEVA Consortium.

130/12:00 Identification of single gene alterations detected by whole-genome array comparative genomic hybridization. N. J. Neill, B. C. Ballif, J. B. Ravnan, B. S. Torchia, R. A. Schultz, J. Ellison, L. G. Shaffer.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 36 – Cancer Genetics I: Melanoma and Leukemia

Room 516, Level 5, Convention Center


Moderators: Florence Demenais, INSERM, France
  David Goldgar, Univ. of Utah, USA


131/10:15 Two novel loci for melanoma susceptibility on chromosome bands 1q42.12 and 1q21.3. S. Macgregor, M. Law, G. W. Montgomery, D. T. Bishop, C. I. Amos, Q. Wei, K. M. Brown, N. G. Martin, G. J. Mann, N. K. Hayward.

132/10:30 Pathway analysis of malignant melanoma identifies 30 pathways associated with melanoma cancer risk. C. E. Amos, L. Wang, W. V. Chen, S. Fang, J. E. Lee, Q. Wei.

133/10:45 Genome sequencing of melanoma families identifies a novel recurrent mutation in MITF predisposing to familial and sporadic melanoma. K. M. Brown, S. Yokoyama, S. MacGregor, A. E. Cust, J. Taylor, P. D. Pharoah, D. F. Easton, A. M. Dunning, J. A. Newton-Bishop, G. W. Montgomery, N. G. Martin, G. J. Mann, D. T. Bishop, H. Tsao, J. M. Trent, D. E. Fisher, N. K. Hayward.

134/11:00 An oncogenic MITF germline substitution p.E318K impairs sumoylation and predisposes to melanoma and renal carcinoma. B. Bressac- de Paillerets, F. Lesueur, S. Giuliano, M. de Lichy, K. Bille, B. d'Hayer, H. Mohamdi, A. Remenieras, E. Maubec, P. Vabres, L. Thomas, D. Zelenika, P. Galan, V. Chaudru, S. Richard, G. Lenoir, M. Lathrop, M.-F. Avril, F. Demenais, R. Ballotti, C. Bertolotto, French Familial Melanoma Study Group.

135/11:15 Melanoma exome sequencing identifies MEK1/2 as additional driver genes and potential predisposing variants in genes of DNA repair pathways. S. Nikolaev, D. Rimoldi, C. Iseli, A. Valsesia, C. Gehrig, K. Harshman, M. Guipponi, O. Bukach, V. Zoete, O. Michielin, K. Muehlethaler, D. Speiser, D. Robyr, J. S. Beckmann, I. Xenarios, T. D. Halazonetis, C. V. Jongeneel, B. J. Stevenson, S. E. Antonarakis.

136/11:30 Genome-wide association study of melanoma progression and blood biomarkers. S. Fang, L. Wang, J. Gershenwald, W. Chen, S. Vattathil, C. Schacherer, J. Gardner, Y. Wang, T. Bishop, J. Barrett, E. Grimm, C. McHugh, C. Laurie, K. Doheny, E. Pugh, Q. Wei, C. Amos, J. Lee.

137/11:45 Discovery of novel recurrent mutations in childhood early T-cell precursor acute lymphoblastic leukemia by whole genome sequencing. J. Zhang, L. Ding, L. Holmfeldt, G. Wu, S. L. Heatley, D. Payne-Turner, J. Easton, X. Chen, J. Wang, M. Rusch, C. Lu, J. R. Collins-Underwood, J. Ma, S. B. Pounds, M. Kleppe, J. Cools, M. L. Hermiston, K. A. Shimano, G. Basso, S. P. Hunger, M. L. Loh, B. Wood, S. Winter, K. P. Dunsmore, R. S. Fulton, L. Fulton, C.-H. Pui, R. K. Wilson, J. R. Downing, C. G. Mullighan, St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project.

138/12:00 GATA2 is a new predisposition gene for familial myelodysplastic syndrome and acute myeloid leukemia. H. S. Scott, C. N. Hahn, C. E. Chong, C. L. Carmichael, E. J. Wilkins, P. J. Brautigan, X. C. Li, M. Stankovic, M. Lin, A. Carmagnac, Y. K. Lee, C. H. Kok, L. Gagliardi, K. L. Friend, P. G. Ekert, C. M. Butcher, A. L. Brown, I. D. Lewis, L. B. To, A. E. Timms, J. Storek, S. Moore, M. Altree, R. Escher, P. G. Bardy, G. K. Suthers, R. J. D'Andrea, M. S. Horwitz.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 37 – Therapy for Genetic Disorders

Room 710A, Level 7, Convention Center


Moderators: Sihoun Hahn, Univ. Washington, USA
  Patricia Dickson, Univ. of California, Los Angeles, USA


139/10:15 Treating stiff skin syndrome: Study of a rare Mendelian disorder reveals novel therapeutic strategies for complex acquired scleroderma. E. E. Gerber, D. Huso, B. Loeys, E. Davis, F. Wigley, H. C. Dietz.

140/10:30 A liver-specific transgenic mouse model identifies new disease-associated biomarkers and establishes antioxidants as an ameliorative treatment for the renal disease of methylmalonic acidemia. E. Manoli, J. R. Sysol, L. Li, C. Garone, S. Young, J. L. Sloan, R. J. Chandler, V. Hoffmann, P. Zerfas, S. DiMauro, J. Schnermann, C. P. Venditti.

141/10:45 AAV-mediated gene transfer to skeletal muscle results in sustained reduction of hyperbilirubinemia in an animal model of Crigler-Najjar syndrome type 1. N. Pastore, R. Sepe, E. Nusco, F. Vetrini, A. Auricchio, N. Brunetti-Pierri.

142/11:00 Antisense oligonucleotide-mediated exon skipping restores primary cilia assembly in fibroblasts harbouring the common LCA CEP290 c.2991+1655G>A mutation. X. Gerard, I. Perrault, S. Hanein, E. Silva, K. Bigot, S. Defoort-Delhemmes, M. Rio, A. Munnich, D. Scherman, J. Kaplan, A. Kichler, J.-M. Rozet.

143/11:15 Interference of myostatin and TGF-beta signaling by antisense-mediated exon skipping as an adjunctive therapy for Duchenne muscular dystrophy. P. A. Hoen, D. U. Kemaladewi, W. M. Hoogaars, S. H. van Heiningen, A. Aartsma-Rus, P. ten Dijke, G. J. van Ommen.

144/11:30 Novel nitric oxide-directed treatment of urea cycle disorder for morbidity independent of hyerammonemia. A. Erez, S. Nagamani, M. Premkumar, P. Campeau, W. Mitch, L. Salviati, N. Bryan, B. Lee.

145/11:45 Correction of cystine and sialic acid storage in human cystinotic and ISSD fibroblasts by microvesicles derived from Sf9 cells infected with baculovirus containing the human sequence for cystinosin or sialin. J. Thoene, M. Witcher, J. Mullet, P. Courtoy, F. N'Kuli, P. Van Der Smissen, S. Hahn, S. Kerfoot.

146/12:00 The pathogenesis of hypoglycemia and cardiac disease in long-chain acyl-CoA dehydrogenase KO mice. S. M. Houten, A. J. Bakermans, H. J. Herrema, H. te Brinke, T. H. van Dijk, M. van Weeghel, D.-J. Reijngoud, J. J. Prompers, R. J. Wanders.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 38 – Pharmacogenomics

Room 710B, Level 7, Convention Center


Moderators: Thomas Urban, Duke Univ., USA
  Lin He, Shanghai Jiao Tong Univ., China


147/10:15 Pharmacogenomics of paclitaxel-induced cytotoxicity and apoptosis in lymphoblastoid cell lines and paclitaxel-induced peripheral neuropathy in patients from the Cancer and Leukemia Group B 40101 clinical trial. H. E. Wheeler, E. R. Gamazon, U. O. Njiaju, L. K. Gorsic, R. M. Baldwin, K. Owzar, E. Winer, C. Hudis, L. N. Shulman, M. J. Ratain, D. L. Kroetz, N. J. Cox, M. E. Dolan.

148/10:30 Optimizing drug outcomes through pharmacogenetics: A case for preemptive genotyping. J. Schildcrout, J. Denny, E. Bowton, W. Gregg, J. Pulley, M. Basford, J. Cowan, H. Xu, A. Ramirez, D. Crawford, M. Ritchie, J. Peterson, D. Masys, R. Wilke, D. Roden.

149/10:45 A nationwide program combining test facilitation for CYP2C19 genotyping and drug utilization review for patients on clopidogrel. L. A. Castle, W. B. Dreitlein, H. Kourlas, M. Khalid, J. F. Barlow, R. S. Epstein.

150/11:00 Genome-wide genetic determinants of lipid response to rosuvastatin therapy. D. Chasman, F. Giulianini, J. MacFadyen, B. Barratt, F. Nyberg, P. Ridker.

151/11:15 Predicting warfarin dosage in European and African Americans using DNA samples linked to an electronic health record. A. H. Ramirez, Y. Shi, J. S. Schildcrout, J. T. Delaney, H. Xu, M. T. Oetjens, R. L. Zuvich, M. A. Basford, E. Bowton, M. Jiang, R. Zink, J. Cowan, J. M. Pulley, M. D. Ritchie, J. F. Peterson, D. R. Masys, D. M. Roden, D. C. Crawford, J. C. Denny.

152/11:30 Pharmacogenetic genome-wide association analysis in the NORDIL study identifies 9 putative SNPs associated with systolic and diastolic blood pressure response. K. A. Pettigrew, O. Melander, C. Newton-Cheh, A. F. Dominiczak, S. Padmanabhan, Glasgow - Malmö Extreme BP Consortium.

153/11:45 Personalized medicine study of Chinese population. S. Qin, L. Shen, Y. Xiong, K. Tang, G. Feng, L. He.

154/12:00 A single common TSPO SNP alters receptor binding of a PET ligand: Can genotyping identify patients most likely to benefit clinically from PET studies? A. Yeo, D. Owen, R. Gunn, K. Song, G. Wadsworth, A. Lewis, C. Rhodes, D. Pulford, I. Bennacef, C. Parker, P. St. Jean, L. Cardon, V. Mooser, P. Matthews, E. Rabiner, J. Rubio.

Thursday, October 13

10:15 AM–12:15 PM

Concurrent Platform Session B (30-39)

SESSION 39 – Neurogenetics II: Paraplegia, Behavior and Migraine

Room 510, Level 5, Convention Center


Moderators: Alexandra Durr, INSERM, France
  Christian Huebner, Univ. of Jena, Germany


155/10:15 Reticulon mutations in hereditary spastic paraplegia. A. P. Rebelo, G. Montenegro, J. Connell, R. Allison, R. Schüle, T. Deconinck, J. Huang, M. Pericak-Vance, P. Jonghe, L. Schöls, A. Orlacchio, E. Reid, S. Zuchner, C. Babalini, G. Bernardi.

156/10:30 Mutation in C19orf12 causes hereditary spastic paraplegia type 43. G. Landoure, B. G. Burnett, P.-P. Zhu, J. Johnson, D. Hernandez, C. Rinaldi, M. Sangare, E. Rugarli, M. Traore, B. Traynor, C. Blackstone, K. Fischbeck.

157/10:45 Combination of positional cloning and new generation sequencing identifies 3 novel genes of hereditary spastic paraplegia involved in closely related functions. G. Stevanin, C. Tesson, M. Nawara, M. A. M. Salih, M. Zaki, E. Mundwiller, M. Al Balwi, A. Boukhris, A. Bouhouche, E. Martin, A. Al Drees, S. A. Elmalik, M. M. Kabiraj, M. Z. Seidahmed, A. Alswaid, N. Bouslam, L. Orlando, F. Mochel, A. Rastetter, A. Durr, I. Al Abdulkareem, M. T. Al Rifai, F. M. Santorelli, A. Benomar, S. A. Al Rasheed, C. Mhiri, J. Gleeson, F. Darios, A. Brice.

158/11:00 Tremor-ataxia with central hypomyelination, leukodystrophy with oligodontia and 4H syndrome (hypomyelinating leukodystrophy with hypodontia and hypogonadotropic hypogonadism) are allelic disorders caused by mutations in the same gene. G. Bernard, E. Chouery, M. L. Putorti, M. Tétreault, A. Takanohashi, G. Carosso, I. Clément, K. Choquet, S. Fribourg, M. Teichmann, A. Megarbane, R. Schiffmann, A. Vanderver, B. Brais.

159/11:15 IOCDF genome-wide association study of obsessive-compulsive disorder. S. E. Stewart, D. Yu, J. Scharf, E. R. Gamazon, P. Evans, J. A. Knowles, C. Mathews, P. Arnold, G. Hanna, G. Nestadt, M. Wagner, D. Denys, D. Cath, C. Lochner, D. L. Murphy, A. G. Hounie, M. C. Cavallini, H. Nicolini, R. Delorme, D. Stein, J. Samuels, E. Miguel, M. Pato, J. Fagerness, C. Mayerfeld, S. Haddad, B. Neale, S. Purcell, N. Cox, D. L. Pauls, International OCD Foundation Genetics Collaborative.

160/11:30 Exome sequencing of an isolated Chilean population affected by specific language impairment. R. Nudel, P. Villanueva, A. Hoischen, C. Gilissen, L. Carvajal-Carmona, M. Echeverry, L. Jara, Z. De Barbieri, H. M. Palomino, M. A. Fernández, H. Palomino, J. Veltman, A. P. Monaco, S. E. Fisher, D. F. Newbury.

161/11:45 Duplication of GTF2I results in separation anxiety in mice and humans. J. Dida, C. B. Mervis, E. Lam, N. A. Crawford-Zelli, E. J. Young, D. R. Henderson, C. A. Morris, T. Onay, J. Woodruff-Borden, J. Yeomans, L. R. Osborne.

162/12:00 Meta-analysis of genome-wide association data of 20 000 migraine cases identifies two novel gene loci and supports several biologically relevant mechanisms. V. Anttila, A. Aromaa, D. Boomsma, D. Chasman, L. Cherkas, M. Dichgans, C. van Duijn, T. Freilinger, M.-R. Järvelin, M. Kallela, J. Kaprio, C. Kubisch, T. Kurth, L. Launer, L. Ligthart, A. van den Maagdenberg, N. Martin, D. Nyholt, O. Raitakari, M. Schuerks, T. Spector, H. Stefansson, K. Stefansson, D. Strachan, B. de Vries, M. Wessman, B. Winswold, J.-A. Zwart, A. Palotie, International Migraine Genetics Meta-analysis Consortium.

Thursday, October 13

12:30 PM–12:45 PM

SESSION 40 – ASHG Curt Stern Award Presentation

Room 210, Level 2, Convention Center


The Curt Stern Award is given annually by ASHG in recognition of major scientific achievement in human genetics that has occurred in the last 10 years. The work could be a single discovery, or a series of contributions on a similar or related topic. This Award honors the memory of Dr. Curt Stern (1902-1981) as an outstanding pioneer in human genetics who served as ASHG president in 1956.

Aravinda Chakravarti
McKusick-Nathans Inst. of Genetic Med., Johns Hopkins Univ. Sch. of Med., USA

David Altshuler
Broad Inst. of MIT and Harvard, Harvard Med. Sch. and Massachusetts Gen. Hosp., USA

Endocrinologist and human geneticist David Altshuler, MD, PhD, is honored as this year's recipient of the ASHG Curt Stern Award for his outstanding contributions as a leader in the study of human genetic variation and its application to common, complex diseases using tools and knowledge gained from the Human Genome Project. Altshuler is a co-founder and currently serves as Deputy Director and Chief Academic Officer of the Broad Institute and Director of the Institute's Program in Medical and Population Genetics, which has pioneered new models of scientific collaboration. He is also a Professor of Genetics and Medicine at Harvard Medical School, and in the Department of Molecular Biology at the Center for Human Genetic Research, as well as at the Diabetes Unit at Massachusetts General Hospital. Altshuler is currently a member of the ASHG Board of Directors.

Altshuler's work has provided key scientific contributions that have enabled researchers to gain a better understanding of the genetic basis of diseases and helped to identify the gene variants that influence the risk of common conditions, focusing primarily on type 2 diabetes as well as blood cholesterol, myocardial infarction, prostate cancer, systemic lupus erythematosis, and rheumatoid arthritis. His research findings have provided new clues regarding the underlying mechanisms that cause these diseases, and more generally, provided a blueprint for analyzing the role of genetic variations in human health and disease.

David Altshuler has been a lead investigator of several major projects to help create shared research resources - including the SNP Consortium, the International HapMap Project, and the 1,000 Genomes Project. These fundamental resources have aided human geneticists in their efforts to discover disease-causing genes by providing publicly-accessible maps of human genome sequence variation data. Together with his long-term collaborators Mark Daly and Stacey Gabriel, Altshuler has contributed laboratory and analytical methods for applying these insights in disease research.

Furthermore, Dr. Altshuler has also played a key role increasing scientific collaboration in human genetics on an international level. In partnership with Mike Boehnke, Leif Groop and Mark McCarthy, Altshuler established the DIAGRAM Consortium, which has steered genetic research in type 2 diabetes towards a more collaborative, team-based approach coupled with a strong commitment to advancing the careers of junior investigators and making data publicly available to the scientific community.

Overall, Dr. Altshuler's work has had an enormous impact on the human genetics field by laying the foundation for systematic genetic studies of human disease. In doing so, he has been a leader in taking the important step towards effectively integrating the study of genetics, genomics, and medicine. The American Society of Human Genetics would like to recognize Dr. David Altshuler for his significant achievements in advancing human genetics research and collaboration among scientists in the field by honoring him as this year's recipient of the ASHG Curt Stern Award.

For a list of past award winners, visit the ASHG Web site at


Thursday, October 13

12:45 PM–1:15 PM

SESSION 41 – ASHG William Allan Award Presentation

Room 210, Level 2, Convention Center


The William Allan Award is presented annually by ASHG to recognize substantial and far-reaching scientific contributions to human and medical genetics, carried out over a lifetime of scientific inquiry and productivity. A monetary award and an engraved medal will be presented to the award recipient.

Maximilian Muenke

John M. Opitz
Univ. of Utah Sch. of Med., USA

John M. Opitz, MD, became a U.S. citizen in March 1951, six years after his introduction to developmental biology, genetics, endocrinology and to evolution by Emil Witschi in Iowa City. In medical school, Hans Zellweger and Jackie Noonan taught him the art and science of phenotype analysis at a time (1959) of revolutionary advances in medical genetics.

After a fellowship with Drs. Patau and Smith (University of Wisconsin-Madison), Dr. Opitz devoted some decades to the analysis of abnormal human development in genetic, developmental and evolutionary terms. The "simple" example of causal heterogeneity of specific malformations observed in clinic, coupled with lessons learned in Witschi's 1954 vertebrate embryology course, allowed him to rediscover the developmental field concept (first enunciated most clearly by Spemann, Nobel Prize, 1935, on the basis of experiments in amphibians) and, apparently for the first time, to introduce it into human developmental biology. With a passionate interest in evolutionary history and biology, and on the basis of Owen's concept of homology, Dr. Opitz was also able to identify these morphologic units of the embryo ("fields") as the evolutionary units of the species ("modules" in modern terminology).

"Clinical paleontology," on the basis of clinically mutant genes, normally present in all branches of life, has even allowed beginning reconstruction of the last universal common ancestor (LUCA) of animal, plants, fungi, bacteria and archaea. His enthusiasm for developmental biology and medical genetics, and his deep compassion for his patients and their families, has allowed Dr. Opitz the profound satisfaction of recognizing daily the footprints of evolution in clinic and at autopsy, now so easily confirmed molecularly.

Syndromes are not studied by Dr. Opitz solely for the sake of syndromes, name recognition or material gain, but rather to reconcile parents to the perfectly natural nature of their child's condition (Meckel 1822: Die ursprünglichen Bildungsfehler sind nicht wieder die Natur: Primary malformations are not contrary to nature). With a profound commitment to the ethical nature of the practice of medical genetics, Dr. Opitz feels privileged to relearn on a daily basis the lesson of his youth: All living organisms are related, equally deserving of reverent study and gratitude for "revealing" to us the biological nature of their individuality, its development in ontogeny and phylogeny.

As genetic coordinator of the fetal genetic/pediatric pathology program at the University of Utah, Dr. Opitz feels humbly grateful to participate with gifted junior colleagues in exploring and shaping methodologically, this last frontier of human genetics and biology.

For a list of past award winners, visit the ASHG Web site at


Thursday, October 13

1:15 PM–2:00 PM

SESSION 42 – Gruber Genetics Prize Award Presentation

Room 210, Level 2, Convention Center


The Gruber Genetics Prize is awarded annually by The Peter and Patricia Gruber Foundation. The Genetics Prize is presented to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. The recipient will be presented with a gold medal and a $500,000 cash award.

Ronald W. Davis
Stanford Univ. Sch. of Med., USA

The 2011 Gruber Genetics Prize of The Peter and Patricia Gruber Foundation will be presented to biochemist and geneticist Ronald W. Davis, PhD, of Stanford University for his groundbreaking contributions to genetics research. Dr. Davis is being honored as this year's Gruber Genetics Prize recipient for developing biotechnologies that have played an indispensable role in advancing the fields of molecular genetics and genomics.

Dr. Davis will deliver a lecture entitled, "Health Advanced Technology Project (HAT Project)."

Dr. Davis' contributions to the field have been numerous and profound and include a long string of "firsts." Early in his career, Davis developed one of the first mapping methods for DNA, as well as some of the earliest cloning vectors (DNA molecules that carry foreign DNA into a host cell, where the foreign DNA can then be replicated). Later, working on the genome and biology of (baker's yeast), Davis developed the first artificially constructed chromosomes, which are now routinely used to clone large genes and to map complex genomes. He also described the very first case of what is now known as genome editing, the ability to replace any nucleotide in the yeast genome with any other nucleotide.

In 1980, Davis described how sequence variants in the genomes of humans and other species could provide genetic markers for making a genetic and physical map of the human genome, a finding that helped launch the field of genomics. A few years later, his lab showed how DNA libraries could be searched with protein-finding antibodies, a technique that has made it possible for scientists to identify genes for important proteins, including in humans. Furthermore, Davis also contributed to the development of the very first microarrays, tools that enable scientists to analyze the gene expression of thousands of genes simultaneously. He then went on to help standardize this technology, paving the way for other scientists to use it for clinical applications.

Finally, according to Davis' Gruber Prize citation, "Throughout his career—by training students, communicating openly with colleagues, and leading through the example of his own research—Davis has profoundly influenced the way scientists study the molecular basis of life."

The Gruber Genetics Prize has been presented annually since 2001. Laureates are: Rudolf Jaenisch, H. Robert Horvitz, David Botstein, Mary-Claire King, Robert H. Waterston, Elizabeth H. Blackburn, Maynard V. Olson, Allan C. Spradling, Janet Davison Rowley, Gerald Fink.

Nominations for the 2012 Prize are now open and close on December 15, 2011. For further information see


Thursday, October 13

4:15 PM–6:15 PM

SESSION 43 – Plenary Debate Session: Current and Emerging Sequencing Technologies: Changing the Practice of Medical Genetics

Room 210, Level 2, Convention Center


Moderator: Han G. Brunner, Univ. of Nijmegen, Netherlands


Panelists: Michael Hayden, Ctr. for Molecular Medicine and Therapeutics, Canada; Joris A. Veltman, Univ. of Nijmegen, Netherlands; Radoje Drmanac, Complete Genomics, USA; Segolene M. Ayme, INSERM, France; Louanne Hudgins, Stanford Univ., USA; Ming Qi, Zhejiang Univ. Med. School, China.

The following statements will be briefly discussed by the panelists (in favor or against), and then the audience will be invited to join the discussion. Statement 1: Targeted sequencing will remain the norm for diagnostic medical genetics because whole-exome or whole-genome sequencing will yield an excess of information that is useless, uninterpretable, or possibly damaging to the patient. Statement 2: Personal genome sequencing creates an unacceptable risk to the privacy of people. Statement 3: Cytogenetics will cease to be. Sequencing is the only future technology in diagnostic labs. Statement 4: Personal genomes will become incorporated in the standard of care for all of medicine. Therefore, medical genetics will disappear as a separate specialty.


Friday, October 14

8:00 AM–10:00 AM

SESSION 44 – Plenary Debate Session: Owning the Genome: The Patenting and Licensing of Genes and Their Impact on Medical Genetics

Room 210, Level 2, Convention Center


Moderators: James P. Evans, Univ. of North Carolina at Chapel Hill, USA
  Jonathan S. Berg, Univ. of North Carolina at Chapel Hill, USA


Approximately 20% of the human genome is patented but the area of genetic intellectual property is in a state of considerable flux. Recent court decisions create an uncertain environment for the use of many human genes in diagnosis and medical care. While the protection of intellectual property is critical to encourage innovation, there exist significant concerns about the legitimacy of gene patents and their potential for adverse impact on patient care. Does the patenting and licensing of genes help or hinder the development of genetic discoveries and their translation into medical practice? What patenting and licensing models exist that might lead to optimal translation of genetic testing to patient care? How do we avoid patent thickets? Finally, how will the intellectual property landscape affect the use of arrays and whole genome sequencing?


8:00 Introduction. J. S. Berg. Univ. of North Carolina at Chapel Hill, USA.

8:10 An introduction to gene patenting and licensing: Current landscape and looming challenges. J. P. Evans. Univ. of North Carolina at Chapel Hill, USA.

8:30 Gene patenting: An international perspective. G. L. Matthijs. Univ. of Leuven, Belgium.

8:40 Are genes really patentable material? The legal perspective on genes as intellectual property. R. Gold. McGill Univ., Canada.

8:50 Patenting and licensing policy: Avoiding problems, maximizing potential. R. Cook-Deegan. Duke Univ., USA.

9:00 A laboratorian’s view of genetic testing monopolies: Who is the culprit? D. Ledbetter. Geisinger Hlth. Syst., Danville, PA, USA.

9:10 A judge's perspective on gene patenting. R. W. Sweet. Southern District, USA District Court, New York, USA.

9:30 Questions and answers. J. S. Berg. Univ. of North Carolina at Chapel Hill, USA.

Friday, October 14

10:30 AM–12:30 PM

Concurrent Invited Session III (45-50)

SESSION 45 – Functional Noncoding RNAs in Mammalian Systems and Disease

Room 517BC, Level 5, Convention Center


Moderators: Ahmad M. Khalil, Case Western Reserve Univ. Sch. of Med., USA
  Leonard Lipovich, Wayne State Univ. Sch. of Med., USA


Recent advances in RNA sequencing technologies have allowed us to comprehensively examine the RNA populations present in cells of diverse organisms. These studies and previous results demonstrate that a significant proportion of the mammalian genome is transcribed. While only 1-2% of these transcripts have the capacity to code for proteins, the majority of RNA molecules in the endogenous transcriptional output have no protein coding capacity (non-coding RNAs) and are thought to function as RNA molecules. In this session, along with coverage of microRNA and other short-RNA functions, the focus will be on long non-coding (lnc)RNAs, which are mRNA-like but lack open reading frames. lncRNAs range in size from 200 nucleotides to over 10 kb. Many are capped, polyadenylated, spliced and in some cases conserved. Very recently, several studies demonstrated that some lncRNAs are functional, as regulators of chromatin, nuclear organization, and cell identity. Most intriguingly, a growing number of mammalian lncRNAs have been found to function as direct co-regulators of transcription factors. However, aside from these examples and a very few well-characterized systems such as telomerase and X-inactivation, lncRNA function remains poorly understood. We have selected key experts in the field of non-coding RNAs (ncRNAs) who have pioneered the functional analysis of short and long ncRNAs and have already derived substantial insights into their biological roles. These investigators are advancing genome-scale research on the function of these still-mysterious RNA molecules. Each speaker will discuss first-hand latest research on ncRNA functions and mechanisms. The complementary research areas of the speakers include neuronal lncRNAs, ncRNA regulation in development and disease, and studies of lncRNA functions.


10:30 AM   Introduction. A. M. Khalil. Case Western Reserve Univ. Sch. of Med., USA.

10:40 AM   Nuclear-retained noncoding RNAs. D. L. Spector. Cold Spring Harbor Lab., NY, USA.

11:05 AM   Antisense noncoding RNAs in human neurological disorders. C. Wahlestedt. The Scripps Res. Inst., Jupiter, FL, USA.

11:30 AM   Endogenous siRNAs and noncoding RNA-derived small RNAs are expressed in adult mouse hippocampus and are upregulated in olfactory discrimination training. N. R. Smalheiser. Univ. of Illinois at Chicago, USA.

11:55 AM   Modulating gene expression by targeting noncoding RNAs. D. Corey. Univ. of Texas Southwestern Med. Ctr. at Dallas, USA.

12:20 PM   Summary. L. Lipovich. Wayne State Univ. Sch. of Med., USA.

Friday, October 14

10:30 AM–12:30 PM

Concurrent Invited Session III (45-50)

SESSION 46 – Mechanisms of Embryonic Development and Organogenesis: Insights into Human Birth Defects

Room 517A, Level 5, Convention Center


Moderator: Anthony Wynshaw-Boris, Univ. of California, San Francisco Sch. of Med., USA


The purpose of the session is to present contemporary state-of-the-art ideas about developmental biology mechanisms and pathways, relevant to human genetic disease and birth defects. Four internationally recognized speakers will give a broad overview of the current thinking and research in this area. They will speak about developmental mechanisms in model organisms, but also will relate their findings to human genetic disease and birth defects as this will be most relevant to the audience.


10:30 AM   Introduction. A. Wynshaw-Boris. UCSF Sch. of Med., USA.

10:40 AM   Left-right asymmetry and its inborn errors. H. Hamada. Grad. Sch. of Frontier Biosci, Osaka Univ., Japan.

11:05 AM   Primary cilia and Hedgehog signaling. K. Anderson. Sloan Kettering Inst., New York, USA.

11:30 AM   Formation of the vertebral column: From clocks to scoliosis. O. Pourquie. IGBMC, Strasbourg, France.

11:55 PM   X-linked lethal mutations: Mouse models of human congenital syndromes. J. Rossant. Hosp. for Sick Children Res. Inst., Toronto, Canada.

12:20 PM   Queston and answers. A. Wynshaw-Boris. UCSF Sch. of Med., USA.

Friday, October 14

10:30 AM–12:30 PM

Concurrent Invited Session III (45-50)

SESSION 47 – One and the Same? Twins, Epigenetics and the Elucidation of Complex Genetic Traits and Diseases

Room 517D, Level 5, Convention Center


Moderator: Eric Vilain, Univ. of California, Los Angeles, USA


The debate of Nature versus Nurture has traditionally been an intellectual battle between social constructionists and biological determinists. Classic twin studies have helped identify the respective influence of genetics and environment for many traits and diseases. But the difficulty to measure the specific nature of environmental influence, combined with the particularly arduous task of identifying specific DNA variations associated with common traits and disorders, has challenged the efficiency of genome-wide associations studies of complex diseases. Genetic and epigenetic twins studies, however, have recently profoundly shifted the paradigm of heritable and environmental effects, by providing a unified measure for both. Epigenetic modifications provide a measurable marker of environmental influence, are partially dependent on the genetic background, and can be transmitted to the next generation. Deciphering epigenetic changes on a large scale in twins discordant for a variety of traits, and in the general population, is about to revolutionize our approach of the etiology of common diseases, and our understanding of the molecular basis of heritable and non-heritable factors. This internationally diverse session will be dedicated to the memory of Dr. Leena Peltonen, world leading human geneticist, who early on understood the power of modern genetic and epigenetic studies of twins.


10:30 AM   Introduction. E. Vilain. UCLA, USA.

10:35 AM   Contributions of twin studies towards elucidating disease etiology. N. Martin. Univ. of Queensland, Australia.

11:05 AM   Large scale methylation in discordant twins. T. Spector. King's Col. London, U.K.

11:35 AM   Epigenetic differences in twins: Clues for complex disorders. A. Petronis. Univ. of Toronto, Canada.

12:05 PM   Twins, sexual orientation and age. E. Vilain. UCLA, USA.

Friday, October 14

10:30 AM–12:30 PM

Concurrent Invited Session III (45-50)

SESSION 48 – Individual Resequencing for Complex Trait Genetics

Room 210, Level 2, Convention Center


Moderators: Benjamin M. Neale, Massachusetts Gen. Hosp., USA
  Mark J. Daly, Broad Inst., Cambridge, MA, USA


We propose a session on the analysis of individual level sequencing data for a range of complex traits. Our proposal encompasses novel analytic methods, insights into the logistical and quality control challenges from a variety of disease-motivated sequencing projects and emerging themes of the genetic architecture of common complex traits. Specifically, we will present data from regional, whole exome, and whole genome studies on metabolic, immunological, and psychiatric phenotypes. We anticipate that this session will not only provide an extensive description of how best to process next-generation sequence data, but also will explain the state of the art in analytic tools and methods for next-generation sequencing. These projects will enable the most comprehensive perspective on the role of the full range of variation types, including SNPs, small insertion and deletion events, and copy number variation. Furthermore, we will provide the most up to date perspective on how large an influence rare variation (i.e. <1% in the general population) has on these complex phenotypes.


10:30 AM   Introduction. B. M. Neale. Massachusetts Gen. Hosp., USA.

10:35 AM   Next-generation sequencing in seven common diseases. P. Donnelly. Wellcome Trust Ctr. for Human Genet., Oxford, U.K.

10:58 AM   Large-scale sequencing of schizophrenia and bipolar disorder. S. M. Purcell. Massachusetts Gen. Hosp., USA.

11:21 AM   Next-generation sequencing to resolve complex genetic architectures. J. Barrett. Wellcome Trust Sanger Inst., Hinxton, U.K.

11:44 AM   Next-generation sequencing of multiple sclerosis. C. Cotsapas. Yale Univ., USA.

12:07 PM   Sequencing analysis of quantitative traits. G. Abecasis. Univ. of Michigan, USA.

Friday, October 14

10:30 AM–12:30 PM

Concurrent Invited Session III (45-50)

SESSION 49 – International Policies Regarding the Retention and Use of Residual Dried Blood Spot Specimens after Newborn Screening

Room 520, Level 5, Convention Center


Moderator: Michele Lloyd-Puryear, HHS, Rockville, MD, USA


Since the newborn screening community first published guidance regarding the retention, storage and use of residual dried blood spots in 1996, noticeable improvements in policy development have occurred. In the United States of America’s State newborn screening programs, there are currently two distinct practices regarding the storage and use of residual newborn screening specimens: 1) short-term storage (<3 years), primarily for program quality assurance and test improvement; and 2) long-term storage (> 18 years), which allows for the above program needs and additionally for public health research. This session will report on the recommendations from the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children as well as provide international perspectives on the use and storage of newborn screening residual blood specimens and policies to protect families and govern the activities for these specimens.


10:30 AM   Introduction. M. Lloyd-Puryear. HHS, Rockville, MD, USA.

10:35 AM   Recommendations from the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. R. R. Howell. Univ. of Miami, USA.

10:55 AM   Treasure trove or baby DNA database? S. Terry. Genetic Alliance, Washington, DC, USA.

11:15 AM   Australian national policy for the use and storage of biologic samples. J. M. Fletcher. SA Neonatal Screening Ctr., North Adelaide, Australia.

11:35 AM   Policy for the storage and use of residual dried blood spot specimens after newborn screening: The view from Canada. F. A. Miller. Univ. of Toronto, Canada.

11:55 AM   Secondary uses of dried blood spots collected for newborn screening: Public benefits and public understanding. C. Dezateux. University Col. London, U.K.

12:15 PM   Questions and answers. M. Lloyd-Puryear. HHS, Rockville, MD USA.

Friday, October 14

10:30 AM–12:30 PM

Concurrent Invited Session III (45-50)

SESSION 50 – Exploring International Approaches to the Evaluation of Genetics Education

Room 511, Level 5, Convention Center


Moderators: Kate Reed, NCHPEG, Lutherville, MD, USA
  Victor B. Penchaszadeh, Ctr. for Genet. and Publ. Hlth., Buenos Aires, Argentina


A recent focus on genetics education in medicine and public health has resulted in a large number of educational programs for a variety of audiences. A challenge that has not been addressed with as much enthusiasm is the evaluation of the effectiveness of these programs. Physicians, scientists, politicians, public health workers, and consumers are calling for accurate and accessible information about the impact of genetic and genomic discoveries on society and the individual worldwide. In addition, funders have increased attention on evaluation. There is, therefore, a significant need for robust and sustainable educational resources that improve knowledge and influence behavior. An understanding of the most effective ways to educate different health professional audiences and determine appropriate outcomes and measures is essential to facilitating the implementation of genetics into clinical settings worldwide. This program will convene experts in the evaluation of genetics education for health professionals. The speakers will describe their educational programs and will explore different approaches to evaluation of content, pedagogy, delivery mechanisms, and clinical outcomes as they apply to diverse groups of clinicians, including practitioners and pre-clinical trainees (e.g., medical students, nursing students), in Africa, Australia, the Middle East, South America, the United Kingdom, and the United States.


10:30 AM   Introduction. K. Reed. NCHPEG, Lutherville, MD, , USA.

10:35 AM   Educating a country: Genetics education for health professionals in the United Kingdom. P. Farndon. Natl. Genet. Educ. and Develop. Ctr., Edgbaston, Birmingham, U.K.

10:55 AM   Evaluating genetic education in Latin America. V. B. Penchaszadeh. Ctr. for Genet. and Publ. Hlth., Buenos Aires, Argentina.

11:15 AM   Genetics education and program evaluation in Australia. S. Metcalfe. Univ. of Melbourne, Australia.

11:35 AM   Developing and evaluating genetics education in developing countries. H. Hamamy. Geneva Univ. Hosp., Vernier, Switzerland.

11:55 AM   Development of a novel evaluation approach for genetics education in the United States. E. Edelman. NCHPEG, Lutherville, MD, USA.

12:15 PM   Questions and answers. V. B. Penchaszadeh. Ctr. for Genet. and Publ. Hlth., Buenos Aires, Argentina.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 51 – Cancer Genetics II: Ovarian and Breast

Room 210, Level 2, Convention Center


Moderators: Hidewaki Nagakawa, Ctr. for Genomic Med., Japan
  William Foulkes, McGill Univ. Hlth. Ctr., Canada


163/4:15 Functional polymorphisms in the TERT promoter are associated with risk of epithelial ovarian cancer. G. Chenevix-Trench, J. Beesley, H. Pickett, S. Johnatty, X. Chen, D. Rider, M. Stutz, D. Lambrechts, J. Chang-Claude, T. Dork, M. T. Goodman, B. Kiemney, E. Bandera, L. S. Cook, N. Le, I. Campbell, S. Gayther, S. Ramus, S. Macgregor, E. Goode, R. Reddel on behalf of the Ovarian Cancer Association Consortium.

164/4:30 Massively parallel sequencing identifies inherited mutations in 12 genes in women with ovarian, peritoneal, and fallopian tube carcinomas. T. Walsh, S. Casadei, M. Lee, C. Pennil, A. Nord, A. Thornton, W. Roeb, M.-C. King, E. Swisher.

165/4:45 Ovarian cancer susceptibility loci and risk of ovarian cancer in BRCA1 and BRCA2 carriers. S. J. Ramus, A. C. Antoniou, K. Kuchenbaecker, P. Soucy, L. McGuffog, S. Healey, O. M. Sinilnikova, P. Radice, D. E. Goldgar, S. Peock, R. K. Schmutzler, D. Stoppa-Lyonnet, M. A. Rookus, A. Jakubowska, kConFab. Investigators, J. Simard, D. F. Easton, F. Couch, G. Chenevix-Trench on behalf of Consortium of Investigators of Modifiers of BRCA1/2.

166/5:00 Evaluation of transcripts generated by germline mutations identified by massively parallel genomic sequencing in ovarian cancer patients. S. Casadei, T. Walsh, M. Lee, A. Nord, S. Stray, A. Thornton, C. Pennil, A. Wickramanayake, B. Norquist, M. C. King, E. Swisher.

167/5:15 Discovery of new genes for inherited breast cancer by exome sequencing of unresolved high-risk families. C. Spurrell, M. Lee, A. Nord, S. Casadei, A. Thornton, J. Mandell, T. Walsh, M.-C. King.

168/5:30 Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2. A. C. Antoniou, A. M. Mulligan, F. J. Couch, D. Barrowdale, S. M. Domchek, D. Eccles, H. Nevanlinna, S. J. Ramus, M. Robson, M. Sherman, A. B. Spurdle, B. Wappenschmidt, L. McGuffog, J. Simard, G. Chenevix-Trench, D. F. Easton, I. L. Andrulis on behalf of Consortium of Investigators of Modifiers of BRCA1/2.

169/5:45 Common variation at the C19orf62 and ZNF365 loci is associated with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. F. J. Couch, M. M. Gaudet, A. C. Antoniou, S. J. Ramus, K. Kuchenbaecker, P. Soucy, J. Beesley, X. Wang, T. Kirchhoff, L. McGuffog, D. Barrowdale, O. M. Sinilnikova, D. Goldgar, S. L. Neuhausen, A. Borg, A. M. Gerdes, T. V. O. Hansen, A. Osorio, I. L. Andrulis, M. Greene, S. M. Domchek, P. Radice, D. F. Easton, G. Chenevix-Trench, K. Offit, J. Simard, CIMBA.

170/6:00 Admixture mapping identifies regions on 6q25 and 11p15 associated with breast cancer in U.S. Latinas. L. Fejerman, G. Chen, S. Huntsman, D. Hu, A. Williams, B. Pasaniuc, E. M. John, M. Via, C. Gignoux, S. Ingles, B. E. Henderson, L. Le Merchand, L. N. Kolonel, G. Torres-Mejia, E. Perez-Stable, E. Gonzalez Burchard, C. Eng, C. Haiman, E. Ziv.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 52 – Genomics III: Genome Expression

Room 517BC, Level 5, Convention Center


Moderators: Tomi Pastinen, McGill Univ., Canada
  Mark Corbett, SA Pathology, North Adelaide, Australia


171/4:15 Reference transcriptomes for 14 nonhuman primates reveals cross-species and species-specific isoforms and novel, active RNAs. C. E. Mason, A. Akalin, G. Schroth, M. Katze, Nonhuman Primate Reference Transcriptome Consortium.

172/4:30 Massively parallel saturation mutagenesis and functional analysis of mammalian enhancers. R. Patwardhan, J. B. Hiatt, M. J. Kim, D. May, R. P. Smith, J. Wagner, N. Ahituv, L. Pennacchio, J. Shendure.

173/4:45 The role of genetic variation underlying transcription factor mRNA and protein levels. R. J. Hause, A. L. Stark, N. N. Antao, L. Gorsic, D. F. Gill, S. H. Chung, C. D. Brown, K. P. White, M. E. Dolan, R. B. Jones.

174/5:00 Rare and common tissue-specific genetic effects on transcriptome abundance and structure using next-generation sequencing. S. B. Montgomery, M. Gutierrez-Arcelus, T. Lappalainen, H. Ongen, A. Buil, A. Nica, I. Padioleau, M. Guipponi, P. Makrythanasis, A. Yurosvsky, T. Giger, L. Romano, C. Gehrig, E. Falconnet, S. E. Antonarakis, E. T. Dermitzakis.

175/5:15 The genetic basis of inter-individual variation in mRNA decay rates. A. A. Pai, J. F. Degner, S. De Leon, N. Lewellen, J. K. Pickrell, J. K. Pritchard, Y. Gilad.

176/5:30 Human cis-regulatory SNPs altering transcription factor binding and gene expression. V. Adoue, T. Kwan, B. Ge, M. Ouimet, V. Gagne, K. Gunderson, D. Sinnett, T. Pastinen.

177/5:45 Genetic variation of gene co-expression networks in three tissues. A. Buil, A. K. Hedman, K. Small, E. Grundberg, A. C. Nica, T. D. Spector, M. I. McCarthy, P. Deloukas, E. T. Dermitzakis, MuTHER Consortium.

178/6:00 Whole omics profiling reveals medical and complex molecular phenotypes. M. Snyder, R. Chen, H. Lam, J. Li-Pook-Than, G. Mias, L. Jiang, K. Karczewski, F. Dewey, M. Hariharan, S. Hillenmeyer, R. Haraksingh, M. O'Huallachain, L. Habbeger, R. Chen, M. J. Clark, J. Dudley, S. Balasubramanian, T. Kein, R. Altman, A. Butte, E. Ashley, M. Gerstein, H. Tang.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 53 – Molecular Basis III: Ciliopathies

Room 517D, Level 5, Convention Center


Moderators: Tania Attie-Bitach, Hosp. Necker-Enfants Malades, Paris, France
  Nicholas Katsanis, Duke Univ., USA


179/4:15 Hippocampal dysgenesis occurs frequently in Bardet-Bield patients independently from the BBS genotype. H. Dollfus, V. Bennouna-Greene, S. Kremer, A. Danion, V. Marion, J.-L. Dietemann, C. Stoetzel.

180/4:30 Exome capture reveals mutations in CEP164 causing a retinal-renal ciliopathy with a possible role in DNA damage response signaling. M. Chaki, R. Airik, A. K. Ghosh, E. A. Otto, W. Zhou, T. W. Hurd, C. Antignac, S. Saunier, R. K. Koenekoop, R. Chen, F. Hildebrandt.

181/4:45 Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. A. den Hollander, A. M. Siemiatkowska, D. Yücel, C. A. Myers, R. W. J. Collin, M. N. Zonneveld, A. Beryozkin, E. Banin, C. B. Hoyng, L. I. van den Born, R. Bose, W. Shen, D. Sharon, F. P. M. Cremers, B. J. Klevering, R. Köksal Özgül, J. C. Corbo, the European Retinal Disease Consortium.

182/5:00 Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene MAK as a cause of retinitis pigmentosa. B. A. Tucker, T. E. Scheetz, R. F. Mullins, A. P. DeLuca, J. M. Hoffmann, R. M. Johnston, S. G. Jacobson, V. C. Sheffield, E. M. Stone.

183/5:15 The mutational load of the intraflagellar transport complex in ciliopathies. E. E. Davis, D. S. Parker, J. R. Willer, C. Golzio, I.-C. Tsai, J. Hartley, K. Szymanska, A. C. Young, P. Cruz, P. Cherukuri, B. Maskeri, N. F. Hansen, J. C. Mullikin, R. W. Blakesley, G. G. Bouffard, D. M. Muzny, D. A. Wheeler, R. A. Lewis, C. Bergmann, E. A. Otto, S. Saunier, P. J. Scambler, P. L. Beales, E. R. Maher, T. Attié-Bitach, C. A. Johnson, F. Hildebrandt, R. A. Gibbs, E. D. Green, N. Katsanis.

184/5:30 Genetic interactions revealed by mouse models of CEP290 ciliopathies. A. Swaroop, R. Rachel, A. Hackett, H. May-Simera, L. Dong, T. Friedman, M. Kelley.

185/5:45 The centrosomal protein ninl functions in ciliogenesis and acts upstream of mkks/bbs6 in establishing planar cell polarity in zebrafish development. H. Kremer, E. van Wijk, N. A. Zaghloul, R. Bachmann, F. F. J. Kersten, J. M. Gerdes, D. A. Mans, T. A. Peters, H. H. Arts, E. Davis, C. C. Leitch, H. May-Simera, P. L. Beales, D. Doherty, C. B. Moens, N. Katsanis, R. Roepman.

186/6:00 Identification of the genetic basis of heterotaxy-spectrum congenital heart defects. J. Cowan, M. Tariq, A. Cast, J. Lander, J. A. Towbin, B. Mohapatra, J. W. Belmont, C. Shaw, T. Smolarek, S. Lalani, S. M. Ware.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 54 – Statistical Genetics III: Analysis of Sequence Data

Room 517A, Level 5, Convention Center


Moderators: Marie-Pierre Dube, Univ. of Montreal, Canada
  Goncalo Abecasis, Univ. of Michigan, USA


187/4:15 Quantitative trait analysis in the NHLBI exome sequencing project. D. Y. Lin, D. Zeng, L. Lange, P. Auer, C. Carlson, R. Jackson, K. North on behalf of NHLBI Exome Sequencing Project.

188/4:30 Whole genome sequencing of 1000 individuals in an isolated population. C. Sidore, S. Sanna, F. Busonero, W. Chen, H. M. Kang, C. Fuchsberger, F. Reinier, R. Berutti, D. Hovelson, M. F. Urru, M. Marcelli, R. Cusano, M. Oppo, A. Maschio, M. Pitzalis, M. Zoledziewska, A. Angius, R. Nagaraja, M. Uda, D. Schlessinger, C. Jones, F. Cucca, G. Abecasis.

189/4:45 Likelihood-based deletion analysis in a sample of sequenced Sardinian individuals. S. Rashkin, T. Blackwell, C. Sidore, S. Sanna, F. Busonero, W. Chen, H. M. Kang, C. Fuchsberger, F. Reinier, R. Berutti, F. Deidda, M. F. Urru, M. Marcelli, R. Cusano, M. Oppo, A. Maschio, M. Pitzalis, M. Zoledziewska, A. Angius, R. Nagaraja, M. Uda, D. Schlessinger, C. Jones, F. Cucca, G. Abecasis.

190/5:00 Sequencing and genotyping thousands of European genomes and exomes to better understand the genetic architecture of type 2 diabetes: The GoT2D Study. H. M. Kang, K. Gaulton, B. F. Voight, C. Fuchsberger, R. D. Pearson, J. Maguire, T. Teslovich, Y. Chen, J. Flannick, L. J. Scott, L. Moutsianas, R. Poplin, P. Chines, J. Perry, C. Sidore, M. Rivas, T. Blackwell, I. Prokopenko, T. Fennell, G. Jun, T. Frayling, N. Burtt, G. R. Abecasis, P. Donnelly, L. Groop, M. Boehnke, M. McCarthy, D. Altshuler on behalf of Genetics of Type-2 Diabetes Consortium.

191/5:15 A longevity reference genome generated from the world’s oldest woman. H. Holstege, D. Sie, T. Harkins, C. Lee, T. Ross, S. McLaughlin, M. Shah, B. Ylstra, G. Meijer, H. Meijers-Heijboer, P. Heutink, S. Shaw Murray, M. Reinders, G. Holstege, E. Sistermans, S. Levy.

192/5:30 Joint variant calling and analysis across >4,000 exomes of European and African American ancestry. G. Jun, H. M. Kang, M. Rieder, M. DePristo, G. Abecasis on behalf of NHLBI Exome Sequencing Project.

193/5:45 SNVer: A statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data. Z. Wei, W. Wang, P. Hu, G. L. Lyon, H. Hakonarson.

194/6:00 Improvement of haplotype phasing using next-generation sequence data. F. Zakharia, J. Kidd, S. Gravel, C. D. Bustamante.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 55 – Epigenetics

Room 520, Level 5, Convention Center


Moderators: Janine LaSalle, Univ. of California, Davis, USA
  Peng Jin, Emory Univ. Sch. of Med., USA


195/4:15 The Roadmap Epigenomic Mapping Consortium: A community human epigenomics resource. L. Chadwick, NIH Roadmap Epigenomic Mapping Consortium.

196/4:30 Dissecting the role of NLRP7 in regulation of imprinting in the trophoblast. S. Wen, S. Mahadevan, S. Otta, A. Balasa, H. Peng, I. Van den Veyver.

197/4:45 Aberrant methylation by mutations of DNA methyltransferase 1 cause peripheral and central axonal degeneration. C. Klein, M. Botuyan, Y. Wu, C. Ward, G. Nicholson, S. Hammans, K. Hojo, H. Yamanishi, A. Karpf, S. James, D. Wallace, M. Simon, C. Lander, J. Cunningham, G. Smith, W. Litchy, B. Boes, E. Atkinson, S. Middha, P. Dyck, J. Parisi, G. Mer, D. Smith, J. Dyck.

198/5:00 Factors playing a role in epigenetic mutations in Beckwith Wiedemann syndrome. V. Dagar, J. Mann, D. Amor, E. Algar.

199/5:15 5-Hydroxymethylcytosine-mediated epigenetic dynamics during neurodevelopment and aging. K. Szulwach, X. Li, Y. Li, C. X. Song, H. Wu, Q. Dai, H. Irier, M. Gearing, A. I. Levey, A. Vasanthakumar, L. A. Godley, Q. Chang, C. He, P. Jin.

200/5:30 Methylomic profiling across brain and blood: Brain area-specific differentially methylated regions, individual differences, and allele-specific DNA methylation. J. Mill, M. Davies, M. Volta, R. Dobson, E. Meaburn, L. Schalkwyk.

201/5:45 Stochastic choice of allelic expression in neural progenitor cells. A. R. Jeffries, L. Perfect, J. Mill, N. J. Bray, J. Ledderose, J. Price.

202/6:00 Age effects on DNA methylation patterns in humans. S. Horvath, Y. Zhang, K. R. van Eijk, E. Strengman, R. S. Kahn, M. P. M. Boks, R. A. Ophoff.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 56 – Complex Traits I: Approaches and Methods

Room 511, Level 5, Convention Center


Moderators: Melanie Carless, Texas Biomed. Res. Inst., USA
  Dale Nyholt, QIMR, Herston, Australia


203/4:15 Analysis of noncoding RNA expression in late-onset Alzheimer’s disease. C. E. Humphries, M. A. Kohli, P. L. Whitehead, D. C. Mash, M. A. Pericak-Vance, J. R. Gilbert.

204/4:30 Components of heritability in an Icelandic cohort. N. Zaitlen, A. Helgason, N. Patterson, B. Pasaniuc, D. Gudbjartsson, P. Kraft, A. Kong, A. L. Price, K. Stefansson.

205/4:45 Gene-phenotype relationships in a deep-resequencing study of 202 genes in >14,000 subjects including 12 complex diseases. M. G. Ehm, M. R. Nelson, L. Warren, L. Li, P. L. St. Jean, J. Shen, D. Fraser, J. L. Aponte, J. Rubio, S. Zöllner, L. R. Cardon, J. Novembre, J. C. Whittaker, S. L. Chissoe, V. E. Mooser.

206/5:00 Multivariate genetic analysis of phenotypic sets identifies 10 novel loci for systemic metabolism. M. Inouye, P. I. W. de Bakker, J. Kettunen, A. J. Kangas, P. Soininen, M. J. Savolainen, J. Viikari, M. Kahonen, T. Lehtimaki, S. Ripatti, O. Raitakari, M. R. Jarvelin, A. Palotie, M. Ala-Korpela.

207/5:15 Multi-ethnic fine-mapping reveals rare and potential causal variants for a complex disease. R. C. Almeida, G. Trynka, J. Gutierrez-Achury, J. Romanos, J. R. Bilbao, D. Barisani, L. Greco, M. C. Mazilli, A. Sood, B. Cukrowska, K. Hunt, E. Urcelay, D. van Heel, C. Wijmenga, Wellcome Trust Case Control Consortium.

208/5:30 Custom array genotyping identifies new loci for type-2 diabetes, providing insight into the biological and genetic architecture of disease. B. F. Voight, A. P. Morris, T. M. Teslovich, T. Ferreira, E. J. Rossin, R. J. Strawbridge, A. V. Segrè, A. Mahajan, I. Prokopenko, H. Grallert, M. Boehnke, M. I. McCarthy on behalf of DIAGRAM Consortium.

209/5:45 Search for novel susceptibility loci for type 2 diabetes using genome-wide association studies imputed from a 1000 Genomes reference panel. I. Prokopenko, H. Chen, C. Ma, R. Mägi, B. F. Voight, Q. Lu, N. Van Zuydam, H. Grallert, L. Yengo, C. Dina, G. Thorleifsson, C. Fuchsberger, L. Liang, M. Mueller, S. M. Willems, K. J. Gaulton, V. Steinthorsdottir, C. M. Van Duijn, M. Boehnke, J. Dupuis, M. I. McCarthy, L. J. Scott on behalf of DIAGRAM+ Consortium.

210/6:00 Exome sequencing to identify genes harboring rare variants that determine lung function decline in COPD. R. A. Mathias, Y. Kim, M. Taub, L. Huang, N. Rafaels, T. Murray, C. Vergara, M. Bamshad, M. Emond, T. H. Beaty, I. Ruczinski, N. Hansel, K. C. Barnes on behalf of NHLBI Exome Sequencing Program and Lung Project Team.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 57 – Cardiovascular Genetics II: Single Gene and Chromosomal Conditions

Room 516, Level 5, Convention Center


Moderators: Joanne Dixon, Wellington Hosp., New Zealand
  John Belmont, Baylor Col of Med., USA


211/4:15 Two new genes for dominant and recessive pseudohypoaldosteronism type II provide novel insights into regulation of serum potassium, pH, and blood pressure. L. M. Boyden, K. A. Choate, M. Choi, C. J. Nelson-Williams, A. Farhi, R. P. Lifton.

212/4:30 Identification of a susceptibility gene for Moyamoya disease, RNF213 by a genome-wide association study. S. Kure, F. Kamada, Y. Aoki, Y. Abe, S. Komatsuzaki, A. Kikuchi, J. Kanno, T. Niihori, M. Fujimura, Y. Mashimo, M. Ono, N. Ishii, Y. Owada, Y. Suzuki, A. Hata, T. Tominaga, Y. Matsubara.

213/4:45 FBN1 susceptibility loci associated with thoracic aortic aneurysm and aortic dissection disease spectrum. M. N. McDonald, S. A. Lemaire, D. Guo, L. Russell, C. C. Miller, III, R. J. Johnson, M. R. Bekheirnia, L. M. Franco, M. Nguyen, R. E. Pyeritz, J. E. Bavaria, R. Devereux, C. Maslen, K. W. Holmes, K. Eagle, S. C. Body, C. Seidman, J. G. Seidman, E. M. Isselbacher, M. S. Bray, J. S. Coselli, A. L. Estrera, H. J. Safi, J. W. Belmont, S. M. Leal, D. M. Milewicz.

214/5:00 A major modifier locus for vascular disease in Marfan syndrome. A. Doyle, K. Kent, H. Dietz.

215/5:15 Exome sequencing identifies SMAD3 mutations causing familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. E. S. Regalado, L. Gong, C. Villamizar, D. C. Guo, N. Avidan, D. Gilchrist, B. McGillivray, L. Clarke, F. Bernier, R. L. Santos-Cortez, S. M. Leal, A. M. Bertoli-Avella, J. Shendure, M. J. Rieder, D. A. Nickerson, D. M. Milewicz, NHLBI GO Exome Sequencing Project.

216/5:30 Bone morphogenic protein receptor 2 alternative splicing has a role in the reduced penetrance seen in autosomal dominant heritable pulmonary arterial hypertension. R. Hamid, L. Hedges, B. Womack, J. Phillips, J. Cogan.

217/5:45 Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure: Evidence for pathomechanism of a complex disease locus. E. I. Gaál, P. Salo, M. Niemelä, K. Kristiansson, M. Günel, M. S. Nieminen, J. Sinisalo, M.-L. Lokki, A. Jula, O. Raitakari, T. Lehtimäki, J. Eriksson, E. Widen, M. Kurki, M. Fraunberg, K. Rehnström, J. E. Jääskeläinen, J. Hernesniemi, A. Palotie, V. Salomaa, M. Perola, ICBP GWAS.

218/6:00 The 22q11.2 deletion syndrome: Second hit copy number variants and conotruncal heart defects. M. B. Sheridan, T. Guo, D. McDonald-McGinn, M. Bowser, M. Xie, X. Gai, J. C. Perin, A. Bassett, E. Chow, A. Blonska, A. Shanske, F. Beemer, K. Devriendt, M. C. Digilio, B. Marino, B. Dallapiccola, A.-M. Higgins, N. Philip, T. J. Simon, K. Coleman, W. Kates, M. Devoto, E. Zackai, J. Ott, D. Heine-Suñer, T. Shaikh, R. Shprintzen, B. Morrow, B. E. Emanuel, International Chromosome 22q11.2 Consortium.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 58 – Neurogenetics III: Alzheimer, Parkinson and Neurodegenerative Diseases

Room 710A, Level 7, Convention Center


Moderators: Gert-Jan van Ommen, Leiden Univ. Med. Ctr., Netherlands
  Harry Orr, Univ. of Minnesota, USA


219/4:15 A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. B. Traynor. National Institute on Aging, Bethesda, MD, U.S.A.

220/4:30 Resequencing of the complement gene pathway to identify rare variants that affect risk of Alzheimer’s disease. M. K. Lupton, S. Newhouse, M. Weale, S. Lovestone, J. F. Powell.

221/4:45 Identification of rare variants for late-onset Alzheimer disease in a family-based genome-wide association study. G. Jun, J. Buros, K. L. Lunetta, T. M. Foroud, R. Mayeux, L. A. Farrer.

222/5:00 Alzheimer's risk variants in the CLU gene modify the use of alternative transcription start sites. M. Szymanski, R. Wang, S. Bassett, D. Avramopoulos.

223/5:15 Investigating Alzheimer’s disease using knock-in mouse models. Q. Guo, N. Justice, H. Zheng.

224/5:30 Genome-wide association of progressive supranuclear palsy (PSP) and the role of MAPT locus in PSP and Parkinson's disease. N. Melhem, G. Hoglinger, D. Dickson, P. Sleiman, A. Singleton, B. Devlin, U. Muller, G. Schellenberg, PSP Genetics Study Group, International Parkinson Disease Genomics Consortium.

225/5:45 A common variant in myosin-18B contributes to mathematical performance in children with dyslexia and intraparietal sulcus variability in adults. K. U. Ludwig, P. Sämann, M. Alexander, J. Becker, J. Bruder, K. Moll, S. Streiftau, D. Spieler, M. Czisch, S. J. Docherty, O. S. P. Davis, R. Plomin, M. M. Nöthen, K. Landerl, B. Müller-Myhsok, P. Hoffmann, J. Schumacher, G. Schulte-Körne, D. Czamara.

226/6:00 Genome-wide consequences of compromised RNA surveillance and its relevance for normal brain function. L. S. Nguyen, L. Jolly, C. Shoubridge, W. K. Chan, L. Huang, F. Laumonnier, M. Raynaud, A. Hackett, M. Filed, J. Rodriguez, A. K. Srivastava, Y. Lee, A. M. Addington, J. L. Rapoport, S. Suren, C. Hahn, J. Gamble, M. F. Wilkinson, M. A. Corbett, J. Gecz.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 59 – Clinical Genetics II: Neurodevelopmental Disorders

Room 710B, Level 7, Convention Center


Moderators: Kym Boycott, Children's Hosp. of Ontario, Canada
  Jill Clayton-Smith, Univ. of Manchester, U.K.


227/4:15 New findings in phenotype-genotype correlations in holoprosencephaly: About a large European series of 645 probands. S. Odent, C. Dubourg, L. Pasquier, C. Bendavid, P. Loget, N. Garcelon, B. Campillon-Gimenez, S. Jaillard, C. Quelin, L. Rochard, V. Dupe, V. David, S. Mercier.

228/4:30 Rhombencephalosynapsis: An under-recognized disorder associated with aqueductal stenosis and a wide spectrum of severity. D. Doherty, G. E. Ishak, K. J. Millen, D. W. Shaw, W. B. Dobyns.

229/4:45 Phenotypes and genetics of polymicrogyria: Copy number variations and evidence for a novel locus for bilateral perisylvian polymicrogyria narrowed to 2p16.1-p16.3. D. Amrom, A. Poduri, B. Dan, N. Deconinck, C. Christophe, B. Pichon, F. Dubeau, D. Tampieri, G. Kuchukhidze, W. Dobyns, C. Walsh, F. Andermann, E. Andermann.

230/5:00 Posterior fossa anomalies diagnosed with fetal MRI: Associated anomalies and neurodevelopmental outcomes. K. J. Patek, B. M. Kline-Fath, V. V. Pilipenko, C. G. Spaeth, T. M. Crombleholme, R. J. Hopkin.

231/5:15 Distal arthrogryposis type 5D: A new autosomal recessive syndrome. M. J. McMillin, A. E. Beck, J. Pinner, S. G. Mehta, D. K. Grange, G. R. Gogola, J. T. Hecht, D. J. Harris, S. Jagadeesh, L. Garavelli, D. L. Earl, M. J. Bamshad.

232/5:30 A frameshift mutation in MYH3, encoding embryonic myosin heavy chain, causes clubfoot. A. E. Beck, K. M. Bofferding, H. I. Gildersleeve, M. J. McMillin, J. C. Carey, M. J. Bamshad.

233/5:45 VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting: The first description of a VAX1 phenotype in humans. A. M. Slavotinek, R. Chao, M. Yahyavi, H. Abouzeid, T. Bardakjian, A. Schneider, E. H. Sherr, M. Youseff, G. Lemke, D. F. Schorderet.

234/6:00 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. C. Zweier, A. Gregor, B. Albrecht, I. Bader, E. K. Bijlsma, A. B. Ekici, H. Engels, K. Hackmann, D. Horn, J. Hoyer, J. Klapecki, J. Kohlhase, I. Maystadt, S. Nagl, E. Prott, S. Tinschert, R. Ullmann, E. Wohlleber, G. Woods, A. Rauch, A. Reis.

Friday, October 14

4:15 PM–6:15 PM

Concurrent Platform Session C (51-60)

SESSION 60 – Ethical, Legal, Social and Policy Issues

Room 510, Level 5, Convention Center


Moderators: Stephen Lam, Clin. Genetic Services, Hong Kong
  Bartha Knoppers, McGill Univ., Canada


235/4:15 The ethical, legal and social implications of the convergence of cell-free fetal DNA with genomic sequencing. J. S. King, M. E. Nunes, S. E. Kelly, L. C. Sayres, M. Allyse, M. K. Cho.

236/4:30 Ethical approaches to genotype-driven research recruitment. L. M. Beskow.

237/4:45 The attitudes and opinions of genetic researchers and clinicians towards direct-to-consumer genetic testing. P. M. Kaushik, S. M. O'Neill, M. G. Hayes, C. A. Wicklund.

238/5:00 Feedback of individual genetic results to research participants: In favor of a qualified disclosure policy. A. L. Bredenoord, N. C. Onland-Moret, J. J. M. van Delden.

239/5:15 Using legislation to facilitate disclosure of relevant genetic information to genetic relatives: The Australian experience. M. F. A. Otlowski.

240/5:30 Legal provisions related to genetic testing: The German Act on Genetic Testing (GenDG; 2010). H. Tonnies.

241/5:45 Science regulation and the complexities of genomics. J. M. Siqueiros, A. Arellano, E. Schwartz, G. Saruwatari, P. F. Oliva.

242/6:00 Long-term follow-up data collection after newborn screening: Development of a consensus core data set. S. A. Berry, A. M. Brower for Joint Committee, NICHD-NBSTRN Clin. Ctrs. Workgroup & HRSA-NCC/RC Long-Term Follow-Up Workgroup.

Saturday, October 15

8:00 AM–10:00 AM

Concurrent Invited Session IV (61-66)

SESSION 61 – Human Molecular Cytogenetics: Functional Nuclear Architecture and Disease

Room 517D, Level 5, Convention Center


Moderator: Thomas Cremer, LMU Biocenter, Germany


This session is devoted to the functional nuclear organization in space and time, including the structure and arrangements of chromosome territories (CTs), active and silent genes, as well as the topography of machineries for DNA replication, transcription and repair. In order to understand the generation of cell type specific patterns of gene activities during development, cellular reprogramming or pathological gene deregulation events in cancer cells, it is necessary not only to decode the chromatin language, but also to decipher common rules and cell type-specific peculiarities of the nuclear architecture at-large in normal and pathological cell types. Such studies have been strongly facilitated by recent methodological breakthroughs. These include genome-wide analyses of DNA-DNA and DNA-protein interactions in cell populations, as well as advanced light and electron microscopic studies of single cells in complex tissues. Evidence for aberrant features of higher order chromatin arrangements in tumor cell nuclei and cell nuclei from patients with laminopathies point to a broad, yet still little explored clinical impact. It is important to note in this context that chromosome instability is a hallmark of cancer cells, but also common during early mammalian embryogenesis. Evidence that chromatin arrangements change during preimplantation development of mammals underline the importance of major efforts to generate quantitative 4D (space and time) maps of nuclei in normal and pathological cell types. These efforts are indispensable to understand the role of nuclear architecture for normal and pathological gene expression patterns and other nuclear functions.


8:00 AM   Chromosome territories and the interchromatin space: Topography of transcription, DNA replication and repair. T. Cremer. LMU Biocenter, Martinsried, Germany.

8:30 AM   The genome in three dimensions. J. Dekker. Grad. Sch. of Biomed. Sci., Univ. of Massachussetts, USA.

9:00 AM   Nuclear lamina - genome interactions. B. van Steensel. Netherlands Cancer Inst., Amsterdam, Netherlands.

9:30 AM   Role of lamins in normal and pathological nuclear architecture. S. A. Adam. Feinberg Sch. of Med., Northwestern Univ., USA.

Saturday, October 15

8:00 AM–10:00 AM

Concurrent Invited Session IV (61-66)

SESSION 62 – Quantitative Traits in Neurogenetics: The Future of Phenotyping in Neurological, Psychiatric and Developmental Disorders

Room 517BC, Level 5, Convention Center


Moderators: Barbara Franke, Radboud Univ. Nijmegen Med. Ctr., Netherlands
  Tricia A. Thornton-Wells, Vanderbilt Univ., USA


Progress in the study of neurogenetics in humans has been hampered by clinical heterogeneity and a dearth of phenotypic measures that are proximal to neurobiology, much less genetic etiology. Increasingly, neurogenetics researchers are utilizing multiple strategies for collecting rich phenotypic data. Neuropsychological testing is evolving to emphasize etiology rather than just symptomology. There are now multiple neuroimaging technologies that give us a window into in vivo brain structure, function and even histology. Also, the search is well underway for suitable biomarkers of disease from cerebrospinal fluid and from whole blood gene expression profiling. Studies involving such quantitative phenotypes might offer greater insight into the underlying biology of disease than their predecessors that simply used a dichotomous disease status. This session will present examples of neurogenetics research programs that go beyond disease status to utilize quantitative traits, which are potentially more proximal to genetic etiology.


8:00 AM   Introduction. B. Franke. Radboud Univ. Nijmegen Med. Ctr., Netherlands.

8:05 AM   Biomarkers in psychiatry: From genetics to biology to predictive medicine. A. B. Niculescu. Indiana Univ. Sch. of Med., USA.

8:25 AM   Low CD38 expression in lymphoblastoid cells is associated with autism, correlates with IQ and social skills and is reversed by all-trans retinoic acid. R. Ebstein. Natl. Univ. of Singapore, Singapore.

8:45 AM   Intermediate imaging phenotypes and risk mechanisms of psychiatric disorders. P. Kirsch. Central Inst. of Mental Hlth. and Mannheim Sch. of Med., Germany.

9:05 AM   Genomic imaging: The identification of genes involved in brain structure and function. J. Blangero. Texas Biomed. Res. Inst., San Antonio, USA.

9:25 AM   Putting it all together: ENIGMA, enabling neuroImaging genetics through meta-analysis. S. E. Medland. Queensland Inst. of Med. Res., Herston, Australia.

9:45 AM   Questions and answers. T. A. Thornton-Wells. Vanderbilt Univ., USA.

Saturday, October 15

8:00 AM–10:00 AM

Concurrent Invited Session IV (61-66)

SESSION 63 – Lysosomes and Genetic Diseases

Room 520, Level 5, Convention Center


Moderators: Andrea Ballabio, Telethon Fndn. Inst. of Genet. and Med., Naples, Italy
  David C. Rubinsztein, Cambridge Inst. for Med. Res., U.K.


Lysosomes are dynamic membrane-bound organelles that receive and degrade macromolecules from the secretory, endocytic, autophagic and phagocytic pathways. They are also important recycling centers of the cell. Defects in lysosomal function cause a large number of severe genetic diseases that result from lysosomal enzyme deficiencies, aberrant membrane trafficking through the late endocytic pathway and alterations in lysosomal ion concentrations. Lysosomes are also involved in several common neurodegenerative diseases such as Alzheimer’s, Parkinson’s and Huntington’s, either directly or through their role in the authophagy pathway. The session aims at shedding light on how an imbalance in the endo-lysosomal membrane trafficking system has a crucial role in lysosomal storage disorders and neurodegenerative diseases and how the modulation of these trafficking pathways can be instrumental in the design of new therapeutic strategies. This session will bring together experts in different disciplines (e.g. cell biology, systems biology, human genetics, molecular biology, biochemistry etc.) to further our understanding on the mechanisms of lysosomal homeostasis and dysfunction and discuss emerging therapies for the treatment of lysosome-related diseases. The rationale of this session is to share knowledge coming from leading-edge laboratories in the field aimed at outlining the common features of the pathogenic mechanisms that involve the dysfunction of the endo-lysosomal system. Specific topics include: the endo-lysosome system, biological mechanisms of lysosomal disorders and neurodegenerative diseases, and therapeutic approaches to disease.


8:00 AM   Introduction. A. Ballabio. Fondazione Telethon, Naples, Italy.

8:05 AM   Role of the lysosomal sialidase NEU1 as negative regulator of lysosomal exocytosis in pathogenesis. A. d'Azzo. St. Jude Children's Res. Hosp., USA.

8:25 AM   The curious case of CLN3. B. L. Davidson. Univ. of Iowa, USA.

8:45 AM   Autophagy, a guardian against neurodegeneration. D. C. Rubinsztein. Cambridge Inst. for Med. Res., U.K.

9:05 AM   Role of the endo-lysosomal system in neurodegenerative diseases. R. A. Nixon. New York Univ., USA.

9:25 AM   Modulating lysosomal function and cellular clearance. A. Ballabio. Fondazione Telethon, Naples, Italy.

9:45 AM   Discussion. A. Ballabio. Fondazione Telethon, Naples, Italy.

Saturday, October 15

8:00 AM–10:00 AM

Concurrent Invited Session IV (61-66)

SESSION 64 – Nutrigenomics: Genotype by Environment Interaction and Disease Risk

Room 511, Level 5, Convention Center


Moderators: Jose M. Ordovas, USDA at Tufts Univ., USA
  Chao-Qiang Lai, USDA at Tufts Univ., USA


Genome-wide association studies (GWAS) are a powerful tool to identify genetic risk factors of human disease. Only a small fraction of disease risk, however, is identified in a given GWAS, and even fewer genetic variants are replicated in multiple populations. Because genotype by environment (GxE) interactions are crucial in contributing to disease risk, an urgent need exists to examine GxE interactions in GWAS. Nutrigenomics undertakes the study of interactions between genotype and nutrition modulating clinical outcomes or their risk factors. Defining GxE interactions across the spectrum from single SNP or gene studies to large-scale, GWAS will clarify the role of these interactions in disease risk, provide an understanding of how such interactions contribute to disease risk, and allow more accurate predictions of disease risk.


8:00 AM   Introduction. J. M. Ordovas. USDA at Tufts Univ., USA.

8:05 AM   Understanding GxE interaction and cardiovascular disease risk. C-Q. Lai. USDA at Tufts Univ., USA.

8:25 AM   Interaction between whole grain foods and genetic variants on diabetes risk. J. A. Nettleton. Univ. of Texas Sch. of Publ. Hlth., Houston, USA.

8:45 AM   Pharmacogenetics: Understanding an individual’s response to fenofibrate intervention by genome-wide association study. D. K. Arnett. Univ. of Alabama at Birmingham, USA.

9:05 AM   Epigenomics: Understanding individual differences in response to nutrition and aging? J. C. Mathers. Newcastle Univ., U.K.

9:25 AM   Effects of genetic variants and nutritional factors on metabolic disease among Chinese populations. X. Lin. Shanghai Inst. for Biol. Sci., Chinese Acad. of Sci., China.

9:45 AM   Questions and answers. J. M. Ordovas. USDA at Tufts Univ., USA.

Saturday, October 15

8:00 AM–10:00 AM

Concurrent Invited Session IV (61-66)

SESSION 65 – Status and Prospects of Genetic Therapy for Major Mendelian Diseases

Room 517A, Level 5, Convention Center


Moderators: Gert-Jan B. van Ommen, Leiden Univ. Med. Ctr., Netherlands
  Brunhilde Wirth, Univ. Hosp. of Cologne, Germany


Two decades after the discovery of several genes for major Mendelian disorders, the first approaches of mechanism-based therapy have successfully entered the clinical phase. These include Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), Fragile X mental retardation (FraX) and Leber congenital amaurosis (LCA). The approaches cover a great diversity, including splice modulation by antisense oligonucleotides, chromatin alteration by histone deacetylase inhibitors, compound library screening for small molecules with specific effects, and local injection of viral vectors. The speakers will present one example of each approach: exon skipping for DMD, HDAc inhibition in SMA, compound screening for GABAergic inhibition in FraX, and subretinal viral injection for LCA. As the approaches modulate key mechanisms in cell biology, it is plausible that future applications, following refinement in their target diseases—with their advantage of well-defined readouts—may well extend to other conditions including complex disease.


8:00 AM   Antisense-based exon skipping as a therapy for DMD and other disorders. G-J. B. van Ommen. Leiden Univ. Med. Ctr., Netherlands.

8:25 AM   The use of HDAc inhibitors to upregulate SMN2 in SMA. B. Wirth. Univ. Hosp. of Cologne, Germany.

8:50 AM   From gene to bedside: Translating lessons from Fragile X syndrome. S. Warren. Emory Univ., USA.

9:15 AM   Recombinant AAV gene therapy of Leber congenital amaurosis. S. G. Jacobson. Univ. of Pennsylvania, USA.

9:40 AM   Questions and answers. G-J. B. van Ommen. Leiden Univ. Med. Ctr., Netherlands.

Saturday, October 15

8:00 AM–10:00 AM

Concurrent Invited Session IV (61-66)

SESSION 66 – Intellectual Disability and Autism: Two Sides of the Same Coin

Room 210, Level 2, Convention Center


Moderators: Charles E. Schwartz, Greenwood Genet. Ctr., Greenwood, SC, USA
  Giovanni Neri, Catholic Univ. of Rome, Italy


Autistic disorder (AD) and intellectual disability (ID) are neurodevelopmental disorders comprised of patients representing a constellation of numerous conditions or syndromes. They are recognized in childhood, persist into adulthood requiring long-term family involvement and a significant level of social services. The causation of AD is known in less than 20% of cases and greater than 90% of patients have no known family history. For ID, after extensive evaluation and laboratory testing, at least 50% of individuals with ID cannot be assigned a definitive diagnosis. However, with recent advances in cytogenetics, sequencing and systems biology, important inroads have been made in unraveling the genetics of these two very important neurodevelopmental disorders. This session will present overviews of recent CNV findings, the movement from research to diagnosis, the role of synaptic pathways and the promise of systems biology to integrate many levels of data into an understandable model of CNS function.


8:00 AM   Introduction. C. E. Schwartz. Greenwood Genet. Ctr., Greenwood, SC, USA.

8:05 AM   Aspects of clinical genetics in autism spectrum disorders: Patient evaluation, diagnostic tests and counseling of families. F. Gurrieri. Univ. Cattolica S. Cuore, Rome, Italy.

8:28 AM   Disruption of synaptic pathways in intellectual disability and autism spectrum disorders. J. D. Buxbaum. Mount Sinai Med. Ctr., USA.

8:51 AM   Copy number variation and variability in neuropsychiatric disease. E. E. Eichler. Univ. of Washington, USA.

9:14 AM   Functional impact of global rare copy number variation in autism spectrum disorder. S. W. Scherer. Hosp. for Sick Children, Toronto, Canada.

9:37 AM   Functional genomic investigations of autism suggests molecular convergence. D. Geschwind. UCLA, USA.

Saturday, October 15

10:30 AM–12:30 PM

SESSION 67 – Plenary Session: Diseases, Populations and Evolution: From the Cellular to the Continental

Room 210, Level 2, Convention Center


Moderator: Partha Majumder, Natl. Inst. of Biomed. Genomics, India


As the structure, sequence, and function of the genome are delineated, scientists are using that information to understand the origins of populations as well as the origins of specific diseases. Cancers, with their somatic changes, provide an opportunity to compare constituent DNA sequence and tumor sequence to learn about DNA changes related to the origin of the disease(s). The cataloging of these sequences, mutations, and structural alterations will help us determine the evolutionary processes of cancer development, which should improve prevention and treatment. Equally challenging is the evolution of human populations with respect to the origins and frequencies of genetic disease. India, with over 4500 anthropologically defined groups, comprises tremendous human genetic diversity, and the relationship among those populations is currently being defined. Differences reflect geographic, caste, and other ancestral variations. Genetic variations also can be related to differences in the distribution and frequency of specific genetic disorders. In this session, the speakers will report on their own work resolving medically relevant evolutionary genetic relationships at two very different scales.


10:30 Introduction. P. Majumder. Natl. Inst. of Biomed. Genomics, India.

10:35 Evolution of the cancer genome. M. R. Stratton. Wellcome Trust Sanger Inst., U.K.

11:15 Genetic diversity in Indian populations and its health implications. L. Singh. Ctr. for Cellular and Molec. Biol., CSIR, India.

243/11:55 The genetic history of Native Americans. D. Reich, N. Patterson, D. Campbell, A. Tandon, S. Mazieres, N. Ray, C. M. Bravi, M.-C. Bortolini, F. Salzano, M. L. Letzl-Erler, V. Acuña-Alonzo, S. Canizales-Quniteros, T. Tusié-Luna, J. Molina, A. Carracedo, C. Gallo, G. Alkorta-Aranburu, D. Labuda, R. Barrantes, L. Excoffier, G. Bedoya, F. Rothhammer, W. Klitz, J. Kidd, K. Kidd, A. Di Rienzo, N. Freimer, A. Price, A. Ruiz-Linares.

244/12:10 A gene involved in metabolism modulates natural variation in sleep duration: From genome-wide association studies to function in Drosophila. K. Allebrandt, N. Amin, B. Müller-Myhsok, T. Esko, M. Teder-Laving, R. Azevedo, C. Hayward, J. van Mill, N. Vogelzangs, E. Green, S. Melville, P. Lichtner, H. Wichmann, B. Oostra, C. Janssens, H. Campbell, J. Wilson, A. Hicks, P. P. Pramstaller, Z. Dogas, I. Rudan, M. Merrow, B. Penninx, C. Kyriacou, A. Metspalu, C. van Duijn, T. Meitinger, T. Roenneberg.

12:25 Questions and answers. P. Majumder. Natl. Inst. of Biomed. Genomics, India.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 68 – Clinical Genetics III: Copy Number Variants and Disease

Room 210, Level 2, Convention Center


Moderators: Neil Hanchard, Baylor Col. of Med., USA
  Anita Rauch, Univ. of Zurich, Switzerland


246/1:30 17p13.3 Microduplications are associated with split-hand/foot malformation and long bone deficiency. C. Armour, D. E. Bulman, O. Jarinova, R. C. Rogers, K. B. Clarkson, B. R. DuPont, A. Dwivedi, F. O. Bartel, L. McDonell, C. E. Schwartz, K. M. Boycott, D. B. Everman, G. E. Graham.

245/1:45 Non-Mendelian inheritance in split-hand/foot malformation associated with CNVs on chromosome 17p. E. Klopocki, S. Lohan, S. C. Doelken, S. Stricker, C. W. Ockeloen, R. Soares Thiele de Aguiar, K. Lezirovitz, R. C. Mingroni Netto, A. Jamsheer, H. Shah, I. Kurth, R. Habenicht, M. Hempel, M. Warman, K. Devriendt, U. Kordass, A. Rajab, O. Mäkitie, M. Naveed, U. Radhakrishna, S. E. Antonarakis, D. Horn, S. Mundlos.

247/2:00 A copy number variation morbidity map of developmental delay. B. P. Coe, G. M. Cooper, S. Girirajan, J. A. Rosenfeld, T. Vu, C. Baker, C. Williams, H. Stalker, R. Hamid, V. Hannig, H. Abdel-Hamid, P. Bader, E. McCracken, D. Niyazov, K. Leppig, H. Thiese, M. Hummel, N. Alexander, J. Gorski, J. Kussmann, V. Shashi, K. Johnson, C. Rehder, B. Ballif, L. G. Shaffer, E. E. Eichler.

248/2:15 Single gene copy number abnormalities in syndromic cardiovascular malformations. J. Belmont, Q. Tian, J. Flores, M. Azamian, P. M. Boone, C. Shaw, S. Ware, J. R. Lupski, A. Ester, L. Patterson, S. W. Cheung, D. Penny, S. Lalani.

249/2:30 De novo and rare inherited genomic alterations reveal genes responsible for isolated congenital diaphragmatic hernia and pentalogy of Cantrell phenotypes. D. A. Scott, M. J. Wat, D. Veenma, J. Hogue, A. M. Holder, Z. Yu, J. J. Wat, N. Hanchard, O. A. Shchelochkov, C. J. Fernandes, A. Johnson, K. P. Lally, A. Slavotinek, O. Danhaive, T. Schaible, S. W. Cheung, K. A. Rauen, V. S. Tonk, D. Tibboel, A. de Klein.

250/2:45 A DNA copy number variant conferring increased susceptibility to expressive speech delay in a distinct population. W. Wiszniewski, J. V. Hunter, N. A. Hanchard, Q. Tian, S. W. Cheung, P. Stankiewicz, A. Ester, M. K. York, P. Bader, G. Scharer, H. Crawford, A. Mutirangura, P. Yanatatsaneejit, J. Kerr, M. Hurles, R. Goin-Kochel, G. Zapata, G. Simpson, L. Immken, M. E. Haque, M. Stosisc, N. Van Vink Chau, S. Dunstan, C. Simmons, M. Hibberd, C. C. Khor, M. Maletic-Savatic, J. W. Belmont, J. R. Lupski, S. R. Lalani.

251/3:00 Further clinical and molecular delineation of the 15q24 microdeletion syndrome: Fifteen newly reported patients and two atypical deletions. H. Mefford, J. Rosenfeld, N. Shur, A. Slavotinek, V. Cox, R. Hennekam, H. Firth, L. Willatt, P. Wheeler, E. Morrow, J. Cook, R. Sullivan, A. Oh, J. Zonana, K. Keller, M. Hannibal, S. Ball, J. Kussmann, J. Gorski, S. Zelewski, V. Banks, W. Smith, R. Smith, L. Paull, K. Rosenbaum, D. Amor, J. Silva, A. Lamb, E. Eichler.

252/3:15 Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. M. Palomares Bralo, A. Delicado, E. Mansilla, M. L. de Torres, E. Vallespín, L. Fernández, V. Martinez- Glez, S. García-Miñaur, J. Nevado, F. Santos Simarro, V. L. Ruiz-Perez, S. A. Lynch, F. H. Sharkey, A. C. Thuresson, G. Annerén, E. F. Belligni, M. L. Martínez-Fernández, E. Bermejo, B. Nowakowska, A. Kutkowska-Kazmierczak, E. Bocian, E. Obersztyn, M. L. Martínez-Frías, R. C. M. Hennekam, P. Lapunzina.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 69 – Statistical Genetics IV: Rare Variants

Room 517BC, Level 5, Convention Center


Moderators: Mingyao Li, Univ. of Pennsylvania, USA
  Peter Robinson, Inst. for Med. Genetics, Charite, Germany


253/1:30 "Peeking near the peaks" for large-effect rare variants. A. Coventry, L. Bull-Otterson, A. Keinan, X. Liu, A. Clark, T. Maxwell, J. Hixson, T. Rea, A. Templeton, D. Muzny, L. Lewis, D. Villasana, E. Boerwinkle, R. Gibbs, C. Sing.

254/1:45 A unified strategy for rare variant testing: Combined burden-based and similarity-based testing. E. Urrutia, M. Wu.

255/2:00 A powerful association test of rare variants using a random effect model. K. F. Cheng, J. Y. Lee, C. Li.

256/2:15 A new Bayesian graphical model for detecting rare variant disease associations. Y. Zhang, K. Wang, H. Hakonarson, S. Ghosh.

257/2:30 A new analytical approach to prove the involvement of a rare variant in disease susceptibility. F. Clerget-Darpoux, H. Perdry, P. Broet, B. Muller-Myhsok.

258/2:45 Finding rare variants in GWAS and exome sequencing data by making use of recent common founder information. W. Yang, L. Zhang, D. Ying, P. C. Sham, Y. L. Lau.

259/3:00 Rare variant analysis in genetic association studies under quantitative trait-dependent sampling designs. Y. E. Yilmaz, J. F. Lawless, S. B. Bull.

260/3:15 Disease risk prediction to prioritize individuals and families for whole-genome sequencing experiments. L. Jostins, A. P. Levine, L. B. Lovat, A. P. Walker, A. W. Segal, J. C. Barrett.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 70 – Advances in Technology

Room 517D, Level 5, Convention Center


Moderators: Orli Bahcall, Nature Genetics
  Donna Muzny, Baylor Col. of Med., USA


261/1:30 Indexing and deep sequencing of a point mutation in mosaic samples from Proteus syndrome: Alternative detection strategies. M. J. Lindhurst, J. K. Teer, J. J. Johnston, E. M. Finn, J. C. Sapp, J. C. Mullikin, L. G. Biesecker.

262/1:45 Use and performance of the metabochip genotyping array in African Americans: The PAGE Study. S. Buyske, Y. Wu, J. L. Ambite, T. Assimes, E. Boerwinkle, C. Carty, I. Cheng, B. Cochran, D. Duggan, L. Dumitrescu, M. Fesinmeyer, C. A. Haiman, J. Haessler, L. Hindorff, H. M. Kang, C. Kooperberg, Y. Lin, L. Le Marchand, T. Matise, S. Mitchell, K. Mohlke, U. Peters, F. Schumacher, B. F. Voight, D. Crawford, K. North.

263/2:00 Integrated genotyping of SNPs from multiple independent technologies: A framework and applications. J. Flannick, J. Korn, P. Fontanillas, G. Grant, D. A. Altshuler.

264/2:15 Genotyping and sequencing on conductive nanowires: DNA testing “while you wait”. J. Burn, S. P. Whitehouse, E. Warburton, J. O'Halloran.

265/2:30 Rapid diagnosis of glycogen storage diseases by next-generation sequencing. S. Abbs, F. Smith, T. Cullup, C. Deshpande, H. Mundy, K. Bhattacharya, M. Champion, S. C. Yau.

266/2:45 Exome sequencing to determine genome-wide DNA copy number variation. A.-M. Sulonen, H. Edgren, P. Ellonen, H. Almusa, O. Kallioniemi, J. Saarela.

267/3:00 Development and biological validation of a high-throughput long non-coding RNA gene expression platform. J. Hellemans, P. Mestdagh, S. Lefever, F. Pattyn, F. Speleman, J. Vandesompele.

268/3:15 Use of PiggyBac-mediated transient transgenic RNAi expression for rapid characterization of mammalian gene function. B. C. Bjork, D. R. Beier.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 71 – Neurogenetics IV: Schizophrenia and Epilepsy

Room 517A, Level 5, Convention Center


Moderators: Sven Cichon, Univ of Bonn, Germany
  Dalila Pinto, Hosp. for Sick Children, Univ. of Toronto, Canada


269/1:30 Functional analysis of chimeric genes in schizophrenia. C. Rippey, M. Cahill, A. Nord, T. Walsh, M. Lee, P. Penzes, J. McClellan, M.-C. King.

270/1:45 A comprehensive study identifies multiple genetic variants for schizophrenia. E. Van den Oord, K. Aberg, Y. Liu, J. Bukszár, J. McClay, A. Khachane, O. Andreassen, D. Blackwood, A. Corvin, S. Djurovic, H. Gurling, R. Ophoff, C. Pato, M. Pato, B. Riley, B. Webb, K. Kendler, M. O'Donovan, N. Craddock, G. Kirov, M. Owen, D. Rujescu, D. St. Clair, T. Werge, C. Hultman, L. Delisi, P. Sullivan.

271/2:00 Gene discovery for schizophrenia by exome sequencing of multiply-affected consanguineous Palestinian families. H. Shahin, C. Rippey, T. Walsh, M. Lee, U. Sharaha, I. Ikhmayyes, I. Banoura, J. McClellan, M. Kanaan, M. C. King.

272/2:15 De novo copy number variants confer risk for early onset bipolar disorder and schizophrenia. J. Sebat, S. McCarthy, V. Vacic, K. E. Burdick, S. Cichon, A. Corvin, S. Gary, E. S. Gershon, M. Karayiorgou, J. R. Kelsoe, O. Krastoshevsky, V. Krause, E. Leibenluft, D. L. Levy, A. Malhotra, F. McMahon, J. Michaelson, J. Potash, M. Reitschel, T. Schulz, D. Malhotra.

273/2:30 Small-scale exome-sequencing study followed by large-scale follow-up to detect genetic variants that increase the risk of idiopathic generalized epilepsy. E. Heinzen, E. Ruzzo, C. Depondt, G. Cavalleri, R. Radtke, K. Shianna, D. Ge, C. Catarino, G. O'Conner, S. Sisodiya, N. Delanty, D. Goldstein, EPIGEN Consortium.

274/2:45 Homozygosity mapping and new generation sequencing identify three childhood onset symptomatic epilepsy candidate genes. M. Kousi, V. Anttila, S. Calafato, A. J. Coffey, E. Jakkula, M. Topcu, S. Gokben, D. Yuksel, F. Alehan, O. Kopra, A. Palotie, A. E. Lehesjoki.

275/3:00 Sushi-repeat protein Srpx2 implicated in epileptic disorders of the speech cortex: In utero RNA silencing causes altered development of the rat brain cortex. J. Cillario, N. Bruneau, M. Salmi, E. Buhler, C. Zimmer, A. Massacrier, F. Watrin, R. Cloarec, C. Cardoso, P. Durbec, F. Muscatelli-Bossy, A. Represa, P. Szepetowski.

276/3:15 Recurrent 450 kb deletions in 2q21.1, including brain specific ARHGEF4, in patients with ADHD, epilepsy, and neurobehavioral abnormalities. P. Stankiewicz, A. V. Dharmadhikari, P. Szafranski, J. P. Phillips III, V. Hannig, M. Williams, P. I. Bader, S. S. Vinson, A. A. Wilfong, W. J. Craigen, A. Patel, W. Bi, J. R. Lupski, S. W. Cheung, S.-H. L. Kang.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 72 – Complex Traits II: Genome-Wide Association Studies

Room 520, Level 5, Convention Center


Moderators: Claire Bellis, Texas Biomed. Res. Inst., USA
  Harald Goring, Texas Biomed. Res. Inst., USA


277/1:30 Genome-wide association study of TB in the South African Colored population: Comprehensive gene and pathway-based association study. R. E. C. Emile Chimusa, M. M. Marlo Möller, E. G. H. Eileen G. Hoal, N. M. Nicola Mulder.

278/1:45 Use of a large pedigree from the genetic isolate of Norfolk Island to localize a novel X chromosomal migraine susceptibility locus. L. R. Griffiths, B. Maher, H. Cox, L. M. Haupt, C. Bellis, J. Blangero, J. Curran, R. A. Lea.

279/2:00 Novel loci identified by the largest genome-wide association study of lupus to date. J. Bentham, D. L. Morris, M. E. Alarcón-Riquelme, V. Anand, A. M. Delgado-Vega, P. R. Fortin, J. Martín, C. L. Pinder, J. D. Rioux, J. E. Wither, D. S. Cunninghame Graham, T. J. Vyse, CaNIOS-GenES, BIOLUPUS.

280/2:15 Independent rare and common variants underly association signals for celiac disease. G. Trynka, K. A. Hunt, J. Romanos, L. Franke, Coeliac Disease Genetics Consortium, WTCCC, S. Onengut-Gumuscu, R. H. Duerr, P. Deloukas, V. Plagnol, D. A. van Heel, C. Wijmenga.

281/2:30 Targeted sequencing of coding regions implicated via GWAS discovers novel rare causal mutations influencing inflammatory bowel disease. M. A. Rivas, M. Beaudoin, A. Gardet, C. Stevens, Y. Sharma, F. Kuruvilla, D. Ellinghaus, M. Dubinsky, S. B. Brant, R. H. Duerr, D. Altshuler, S. Gabriel, G. Lettre, A. Franke, M. D'Amato, D. P. B. McGovern, J. H. Cho, J. D. Rioux, R. J. Xavier, M. J. Daly, NIDDK and International IBD Genetics Consortium.

282/2:45 Genetic pleiotropy in the inflammation-related quantitative trait loci. Y. Okada, A. Takahashi, M. Kubo, Y. Nakamura, K. Yamamoto, N. Kamatani.

283/3:00 Novel loci identified for osteoarthritis. K. Panoutsopoulou on behalf of arcOGEN Consortium and Replication Studies.

284/3:15 Genome-wide association study finds 9 susceptibility loci for Dupuytren’s disease and suggests a major role for WNT-signaling. G. H. C. G. Dolmans, P. M. N. Werker, H. C. Hennies, D. Furniss, E. A. Festen, L. Franke, K. Becker, P. van der Vlies, B. H. Wolffenbuttel, S. Tinschert, M. R. Toliat, M. Nothnagel, A. Franke, N. Klopp, H.-E. Wichmann, P. Nürnberg, H. Giele, R. A. Ophoff, C. Wijmenga.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 73 – Genomics IV: Disease and Chromatin

Room 511, Level 5, Convention Center


Moderators: Alex Hoischen, Radboud Univ. Nijmegen, Netherlands
  Matthew Hurles, Wellcome Trust Sanger Inst., U.K.


285/1:30 Rare coding mutations and risk for early-onset myocardial infarction: An exome sequencing study of >2,000 cases and controls. R. Do on behalf of NHLBI Exome Sequencing Project, Early-Onset Myocardial Infarction.

286/1:45 Identification of familial cancer susceptibility genes using whole exome sequencing. I. G. Campbell, J. Ellul, J. Li, M. Doyle, E. R. Thompson.

287/2:00 Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson’s disease modifier gene via interaction with coffee. H. Payami, T. H. Hamza, H. Chen, E. M. Hill-Burns, S. L. Rhodes, J. Montimurro, D. M. Kay, A. Tenesa, V. I. Kusel, P. Sheehan, M. Eaaswarkhanth, D. Yearout, A. Samii, J. W. Roberts, P. Agarwal, Y. Bordelon, Y. Park, L. Wang, J. Gao, J. M. Vance, K. S. Kendler, S. Bacanu, W. K. Scott, B. Ritz, J. Nutt, C. P. Zabetian, S. A. Factor.

288/2:15 Targeted next-generation DNA sequencing of the mitochondrial proteome. A. G. Compton, S. E. Calvo, S. G. Hershman, S. C. Lim, C. Garone, E. J. Tucker, A. Laskowski, D. S. Lieber, S. Liu, J. Christodoulou, J. M. Fletcher, S. DiMauro, D. R. Thorburn, V. K. Mootha.

289/2:30 Megabase deletion of the William-Beuren syndrome critical region reveals remarkable robustness in chromatin interaction landscape. N. Gheldof, M. Leleu, J. Rougemont, A. Reymond.

290/2:45 Variation in chromatin accessibility is a key determinant of heritable variation in gene expression. J. Degner, A. Pai, R. Pique-Regi, J. B. Veyrieras, D. Gaffney, J. Pickrell, S. De Leon, K. Michelini, N. Lewellen, G. Crawford, M. Stephens, Y. Gilad, J. Pritchard.

291/3:00 Cell- and individual-specific open chromatin in primary human blood cells. P. Deloukas, K. Voss, S. Kanoni, C. A. Albers, A. Rendon, K. Stirrups, D. Paul.

292/3:15 A complete haploid human reference genome using a hydatidiform mole resource. W. C. Warren, R. Agarwala, T. Graves, C. Alkan, F. Antonacci, M. Dennis, B. Fulton, S. Shiryaev, D. M. Church, P. Minx, U. Surti, M. Nefedov, P. J. de Jong, E. Mardis, E. Eichler, R. K. Wilson.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 74 – From Sequence to Function

Room 516, Level 5, Convention Center


Moderators: Hamish Scott, SA Pathology, Australia
  Brunhilde Wirth, Univ. of Cologne, Germany


293/1:30 Identification of three novel genes for Kleefstra syndrome-associated phenotypes establishes a chromatin modification module of the EHMT1 gene network. T. Kleefstra, J. Kramer, L. E. L. M. Vissers, M. H. Willemsen, K. Neveling, T. Koemans, W. M. Nillesen, H. Zhou, T. Prescott, R. D. Clark, W. Wissink-Lindhout, H. G. Brunner, A. P. M. de Brouwer, H. G. Stunnenberg, J. A. Veltman, A. Schenck, H. van Bokhoven.

294/1:45 Functional evaluation of candidate mutations identified in whole-exome sequencing of patient genomes. Y. Hitomi, E. K. Ruzzo, K. Pelak, K. V. Shianna, D. B. Goldstein.

295/2:00 Identification of non-coding mutations in X-linked intellectual disability. J. Gecz, L. L. Huang, S. Willis-Owen, M. Field, A. Hackett, M. Shaw, C. Shoubridge, A. Gardner, M. Corbett.

296/2:15 Small lethal non-coding copy-number variations in the gene desert region on 16q24.1. P. Szafranski, A. de Klein, J. Pinner, K. E. Kolodziejska, Z. Ou, K. N. Mohan, M. Chopra, G. Peters, S. Arbuckle, S. F. Guiang, V. Hustead, R. Hirsch, D. Witte, C. Langston, P. Sen, P. Stankiewicz.

297/2:30 Iron homeostasis modulates the activity of microRNA pathway through PCBP2. Y. Li, L. Lin, Z. Li, X. Ye, B. Aryal, Z. Paroo, Q. Liu, C. He, P. Jin.

298/2:45 Genome-wide poly(A) mapping reveals widespread changes in use of polyadenylation sites in oculopharyngeal muscular dystrophy. E. de Klerk, A. Venema, S. Y. Anvar, J. J. Goeman, J. T. den Dunnen, G. B. van Ommen, S. M. van der Maarel, V. Raz, P. A. C. 't Hoen.

299/3:00 Transcriptional activation of lysosomal exocytosis promotes cellular clearance. D. L. Medina, A. Fraldi, V. Bouche, F. Annunziata, G. Mansueto, C. Spampanato, C. Puri, A. Pignata, J. A. Martina, M. Sardiello, R. Polishchuk, R. Puertollano, A. Ballabio.

300/3:15 Development and pharmacological rescue of a murine model of primary open angle glaucoma. G. Zode, M. Kuehn, C. Searby, K. Mohan, S. Grozdanic, D. Nishimura, K. Bugge, M. Anderson, A. Clark, E. Stone, V. Sheffield.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 75 – Molecular Basis IV: Musculoskeletal Disorders

Room 710A, Level 7, Convention Center


Moderators: David Stevenson, Univ. of Utah., USA
  Michele Ramsay, Natl. Hlth. Lab., Johannesburg, South Africa


301/1:30 Modeling the complex human disorder of tooth agenesis in mouse by combinatorial reduction in gene dosage of Prdm16, Pax9, and Msx1. I. Saadi, B. C. Bjork, J. J. Lund, X. P. Wang, T. Siggers, D. J. O'Connell, P. Purcell, A. Turbe-Doan, J. M. Dobeck, R. Meira, J. R. Avila, A. Modesto, Z. Skobe, M. L. Bulyk, A. R. Vieira, J. C. Murray, D. R. Beier, R. L. Maas.

302/1:45 Exome sequencing combined with functional analysis of zebrafish mutants elucidates a novel pathogenesis in high bone mass osteogenesis imperfecta. K. Keupp, A. Nair, O. Semler, Y. Li, H. Thiele, P. Frommolt, J. Becker, N. Arkasu, E. Schoenau, P. Nürnberg, M. Hammerschmidt, T. Carney, B. Wollnik.

303/2:00 Recessive mutations in the guanidine nucleotide exchange factor DOCK6 lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. R. Shaheen, E. Faqeih, A. Sunker, H. Morsy, T. Al-Sheddi, H. E. Shamseldin, N. Adly, M. Hashem, F. S. Alkuraya.

304/2:15 Exome sequencing identifies phospholipase B4 (PLCB4) as a gene causing auriculocondylar syndrome. M. J. Rieder, G. E. Green, C. M. Cunniff, B. D. Stamper, S. S. Park, J. M. Johnson, S. B. Emery, T. C. Cox, A. V. Hing, J. A. Horst, M. L. Cunningham.

305/2:30 Dominant negative mutations affect the cytoplasmic functions of the co-chaperone DNAJB6 and cause limb-girdle muscular dystrophy. C. Golzio, J. Sarparanta, P. H. Jonson, S. Sandell, H. Luque, M. Screen, K. McDonald, J. M. Stajich, I. Mahjneh, A. Vihola, O. Raheem, S. Penttilä, S. Lehtinen, S. Huovinen, J. Palmio, G. Tasca, E. Ricci, P. Hackman, M. Hauser, N. Katsanis, B. Udd.

306/2:45 Mutations in CLMP cause congenital short bowel syndrome, pointing to the major role of CLMP in intestinal development. R. M. W. Hofstra, C. van der Werf, T. D. Wabbersen, N. H. Hsiao, J. Paredes, H. C. Etchevers, P. M. Kroisel, D. Tibboel, C. Babarit, R. A. Schreiber, E. J. Hoffenberg, M. Vekemans, S. J. Zeder, I. Ceccherini, S. Lyonnet, A. S. Ribeiro, R. Seruca, G. J. te Meerman, S. C. D. van Ijzendoorn, I. T. Shepherd, J. B. G. M. Verheij.

307/3:00 Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. G. J. Lyon, A. Rope, K. Wang, R. Evjenth, J. Xing, J. J. Johnston, J. Swensen, W. E. Johnson, B. Moore, C. D. Huff, L. M. Bird, J. C. Carey, J. M. Opitz, C. A. Stevens, C. Schank, H. Fain, R. Robison, B. Dalley, S. Chin, S. South, T. J. Pysher, L. B. Jorde, H. Hakonarson, J. R. Lillehaug, L. G. Biesecker, M. Yandell, T. Arnesen.

308/3:15 Whole exome sequencing reveals de novo variants that affect chromatin remodeling processes in Nicolaides-Baraitser syndrome patients. J. K. J. Van Houdt, B. Nowakowska, S. B. de Sousa, B. D. C. van Schaik, E. Seuntjes, A. Sifrim, Y. Moreau, G. Peeters, K. Devriendt, R. C. M. Hennekam, J. R. Vermeesch.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 76 – Genetic Screening and Education

Room 710B, Level 7, Convention Center


Moderators: Giovanni Romeo, Univ. of Bologna, Italy
  Andrew Faucett, Geisinger Genome Med. Inst.., USA


309/1:30 Genetic counsellor education and professional standing in 17 European countries. C. Cordier, U. Hosterey-Ugander, D. Lambert, M. A. Voelckel, H. Skirton.

310/1:45 Differences observed in the communication of breast cancer risk factors among European GPs and breast surgeons. C. M. Julian-Reynier, D. G. R. Evans, A. D. Bouhnik, H. Harris, C. Van Asperen, A. Tibben, J. Schmidtke, I. Nippert.

311/2:00 Estonian public attitude towards and expectations for personalized medicine. L. Leitsalu, A. Allik, A. Metspalu.

312/2:15 First trimester screening, it’s not a routine test: An education module for general practitioners to help women to make an informed choice. K. Dunlop, K. Barlow-Stewart.

313/2:30 Increasing the ability to predict FMR1 repeat instability: Regression analysis of CGG/AGG structure in 546 transmissions from parents with 45-69 CGG repeats. E. G. Allen, S. L. Sherman, S. L. Nolin, A. Glicksman, E. Berry-Kravis, F. Tassone, C. Yrigollen, A. Cronister, M. Jodah, N. Ersalesi, W. T. Brown, R. Shroff, S. Sah, G. J. Latham, A. G. Hadd.

314/2:45 Twenty-six years of prenatal testing for Duchenne and Becker muscular dystrophy in the Netherlands: Has it made an impact? A. T. J. M. Helderman-van den Enden, K. M. Madan, M. H. Breuning, A. H. van der Hout, E. Bakker, C. E. M. de Die-Smulders, H. B. Ginjaar.

315/3:00 Tryptic peptide analysis of WBC to diagnose genetic disorders: Application to primary immunodeficiency disorders and nephropathic cystinosis. S. Hahn, S. Kerfoot, S. Jung, V. Vasta, K. Golob, T. Torgerson, T. Vilboux, W. Gahl.

316/3:15 Genetic test evaluation models: How well do they fit the translational process? F. E. Caballero, R. N. Battista, A. M. Laberge.

Saturday, October 15

1:30 PM–3:30 PM

Concurrent Platform Session D (68-77)

SESSION 77 – Cancer Genetics III: Susceptibility to Outcome

Room 510, Level 5, Convention Center


Moderators: Thomas J. Hudson, Ontario Inst. for Cancer Res., Canada
  Johji Inazawa, Tokyo Med. & Dent. Univ., Japan


317/1:30 A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population. J. Batra, F. Lose, S. Chambers, R. Gardiner, J. Aitkin, J. Yaxley, J. Clements, A. Spurdle, Australian Prostate Cancer BioResource.

318/1:45 Polymorphisms in MMPs, TIMPs, and RECK interact to influence susceptibility to prostate cancer and aggressive disease among two groups of African American men. W. Hernandez, S. Hooker, R. Kittles.

319/2:00 Exome sequencing reveals sequential alterations of cancer driver genes during progression of metastatic prostate cancer. M. L. Nickerson, K. M. Im, K. J. Misner, A. L. Yates, D. W. Wells, H. C. Bravo, K. Fredrikson, W. Tan, M. Yeager, P. Milos, B. Zbar, G. S. Bova, M. Dean.

320/2:15 Genomic signatures of metastasis in prostate cancer. A. Pearlman, C. Campbell, E. Brooks, A. Genshaft, S. Shajahan, M. Ittmann, G. Bova, J. Melamed, I. Holcomb, R. Schneider, Y. Shao, H. Ostrer.

321/2:30 Most, but not all, common risk alleles for colorectal cancer act through predisposition to adenomas. L. G. Carvajal-Carmona, A. G. Zauber, A. M. Jones, J. Wang, D. Morton, M. M. Bertagnolli, I. Tomlinson.

322/2:45 Variation in epigenetic regulatory pathways and breast cancer susceptibility. T. Kirchhoff, J. Rendleman, Y. Antipin, B. Reva, C. Sander, M. M. Gaudet, R. J. Klein, K. Offit.

323/3:00 Alteration of PBRM1 and VHL in clear cell renal cancer. M. Dean, K. M. Im, K. Misner, D. Wells, B. Gold, L. S. Schmidt, B. Zbar, N. Rothman, W.-H. Chow, F. Waldman, W. M. Linehan, L. E. Moore, M. L. Nickerson.

324/3:15 A new disease: Retinoblastoma driven by MYCN amplification with normal RB1 tumor suppressor gene alleles. B. L. Gallie, D. E. Rushlow, S. Yee, J. Y. Kennett, P. Boutros, N. L. Prigoda-Lee, W. Halliday, S. Pajovic, C. Spencer, B. L. Thériault, H. Dimaras, A. Raizis, C. Houdayer, D. Lohmann.

Saturday, October 15

3:45 PM–4:30 PM

SESSION 78 – Closing Plenary Session: The Grandest Challenge: Bringing Life Sciences from Lab to Village

Room 210, Level 2, Convention Center


Moderator: Lynn B. Jorde, Univ. of Utah, USA


A child in the developing world is 13 times more likely to die under the age of five as one in the rich world, and a poor woman is 50 times more likely to die in pregnancy and childbirth. These shocking inequities have many causes, but among the solutions is innovation. New knowledge and technologies in genetics, genomics, biotechnology and life sciences can help to close these gaps. However, the path from lab to village has many hurdles: scientific, ethical, and commercial. This talk will explore how these barriers can be surmounted and how innovation saves lives in the developing world.

Speaker: P. Singer, MaRS Ctr., Canada


The grandest challenge: Bringing life sciences from lab to village. P. Singer. McLaughlin-Rotman Centre for Global Health, Canada.

Saturday, October 15

4:30 PM–5:15 PM

SESSION 79 – Closing Remarks

Room 210, Level 2, Convention Center


As we say farewell and reflect on the past wonderful and exciting five days in Montreal, distinguished leaders of the Congress, IFHGS and ASHG will provide comments of thanks and will "pass the torch" onto the next host (the East Asian Union of Human Genetics Societies) of the 13th International Congress of Human Genetics scheduled to be held in Yokohama, Japan, September 4-9, 2016.

Judith G. Hall, ICHG 2011 President; Judith E. Allanson, ICHG 2011 Secretary-General; Lynn B. Jorde, ASHG 2011 President; Yoichi Matsubara, IFHGS President; Diana W. Bianchi, ICHG 2011 Program Co-chair: David L. Nelson, ICHG 2011 Program Co-chair.