58th Annual ASHG Meeting: Session Listing

Session Listing

Wednesday, November 12

8:00 AM–9:30 AM

Concurrent Education and Social Issues Sessions I (1-4)

SESSION 1 – 2030: The Future Face of Genetics Education

Room 103

Co-Moderators: Kenna M. Shaw, Nature Publishing Group, Washington, DC; and Adam Hott, HudsonAlpha Institute for Biotechnology, Huntsville, AL

The continual expansion of our understanding of genetics content requires that those involved in genetics education evolve new and innovative strategies for ensuring an educated population. This session will highlight endeavors currently being pursued to enhance the future of genetics education. The future of genetics education includes the development of a tool to measure genetics conceptual understanding effectively, an interactive textbook design that is easily accessible, a new face of student/teacher interactions in both real-time and in a virtual environment, and the technology needed for medical practitioners to access information at their fingertips. The strategies and technologies used to educate the world about genetics is certain to change over the next twenty-five years to provide exciting and more accessible information to the masses.

8:00 AM Introduction. K. M. Shaw, Nature Publishing Group, Washington, DC.

8:05 AM The development of a high quality genetics concept inventory. A. Hott, HudsonAlpha Institute for Biotechnology, Huntsville, AL.

8:22 AM Genetic education for the future biotechnology workforce. N. E. Lamb, HudsonAlpha Institute for Biotechnology, Huntsville, AL.

8:40 AM HHMI: Science Education Alliance. T. C. Jordan, Howard Hughes Medical Institute, Chevy Chase, MD.

8:57 AM Nature Education, a new venture of Nature Publishing Group. K. M. Shaw, Nature Publishing Group, Washington, DC.

9:15 AM Questions and answers. A. Hott, HudsonAlpha Institute for Biotechnology, Huntsville, AL.

Sponsored by Roche Applied Science

Wednesday, November 12

10:00 AM–11:30 AM

Concurrent Education and Social Issues Sessions II (6-9)

SESSION 6 – Using the UCSC Genome Browser and Galaxy Toolkit

Room 204

Moderator: David Haussler, University of California, Santa Cruz

This session is designed for genetics professionals who wish to learn how to use the UCSC Genome Browser and Galaxy toolkit from Penn State. The UCSC Browser provides a gateway into the human genome sequence and many annotations, including gene predictions, gene expression, the ENCODE project, comparative genomics and sequence variation, including copy number and SNP data. The Galaxy toolkit provides extended functionality. This educational session will consist of demonstrations and hands-on how-to scenarios for attendees to experience the power of the browser firsthand. We will provide an overview of the browser, including basic functionality, new features, and examples of intersections between data sets using the Table Browser, plus Custom Tracks, a popular feature that allows users to display their own data together with rich browser annotation data, Genome Graphs for whole-genome association studies and the Rgenetics package from Galaxy at Penn State that exports to the UCSC Browser.

10:00 AM Introduction. D. Haussler, University of California, Santa Cruz.

10:05 AM The UCSC Genome Browser. R. M. Kuhn, University of California, Santa Cruz.

10:35 AM Galaxy: The large-scale analysis component for UCSC Browsers. A. Nekrutenko, Pennsylvania State University, University Park.

10:55 AM Genetic association analyses and visualization on-line: Galaxy, Rgenetics and the UCSC genome browser. R. Lazarus, BWH/Harvard Medical School, Boston, MA.

11:15 AM Questions and answers. D. Haussler, University of California, Santa Cruz.

Wednesday, November 12

10:00 AM–11:30 AM

Concurrent Education and Social Issues Sessions II (6-9)

SESSION 7 – Genetics Education by the News and Entertainment Media: Paradox or Paradigm?

Room 103

Co-Moderators: Cheryl Scacheri, Cleveland Clinic, Cleveland, OH; and Kristen Long, American Society of Human Genetics, Bethesda, MD

The mass media's reach exceeds that of any one scientist or even the scientific community as a whole, making it advantageous for genetics professionals to learn about the benefits and biases of different media outlet formats. Presenters in this session will describe how they have applied their genetics knowledge and personal experiences to documentary filmmaking, entertainment production consulting and science communication/media research. The speakers will discuss how context, purpose, level of knowledge and prior attitudes all influence the communication process, final outcome and perception by the reader or viewer. Our last speaker will give practical tips for improving interviewing skills. This skills training will include strategies for ensuring that complex messages are conveyed in a way that is relevant, newsworthy, accurate and accessible.

10:00 AM Introduction. C. Scacheri, Cleveland Clinic, Cleveland, OH.

10:05 AM "In the Family": The process of making a documentary film from concept to public education campaign. J. Rudnick, Kartemquin Films, Inc., Chicago, IL.

10:25 AM Human genetics in Hollywood: Adventures of a technical advisor for film and television productions. W. W. Grody, University of California, Los Angeles, School of Medicine.

10:45 AM The public's perception of genetic terminology in the news media. C. Condit, University of Georgia, Athens.

11:05 AM Making the most of interviews with health and science journalists. R. Lewis, Albany Medical Center, Scotia, NY.

11:25 AM Questions and answers. K. Long, The American Society of Human Genetics, Bethesda, MD.

Wednesday, November 12

10:00 AM–11:30 AM

Concurrent Education and Social Issues Sessions II (6-9)

SESSION 8 – The Social, Ethical and Biomedical Implications of Ancestry Testing: Exploring New Terrain

Room 201

Moderator: Sandra S.-J. Lee, Stanford University, Palo Alto, CA

What is genetic ancestry and how does it relate to race and ethnicity? The development of increasingly cost effective genomic sequencing technologies and public interest in genetic ancestry has led to a dramatic flourishing of direct-to-consumer products and new approaches to biomedical research. In this session, panelists define the contours of this emerging landscape and explore the commercial, biomedical, social and ethical implications of this burgeoning category of genomic application. Panelists consider the following questions: What genetic ancestry information is available to consumers? How is genetic ancestry used in biomedical research? What implications do genetic approaches to ancestry have on social identity? What ethical and policy issues must be addressed in this changing landscape? Panelists provide perspectives from industry, medicine, cultural studies, and bioethics.

10:00 AM Introduction. S. S.-J. Lee, Stanford University, Palo Alto, CA.

10:05 AM New dimensions for direct-to-consumer genetic ancestry testing. J. Mountain, 23andMe, Inc., Mountain View, CA.

10:20 AM The genetic construction of indigeneity. K. Tallbear, University of California, Berkeley.

10:35 AM The importance of ancestry testing and genetics in biomedical research. E. Burchard, University of California, San Francisco, General Hospital.

10:50 AM Racing forward: The ethics of ancestry testing. S. S.-J. Lee, Stanford University, Palo Alto, CA.

11:05 AM Questions and answers. S. S.-J. Lee, Stanford University, Palo Alto, CA.

Wednesday, November 12

10:00 AM–11:30 AM

Concurrent Education and Social Issues Sessions II (6-9)

SESSION 9 – From Family History to Medical Records: Electronic Integration of Health Information

Room 113

Moderator: Gregory Downing, U.S. Department of Health and Human Services, Washington, DC

Information, from family history to specific medical records, must be accessible and coordinated to be most useful. Various tools have been in use and are emerging to allow consumers and healthcare providers store medical and health information. With potential and actual genomic information available, correlations and associations are possible. Therefore interoperability, ease of use, and accessibility are critical components in the modern healthcare system. We will explore the Surgeon General’s Family History Tool and its implications for consumer capture of family health history, issues critical to electronic medical records and regional health information organizations. We will examine opportunities and challenges related to the implications of the management of these health information technologies for society, and articulate some of the available solutions.

10:00 AM Introduction. G. Downing, U.S. Department of Health and Human Services, Washington, DC.

10:05 AM Establishing the electronic pathways to support personalized medicine. G. Downing, U.S. Department of Health and Human Services, Washington, DC.

10:20 AM Family history: The foundation for genomic medicine. A. E. Guttmacher, National Institutes of Health, Bethesda, MD.

10:35 AM Family history, PHRs and EHRs: Empowering patients and physicians to optimize health. M. Williams, Intermountain Health Care, Slat Lake City, UT.

10:50 AM Regional Health Information Organizations and the role for consumer voice in design of EHRS. W. Benz, Raising Special Kids, Phoenix, AZ.

11:05 AM Questions and answers. G. Downing, U.S. Department of Health and Human Services, Washington, DC.

Wednesday, November 12

10:00 AM–12:00 NOON

Invited Session

SESSION 10 – Organismal and Cellular Phenomics of Breast Cancer Susceptibility Genes

Ballroom B

Moderator: Charis Eng, Cleveland Clinic, Cleveland, OH

Inherited breast cancer syndromes are the most common heritable cancer syndromes. In the last few years, a tremendous body of multidisciplinarily-derived scientific knowledge has been garnered. Important common cellular phenotypes include DNA damage-response deficiencies and genomic instability resulting from differing mechanisms. This session will present recent data elucidating the DNA damage-response and genomic stability pathways and mechanisms germane to heritable breast cancers, such as hereditary breast-ovarian cancer syndrome (HBOC)/Fanconi anemia (BRCA1/2-FANC pathway), Cowden syndrome (PTEN) and Li-Fraumeni syndrome (TP53). Recent data on the role of the tumor microenvironment of breast carcinomas will also be presented in the context of DNA damage-response and genomic instability in hereditary vs sporadic breast carcinomas, especially as they relate to clinical outcome. Finally, how targeted therapies, now in clinical trials, can take advantage of deficiencies in DNA damage-response will be presented.

10:00 AM Introduction. C. Eng, Cleveland Clinic, Cleveland, OH.

10:05 AM Genetic and phenomic links of DNA repair-related genes and breast cancer susceptibility. N. Rahman, Institute of Cancer Research, Royal Marsden NHS Trust, London, United Kingdom.

10:30 AM Using budding yeast to identify modifiers of chromosome stability and of breast cancer risk. S. E. Plon, Baylor College of Medicine, Houston, TX.

10:55 AM Somatic role of p53 and genomic instability in breast carcinoma and tumor stroma: sporadic compared to hereditary cases and clinical outcome. C. Eng, Cleveland Clinic, Cleveland, OH.

11:15 AM Taking advantage of the mutants: Targeted therapeutics. W. El-Deiry, University of Pennsylvania, Philadelphia.

11:40 AM Questions and answers. C. Eng, Cleveland Clinic, Cleveland, OH.

Wednesday, November 12

1:00 PM–1:30 PM

SESSION 11 – Presidential Address: Principia Genetica: Our Future Science

Hall A

Aravinda Chakravarti
ASHG President
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine
Baltimore, MD

It is difficult to imagine a more exciting time in human genetics. The completion of the human and other genome sequences, extensive maps of genetic variation in single nucleotide polymorphisms (SNPs) and copy number variants (CNVs), and our evolving abilities to identify genomic function by perturbation analysis in cultured cells and model organisms mark the definitive status of a new and dynamic discipline of genomics that originated in the 1980's. Genomics is not simply technologies for producing voluminous genome-scale data, although it is that, but now the intellectual basis for understanding the genome as an organic whole. Consequently, human genetics has been altered forever: we no longer do genetics by "breeding" only, with all of its attendant difficulties in humans, but by "sequence" with all of its attendant advantages. This change is transforming human genetics into the premier genetic science for discovery in natural populations (us).

The enthusiastic flurry of gene discovery in human disease has prompted calls for a "personalized medicine". Genetics defines our uniqueness as individuals (and species) and so "individualized" medicine is inevitable. However, this reality cannot become routine or useful unless we can predict the phenotype of each of our unique genomes within which the vast majority of variation is rare and unique. First, we need to understand the origin of variation. Genetic variation is currently understood largely through population genetics but these patterns are thoroughly confounded with human history and demography. To gain an unbiased functional understanding we need to quantify the human mutation rate directly and how it is modulated. Second, progress in prediction will require not merely accumulating empirical facts but theoretical prediction of the functional content of any piece of DNA and the consequences of altering that sequence. These are difficult challenges to our field but absolutely worth undertaking.

The prediction of phenotype from genotype is still based on our expectations of the gene, based on deleterious mutation analysis in Mendelian diseases, as an inflexible molecular machine with deterministic outcomes. However, much of contemporary molecular genetic data is leaning toward the radical view of the gene as an extremely dynamic molecular machine that adapts to epigenetic imprints, environmental changes and systems "noise" and leads to stochastic outcomes. If true, not only will it create a fundamentally new science and theory of human genetics but it will alter society's views of the consequences of genetics as well.

Wednesday, November 12

1:30 PM–3:30 PM

SESSION 12 – Plenary Session

Hall A

Co-Moderators: Aravinda Chakravarti, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD; and Michael Lovett, Washington University School of Medicine, St. Louis, MO

1/1:30 Mutations in TRIP11 cause neonatal lethal skeletal dysplasias in humans and mice. P. Smits, A. Bolton, V. Funari, L. Lei, M. Hong, B. Merriman, S. Nelson, D. Krakow, D. H. Cohn, T. Kirchhausen, M. L. Warman, D. R. Beier.

2/1:50 Segmental copy number variation shapes tissue transcriptomes. A. Reymond, C. N. Henrichsen, N. Vinckenbosch, S. Zollner, E. Chaignat, S. Pradervand, M. Ruedi, H. Kaessmann.

3†/2:10 An Imprinting Map of the Human Genome. A. J. Sharp, H. Holster, E. Kriventseva, U. Surti, L. Iniguez, S. E. Antonarakis.

4/2:30 Public Attitudes about Large Cohort Genetic Research. D. Kaufman, J. Murphy, K. Hudson, J. Scott.

5/2:50 Cytogenetic studies of meiotic recombination in human females. T. Hassold, T. Naluai-Cecchini, S. Cherry, T. Hansen, K. W. Broman, E. Cheng.

6/3:10 Induction of PGC-1a expression in Huntington disease transgenic mice rescues neuronal dysfunction and neurodegeneration. T. Tsunemi, J. Au, A. R. La Spada.

† Student Award Finalist

Wednesday, November 12

3:30 PM–4:30 PM

SESSION 13 – Special Plenary Session: The Hardy-Weinberg Law Centenary

Hall A

Moderator: Bruce S. Weir, University of Washington, Seattle

In 1908 Hardy and Weinberg published separate demonstrations that genotype frequencies could be expressed as products of allele frequencies under conditions such as random mating. This result, now known as the Hardy-Weinberg law, is the cornerstone of population genetics. All human geneticists have met the Hardy-Weinberg Law in genetics courses, and most have applied the law to their data. We will trace the history of the law as it has been used by each side in the selectionist-neutralist debate, by proponents and opponents of DNA testing in forensic science, and for data-cleaning in current whole-genome scans. Various approaches to testing the law in sample data will be described. Despite the law being 100 years old and attention given to statistical issues we still need caution in interpreting the results of statistical analyses.

3:30 PM Introduction. B. S. Weir, University of Washington, Seattle.

3:30 PM A history of the Hardy-Weinberg law. A. Chakravarti, McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD.

3:50 PM Testing the Hardy-Weinberg law. E. A. Thompson, University of Washington, Seattle.

4:10 PM Have you asked Dr. Hardy Weinberg? B. S. Weir, University of Washington, Seattle.

4:30 PM Questions and answers.

Wednesday, November 12

8:00 PM–10:00 PM

SESSION 14 – ASHG Trainee Program: Career Development and Networking Session

Ballroom B

The program is for graduate students and post-doctoral fellows and is organized by the Professional Development Committee. ASHG trainees interested in an event designed to broaden their knowledge regarding rewarding careers ranging from laboratory research to patent law should attend.

This year, we will have two concurrent plenary sessions, one focused on students, the other on post-docs. Steve Wendell, University of Pittsburgh, will speak to students about Career Opportunities and Corie Lok, Nature Networks, will speak to post-docs about online networking. Finally, a networking session will be open to all participants to discuss a variety of careers including biotechnology, patent law, clinical diagnostic, academic research, policy, journalism, education, public health, and science writing.

The event is limited to 250 attendees and requires a separate complimentary registration in addition to your ASHG meeting registration. The link is available on the registration confirmation page of your meeting registration. If you have registered for the annual meeting and need to register for this event, please do so at http://www.ashg.org/cgi-bin/2008/trainee/careereventm.pl

Separate complimentary registration required. You must register in advance before September 19

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 15 – Genomics I

Hall A

Co-Moderators: Kimberly A. Chapman, Children's Hospital of Philadelphia, PA; and John V. Moran, University of Michigan, Ann Arbor

7/8:00 Massive parallel bisulfite sequencing of CG-rich DNA fragments. M. Zeschnigk, M. Martin, G. Betzl, S. Gross, K. Buiting, B. Frey, S. Rahmann, B. Horsthemke.

8/8:15 Digital allelotyping revealed tissue specific and allele specific gene expression in human. K. Zhang, J. Li, Y. Gao, B. Xie, J. Deng, D. Egli, E. Leproust, K. Eggan, G. Church.

9/8:30 A High-density Haplotype Resource of 94 Inbred Mouse Strains. E. Kostem, H. M. Kang, A. Kirby, C. Wade, B. Han, M. Bogue, F. Johnson, K. Frazer, E. Beilharz, D. Cox, E. Eskin, M. Daly.

10/8:45 Sign, Sign, Everywhere a Sign: High Density Haplotype Maps of the Dog, Human, and Cow Genomes Reveal Extensive Human Reorganization of Domesticated Genomes. C. D. Bustamante, R. K. Wayne, M. Nordborg, M. R. Nelson, M. Cargill, R. A. Gibbs, E. A. Ostrander.

11/9:00 Systematic resequencing of the coding exons of the X chromosome in X-linked Mental Retardation. M. Stratton.

12/9:15 ClinSeq: A pilot for the development of high-throughput genomic sequencing as a tool for translational genomics. L. Biesecker, F. Facio, J. Teer, R. Cannon, T. Finkel, A. Remaley, G. Bouffard, J. Mullikin, J. Shendure, E. Green, NISC Comparative Sequencing Group.

13/9:30 Hybrid capture and deep resequencing of stromally contaminated lung adenocarcinoma. K. Cibulskis, C. Sougnez, J. Maguire, S. Fisher, L. Ambrogio, M. Meyerson, E. Lander, S. Gabriel.

14/9:45 An integrative genomics approach to biomarker discovery in breast cancer. C. Hicks, R. Asfour, L. Miele.

15/10:00 Diversity profile of the human skin microbiome in health and disease. E. A. Grice, H. H. Kong, S. P. Conlan, A. C. Young, N. I. S. C. Comparative Sequencing Program, G. G. Bouffard, R. W. Blakesley, M. L. Turner, J. A. Segre.

16/10:15 Mitochondrial Sequence Variation has a Major Influence on the Human Transcriptome. J. E. Curran, M. P. Johnson, J. Charlesworth, T. D. Dyer, H. H. H. Göring, E. K. Moses, J. Blangero.

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 16 – Neuropsychiatric Disorders and Neurodevelopment

Ballroom A

Co-Moderators: John Blangero, Southwestern Foundation for Biomedical Research, San Antonio, TX; and Veronica J. Vieland, The Research Institute at Nationwide Children's Hospital, Columbia, OH

17/8:00 Genomewide association study of schizophrenia in European ancestry and African American samples. J. Shi, D. F. Levinson, A. R. Sanders, J. Duan, F. Dudbridge, I. Pe'er, P. Holmans, S. L. Bray, S. Gusev, B. J. Mowry, R. Freedman, A. Olincey, F. Amin, C. R. Cloninger, J. M. Silverman, N. G. Buccola, W. F. Byerley, D. W. Black, P. V. Gejman.

18/8:15 Strong evidence of epistatic interactions involving NOS1AP in schizophrenia. L. M. Brzustowicz, Y. Huang, V. Saviouk, A. S. Bassett, V. J. Vieland.

19/8:30 Expression profiling of cultured neuronal cells from nasal neuroepithelium reveals involvement of synaptic long-term potentiation and glutamate receptor signaling pathways in schizophrenia. O. Evgrafov, X. Kang, B. Wrobel, G. Simpson, D. Malaspina, J. A. Knowles.

20/8:45 Genome-wide association and meta-analysis for bipolar disorder in European ancestry samples. L. J. Scott, P. Muglia, W. Guan, R. Upmanyu, M. Flickenger, X. Kong, F. Tozzi, J. Li, M. Burmeister, D. Absher, R. C. Thompson, F. Meng, A. Farmer, J. Vincent, A. D. Roses, R. M. Myers, D. Burns, M. Boehnke, GSK R&D and the Pritzker Neuropsychiatric Disorders Research Consortium & Site Directors.

21/9:00 Runs of Homozygosity Suggest a Role for Rare, High-Risk, Recessive Alleles in Bipolar Disorder. F. J. McMahon, C. J. M. Steele, N. Akula for the BiGS Consortium.

22/9:15 Interacting variants in the nicotinic receptor subunit genes influence nicotine dependence risk. N. L. Saccone, S. F. Saccone, A. L. Hinrichs, J. A. Stitzel, W. Duan, M. L. Pergadia, A. Agrawal, N. Breslau, R. A. Grucza, D. Hatsukami, E. O. Johnson, P. A. F. Madden, G. E. Swan, J. C. Wang, A. M. Goate, J. P. Rice, L. J. Bierut.

23/9:30 1M SNP genome wide association for addiction: replicated results and comparisons of two analytic approaches. G. Uhl, T. Drgon, C. Johnson, D. Walther, P.-W. Zhang, C.-Y. Li, J. Hess, Q.-R. Liu.

24/9:45 Animal models for functional evaluation of genes in autism spectrum disorders. J. Buxbaum, N. Dorr, G. Elder, A. McInnes, M. Gama Sosa, T. Sakurai.

25/10:00 Fragile X Mental Retardation Protein Regulates Adult Neurogenesis. G. Shan, Y. Luo, R. Smrt, X. Li, R. Duan, B. Barkho, W. Li, X. Zhao, P. Jin.

26†/10:15 Mutations in DMXL1 gene gives rise to a PWS-like phenotype. K. Gokhale, B. Kulkarni, E. L. H. Chin, M. Adam, S. T. Warren, M. Hegde.

† Student Award Finalist

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 17 – Ciliopathies

Ballroom B

Co-Moderators: Elise Héon, Hospital for Sick Children, Ontario, Canada; and Melissa A. Parisi, University of Washington, Seattle

27/8:00 Establishment of the pathogenic potential of nonsynonymous variants informs causal relationships in oligogenic disease. N. Zaghloul, J. Gerdes, J. Binkley, Y. Bromberg, Y. Liu, L. Davey, C. Leitch, R. Karchin, R. Leibel, A. Sidow, N. Katsanis.

28/8:15 Type II chaperonin BBS genes, BBS6 and BBS12, are required for BBSome formation. Q. Zhang, S. Seo, V. Sheffield.

29†/8:30 Requirement of Bardet-Biedl Syndrome Proteins for Leptin Receptor Signaling. S. Seo, D.-F. Guo, K. Bugge, D. A. Morgan, K. Rahmouni, V. C. Sheffield.

30/8:45 PCM1 is recruited to the centrosome by the cooperative action of DISC1 and BBS4 and is mutated in schizophrenia. N. Katsanis, A. Kamyia, P. L. Tan, K. Kubo, C. Engelhard, K. Ishizuka, A. Kubo, S. Tsukita, A. E. Pulver, K. Nakajima, N. G. Cascella, A. Sawa.

31/9:00 Fifth gene behind MKS adds more information to the ciliopathy puzzle. J. Tallila, E. Jakkula, M. Gentile, L. Peltonen, R. Salonen, M. Kestilä.

32/9:15 The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body. D. Doherty, N. Gorden, H. Arts, M. Parisi, S. van Beersum, A. Hikida, A. Alswaid, H. Ozyurek, E. Otto, C. Hutter, F. Farin, M. Dorschner, N. Katsanis, K. Owens, D. Raible, N. Knoers, P. Chance, R. Roepman, C. Moens, I. Glass.

33/9:30 Hypomorphic Mutations in Meckelin (MKS3/TMEM67) Cause Nephronophthisis with Liver Fibrosis. E. Otto, K. Tory, M. Attanasio, Y. Paruchuri, E. Wise, B. Utsch, M. Wolf, C. Becker, G. Nuernberg, P. Nuernberg, A. Nayir, S. Saunier, C. Antignac, F. Hildebrandt.

34/9:45 Ofd1 limb mesenchymal inactivation results in abnormal anteroposterior patterning and shortening of long bones. S. Bimonte, L. Quagliata, R. Tammaro, M.-G. Ascenzi, B. Franco.

35/10:00 Congenital Hepatic Fibrosis: A common feature in various ciliopathies. L. Lukose, T. Heller, M. Parisi, P. Choyke, K. Daryanani, B. Turkbey, J. Bryant, G. Golas, K. O'Brien, A. Garcia, D. Adams, L. Guay-Woodford, P. Mohan, W. A. Gahl, M. Gunay-Aygun.

36/10:15 Characterization of an ENU-induced mutant mouse uncovers a novel gene, Thm1 (Ttc21b), important for Sonic hedgehog (SHH) signaling and cilial function. P. V. Tran, T. Y. Besschetnova, J. V. Shah, D. R. Beier.

† Student Award Finalist

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 18 – Cytogenetics

Room 103

Co-Moderators: Christa Lese Martin, Emory University, Atlanta, GA; and Michael R. Speicher, Medical University of Graz, Austria

37/8:00 Replication stress induces submicroscopic copy number changes in normal human cells. M. F. Arlt, J. G. Mulle, V. M. Schaibley, S. T. Warren, T. W. Glover.

38/8:15 Genome-wide array diagnostics by high resolution BAC array CGH and 250k SNP array analysis in 1,300 patients with mental retardation. N. de Leeuw, R. Pfundt, J. Hehir-Kwa, A. Simons, D. Koolen, I. Neefs, N. Leijsten, T. Machielsen, B. van Bon, H. Yntema, W. Nillesen, T. Kleefstra, J. Veltman, B. de Vries, D. Smeets.

39/8:30 SNP arrays in the cytogenomics lab: Telling us things we didn’t know. B. D. Thiel, L. K. Conlin, D. Dipatri, X. Gai, M. Xie, J. C. Perin, T. H. Shaikh, P. White, J. Glessner, C. Kim, L. M. Medne, C. Bonnemann, L. Campbell, D. Clark, I. D. Krantz, H. Hakonarson, N. B. Spinner.

40/8:45 Identification of cytogenetic abnormalities in prenatal specimens by high-resolution microarray. L. G. Shaffer, S. Alliman, J. Coppinger, B. A. Bejjani, B. A. Torchia.

41/9:00 High-resolution analysis of subtelomeric breakpoints. J. Jackson, K. Rudd.

42/9:15 De novo copy number variations in children with sudden infant death. G. A. Toruner, R. Kurvathi, R. Sugalski, L. Shulman, S. Twersky, P. Goldblatt Pearson, R. Tozzi, M. Schwalb, R. Wallerstein.

43/9:30 Artemis cleaves cruciform-forming palindromic DNA leading to recurrent translocation in humans. H. Inagaki, T. Ohye, H. Kogo, T. Kato, M. Tong, M. Tsutsumi, B. S. Emanuel, H. Kurahashi.

44/9:45 Excess of X-chromosome copy number changes by microarray in women with skewed X-inactivation. D. Warburton, V. Jobanputra, J. Kline, B. Levin, A. Kinney, O. Nahum, C.-Y. Yu, B. Levy.

45/10:00 Pairing of homologous chromosome regions correlates with the frequency of mitotic recombination. I. Tereshchenko, L. Serrano, Y. Chang, N. Goldsmith, S. Buyske, C. Ayala, C. Shao, J. Tischfield.

46/10:15 SMS and PTLS mouse models to study effects of genome structural changes on expression. G. N. S. Ricard, J. Chrast, N. Gheldof, J. Molina, S. Pradervand, J. R. Lupski, K. Walz, A. Reymond.

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 19 – Clinical Genetics I

Room 113

Co-Moderators: A. Micheil Innes, University of Calgary, Alberta, Canada; and Patricia G. Wheeler, Nemours Children's Clinic, Orlando, FL

47/8:00 Recurrent 15q13 microdeletion CNV: a susceptibility locus for autism, mental retardation, and psychiatric abnormalities. S. Ben-Shachar, B. Lanpher, J. R. German, M. Shinawi, C. W. Cheung, J. R. Lupski, A. L. Beaudet, T. Sahoo.

48/8:15 Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. D. Miller, Y. Shen, L. Weiss, G. Cox, D. Harris, R. Hundley, R. Nasir, A. Reinhard, M. Sobeih, J. Stoler, W.-H. Tan, J. Gusella, M. Daly, B.-L. Wu.

49/8:30 Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene: a "contre-type" of Fragile X syndrome? M. Rio, V. Malan, A. Toutain, J. M. Lapierre, S. Gobin, G. Royer, J. P. Bonnefont, A. Munnich, M. Vekemans, L. Colleaux.

50/8:45 Maternal uniparental disomy 14 spectrum and differential diagnosis of Prader-Willi syndrome. S. Saitoh, K. Hosoki, M. Kagami, T. Ogata.

51†/9:00 Recurrent 1q21.1 microdeletions associated with variable disease phenotypes. H. Mefford, A. Sharp, B. Conrad, T. Walsh, S. E. Antonarakis, C. Chen, G. Gimelli, S. Schwartz, J. Sutcliffe, S. Knight, J. Sebat, C. Romano, C. Schwartz, J. Veltman, B. de Vries, J. Vermeesch, J. Barber, L. Willatt, M. Tassabehji, E. Eichler, The 1q21.1 Deletion Consortium.

52/9:15 TUBA1A mutations are a rare cause of posterior predominant lissencephaly that resembles the LIS1-associated pattern. R. A. Kumar, R. J. Harvey, T. D. Babatz, W. B. Dobyns.

53/9:30 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. L. Potocki, J. V. Thakuria, G. F. Cox, X. Wang, W. Bi, M. S. Bray, S. W. Cheung, A. C. Chinault, B. A. Boggs, J. R. Lupski, P. Stankiewicz, J. A. Towbin, I. Hansmann, S. Sood, T. Ai, A. Pursley, X. H. Wehrens, J. F. Martin, J. W. Belmont, S. R. Lalani.

54/9:45 Expanding the Clinical and Molecular Spectrum of Timothy Syndrome. T. A. Maher, G. Zhou, J. M. Milunsky.

55/10:00 Sudden and premature death in adults with 22q11.2 Deletion Syndrome. A. S. Bassett, E. W. C. Chow, J. Husted, K. A. Hodgkinson, E. Oechslin, L. Harris, C. Silversides.

56/10:15 Creld1 mutations increase susceptibility to congenital heart defects in Down syndrome. S. M. Cherry, G. T. Fouad, C. L. Maslen, R. H. Reeves.

† Student Award Finalist

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 20 – Statistical Genetics I

Room 201

Co-Moderators: Hemant K.Tiwari, University of Alabama at Birmingham; and Nancy L. Saccone, Washington University, St. Louis, MO

57/8:00 Differential Bias in Genotype Calls between Plates due to the Effect of a Small Number of Lower DNA Quality and/or Contaminated Samples. A. Pluzhnikov, J. E. Below, A. Tikhomirov, A. Konkashbaev, S. Roe, D. Nicolae, N. J. Cox.

58/8:15 Association testing with principal-components-based correction for population stratification. M. Abney, M. S. McPeek.

59/8:30 Modeling ancestry in structured populations using spectral analysis. K. Roeder, A. Lee, D. Luca.

60/8:45 Selecting SNPs to Correctly Predict Ethnicity. J. N. Sampson, K. K. Kidd, J. R. Kidd, H. Zhao.

61/9:00 Fast and Robust Association Tests for Untyped SNPs in Case-Control Studies. M. P. Epstein, A. S. Allen, S. Griffiths, F. Dudbridge, G. A. Satten.

62/9:15 A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. B. N. Howie, P. Donnelly, J. Marchini.

63/9:30 A Comprehensive Evaluation of SNP Genotype Imputation. D. Ellinghaus, M. Nothnagel, S. Schreiber, M. Krawczak, A. Franke.

64/9:45 Genotype imputation accuracy across worldwide human populations. L. Huang, L. Yun, A. B. Singleton, J. A. Hardy, G. Abecasis, N. A. Rosenberg, P. Scheet.

65/10:00 Meta-analysis of genetic association studies and adjustment for multiple testing when SNPs or traits are correlated. K. N. Conneely, M. Boehnke.

66/10:15 The Allelic Architecture of Common Diseases and Its Consequences. C. C. A. Spencer, E. Hechter, P. Donnelly.

Thursday, November 13

8:00 AM–10:30 AM

Concurrent Platform Sessions I (15-21)

SESSION 21 – Cardiovascular Genetics and Blood Biomarkers

Room 204

Co-Moderators: Ruth McPherson, University of Ottawa, Ontario; and Sekar Kathiresan, Massachusetts General Hospital, Boston

67/8:00 Genomewide associations with 10 nuclear magnetic resonance (NMR) subfractions of LDL, VLDL, and HDL among 12,000 Caucasian women from the WGHS. D. Chasman, S. Mora, G. Paré, R. Zee, A. Parker, J. Miletich, P. Ridker.

68/8:15 Major loci determining lipid levels and coronary heart disease risk in 16 population-based European cohorts. S. Ripatti, Y. Aulchenko, I. Lindqvist, C. M. van Duijn, L. Peltonen for the ENGAGE Consortium.

69/8:30 Common DNA sequence variants at thirty loci contribute to polygenic dyslipidemia. S. Kathiresan, C. Willer, G. Peloso, S. Demissie, LOLILOP, SUVIMAX, InCHIANTI, DGI, FUSION, SardiNIA, Rosetta, ISIS, METSIM, FINRISK, MDC, and FHS.

70/8:45 Gene variants associated with coronary artery disease presenting as sudden death. K. L. Hamilton, E. Rampersaud, D. Gamal el-Iman, R. Faugue, E. K. Mont, N. Yeboah, R. J. Myerburg, E. Martin, N. H. Bishopric.

71/9:00 Coronary Artery Disease Risk Locus at 9p21.3 Alters ANRIL Expression and Modulates Cell Proliferation Pathways. O. Jarinova, A. Stewart, P. Lau, T. Naing, R. Roberts, G. Wells, C. Buerki, B. McLean, R. Cook, J. Parker, R. McPherson.

72/9:15 Variation in the 4q25 Chromosomal Locus Predicts New-onset Atrial Fibrillation after Cardiac Surgery. S. C. Body, C. D. Collard, S. K. Shernan, A. A. Fox, K.-Y. Liu, M. D. Ritchie, T. E. Perry, J. D. Muehlschlegel, B. S. Donahue, M. Pretorius, P. T. Ellinor, C. Newton-Cheh, C. E. Seidman, J. G. Seidman, D. S. Herman, P. Lichtner, T. Meitinger, N. J. Brown, D. M. Roden, D. Darbar.

73/9:30 Common variants in STK39 are associated with blood pressure levels. Y. Chang, Y. Wang, J. O'Connell, P. McArdle, J. Wade, S. Dorff, S. Shah, X. Shi, L. Pan, E. Rampersaud, H. Shen, J. Kim, A. Subramanya, N. Steinle, P. Welling, C. Ober, A. Weder, A. Chakravarti, B. Mitchell, A. Shuldiner.

74/9:45 Medical sequencing of 11 hypertension genes in the extremes of the blood pressure distribution. K. H. Nguyen, G. B. Ehret, A. Chakravarti.

75/10:00 Genome-wide association scan for serum bilirubin levels in a Sardinian cohort. M. Uda, S. Sanna, F. Busonero, M. G. Piras, G. Usala, A. Maschio, A. Mulas, M. Dei, S. Lai, N. Sestu, S. Naitza, L. Crisponi, M. Masala, G. Cuccuru, M. Marongiu, L. Perseu, R. Galanello, G. R. Abecasis, S. Schlessinger, A. Cao.

76/10:15 Genome-wide meta-analyses of haematological traits reveal several novel loci associated with full blood counts. N. Soranzo, C. Meisinger, N. Watkins, A. Attwood, P. Deloukas, A. Döring, M. Falchi, C. Gieger, T. Illig, J. Jolley, S. Menzel, W. H. Ouwehand, H. Prokisch, A. Rankin, D. Rosskopf, T. D. Spector, J. Stephens, S. L. Thein, E. Wichmann.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 22 – Non-coding RNA: Red-headed Stepchild of the Human Genome

Ballroom A

Co-Moderators: Peng Jin, Emory University, Atlanta, GA; and Alexander Pertsemlidis, University of Texas Southwestern Medical Center, Dallas

Non-coding RNAs have been recently found in surprising abundance, with novel classes and unanticipated functions discovered on a regular basis. To date, ncRNAs have been shown to play roles in mediating antiviral responses, transcriptional regulation (both activation and suppression), chromatin remodeling, genomic stability (piRNA), organizing chromosomal domains, restraining the spread of selfish genetic elements, and evolution. The main objective of this session is to review the most recent advances in this fast-moving field and to provide a thought-provoking forum in which the role of non-coding RNAs in human genetics will be explored.

11:00 AM Introduction. A. Pertsemlidis, University of Texas Southwestern Medical Center, Dallas.

11:05 AM piRNAs: Features and functions. H. Lin, Yale University School of Medicine, New Haven, CT.

11:30 AM Small-RNA-mediated gene activation. D. R. Corey, University of Texas Southwestern Medical Center, Dallas.

11:55 AM Bi-directional transcription is operative in RNA-mediated transcriptional gene activation and suppression in human cells. K. V. Morris, The Scripps Research Institute, La Jolla, CA.

12:20 PM A rapidly evolved RNA gene may have played a role in the evolution of the cerebral cortex. D. Haussler, University of California, Santa Cruz.

12:45 PM Questions and answers. P. Jin, Emory University, Atlanta, GA.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 23 – Double the Trouble: Bidirectional Expression of Triplet Expansion Mutations in DM1, SCA8, FXTAS, and HDL2

Room 103

Co-Moderators: Laura P. W. Ranum, University of Minnesota, Minneapolis; and Stephen Tapscott, Fred Hutchinson Cancer Research Center, Seattle, WA

It has recently become apparent that a growing number microsatellite expansion mutations are bidirectionally expressed and that these previously unrecognized mutant genes have diverse effects. For example, Stephen Tapscott and colleagues recently showed that transcription at the DM1 locus occurs in both directions and that the newly recognized CAG transcripts are processed into 21 nt fragments associated with chromatin methylation. Additionally, Laura Ranum and colleagues showed that in addition to the previously reported CUG transcripts, SCA8 CAG transcripts expressed in the opposite direction encode a nearly pure polyglutamine protein. Further evidence that triplet expansions are often expressed in both directions has become quite clear from additional studies demonstrating that this also occurs in SCA7, FXTAS, and HDL2. The growing recognition that bidirectional expression is common in the genome suggests that examining the potential consequences of bidirectional expression across a wide variety of mutant loci may be important in fully understanding pathogenic mechanisms of disease.

11:00 AM Introduction. L. P. Ranum, University of Minnesota, Minneapolis.

11:05 AM Bidirectional transcription at triplet repeat loci: DM1 and FMR1. S. Tapscott, Fred Hutchinson Cancer Research Center, Seattle, WA.

11:28 AM SCA8: Bidirectional expression of CUG and CAG expansion transcripts and evidence for RNA and protein effects. L. P. Ranum, University of Minnesota, Minneapolis.

11:51 AM Studies of SCA7 link CTCF with anti-sense non-coding RNA expression and ataxin-7 transcription. A. La Spada, University of Washington, Seattle.

12:14 PM Does bidirectional transcription contribute to the similarities between Huntington disease and Huntington disease-like 2? R. L. Margolis, Johns Hopkins University School of Medicine, Baltimore, MD.

12:37 PM Pathogenic mechanisms illuminated by a BAC transgenic mouse model of Huntington disease-like 2. X. Yang, David Geffen School of Medicine at University of California, Los Angeles.

1:00 PM Questions and answers.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 24 – Novel Insights into Telomere Structure and Function

Ballroom B

Co-Moderators: Catherine E. Keegan, University of Michigan, Ann Arbor; and John V. Moran, University of Michigan, Ann Arbor

Telomeres are specialized structures that cap eukaryotic chromosome ends. The telomere cap protects chromosome ends from the DNA repair machinery and regulates telomerase access to the 3’ ends of the chromosomes. These functions are mediated by a complex of proteins termed shelterin. Human telomeres shorten progressively with each cell division until telomere length reaches a critical threshold, leading to replicative senescence. Loss of the protective telomere cap due to critical telomere shortening or disruption of shelterin leads to telomere dysfunction, resulting in chromosome fusions and genomic instability. In this session, the speakers will review components of the telomere cap complex and their relationship to human disease, including cancer and aging. The speakers will also discuss novel relationships between telomeric proteins and telomerase, novel functions of telomerase in stem cell activation, and similarities between telomere and retrotransposon biology.

11:00 AM Introduction.

11:00 AM How telomeres protect chromosome ends. T. de Lange, Rockefeller University, New York, NY.

11:25 AM Structure and function of the telomere cap complex. M. Lei, University of Michigan, Ann Arbor.

11:45 AM Telomerase and stem cell activation. S. Artandi, Stanford University School of Medicine, Stanford, CA.

12:05 PM Telomere dysfunction, genomic instability and cancer. S. Chang, M. D. Anderson Cancer Center, Houston, TX.

12:25 PM Endonuclease-independent LINE-1 retrotransposition at dysfunctional telomeres. J. V. Moran, University of Michigan, Ann Arbor.

12:50 PM Questions and answers. C. E. Keegan, University of Michigan, Ann Arbor.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 25 – Statistical Methods for Genome-wide Association Studies

Hall A

Co-Moderators: Duncan Thomas, University of Southern California, Los Angeles; and Mike Boehnke, University of Michigan, Ann Arbor

The ability to examine genetic variation at an unprecedented level of detail in a great number of individuals has enabled genome-wide association studies. While these genome-wide association studies provide a powerful tool for the identification of complex disease genes, they also pose many methodological challenges. With the availability of affordable resequencing on a genomic scale, these challenges and opportunities are likely to increase in complexity in the next few years. We discuss state of the art methodology for these large scale studies and complement these theoretical presentations with actual examples of the design, implementation and analysis of genome-wide association studies.

11:00 AM Introduction.

11:00 AM Statistical methods for genotype calling and copy number variant analysis. N. Cox, University of Chicago, IL.

11:20 AM Bayesian multi-SNP analyses for genome-wide association studies. M. Stephens, University of Chicago, IL.

11:40 AM Family samples into genome-wide association and taking advantage of sample relatedness in genome-wide association and resequencing studies. G. R. Abecasis, University of Michigan, Ann Arbor.

12:00 NOON Computationally efficient logistic regression-based association testing. K. Lange, University of California, Los Angeles.

12:20 PM Haplotype analysis and searching for untyped rare variants. P. Sham, University of Hong Kong.

12:40 PM Questions and answers. M. Boehnke, University of Michigan, Ann Arbor.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 26 – The Role of Autophagy in Cellular Homeostasis and Genetic Disease

Room 201

Co-Moderators: J. Paul Taylor, University of Pennsylvania, Philadelphia; and Albert R. La Spada, University of Washington, Seattle

Autophagy is an evolutionarily conserved process of self-digestion whereby the cell degrades macromolecules and organelles. The process of autophagy involves the formation of a double membrane bound structure (autophagosome) which engulfs macromolecules or organelles, culminating in fusion with a lysosome to degrade the enclosed contents. In addition to being a crucial starvation survival response, autophagy has been implicated in a variety of disease processes, ranging from neurogenetic proteinopathies to cancer to metabolic diseases. In this session, we will begin with an overview of the autophagy pathway, and then introduce the audience to the latest studies of the role of autophagy in cancer, neurodegenerative disease, protein turnover, and cell death.

11:00 AM Introduction. A. R. La Spada, University of Washington, Seattle.

11:10 AM Autophagic pathways: Molecular dissection and functional relevance. A. Cuervo, Albert Einstein College of Medicine, Bronx, NY.

11:30 AM Autophagy in the healthy and degenerating brain. R. Nixon, New York University Medical Center, New York, NY.

11:50 AM Genetic regulation of protein turnover: cross talk between autophagy and the ubiquitin-proteasome system. J. Taylor, University of Pennsylvania, Philadelphia.

12:10 PM Molecular genetics of autophagy and cell death. E. Baehrecke, University of Massachusetts Medical School, Worcester.

12:30 PM Autophagy: A pro- or anti-tumor pathway? B. Levine, University of Texas Southwestern Medical Center, Dallas.

12:50 PM Questions and answers. A. R. La Spada, University of Washington, Seattle.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 27 – Why Aren't We Extinct? Revisiting "Our Load of Mutations"

Room 204

Co-Moderators: Diddahally R. Govindaraju, Boston University School of Medicine, Boston, MA; and Shamil Sunyaev, Harvard Medical School, Boston, MA

All heritable variations are traced to mutational processes, yet our knowledge of their origins, maintenance and their manifold effects on fitness and phenotypic traits, including Mendelian and complex diseases, is sparse. Availability of rich and diverse data sets on genome architecture at the level of individual nucleotides, structural variants, genes and entire genomes and novel analytical techniques make it attractive to reevaluate the role of mutations and their health consequences at all levels of organization: among individuals within families, between families and across generations. These data will provide valuable insights on the influx of deleterious mutations, their population dynamics and spread in the human genome, as well as their effects on molecular function, fitness and human health. The four talks in this session will address the rate of accumulation of mutations, their functional aspects, and their health burden.

11:00 AM Introduction. D. R. Govindaraju, Boston University School of Medicine, Boston, MA.

11:05 AM Insights on the origin and the effect of mutations from the genome-wide sequence data. S. Sunyaev, Harvard Medical School, Boston, MA.

11:30 AM Constraints on variation and evolution in gene regulatory sequences in the human genome. J. Pritchard, University of Chicago, IL.

11:55 AM Spectrum of mutations in Mendelian and complex diseases. S. E. Antonarakis, University Hospitals of Geneva, Switzerland.

12:20 PM The mysterious missing mutation bias: Why doesn't fitness always go down? D. Houle, Florida State University, Tallahassee.

12:45 PM Questions and answers.

Thursday, November 13

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions I (22-28)

SESSION 28 – Innovative RNA Biology: A New Paradigm for the Treatment of Genetic Disorders

Room 113

Moderator: Gideon Dreyfuss, University of Pennsylvania School of Medicine, Philadelphia

RNA, long recognized as a key regulator and facilitator of gene expression, has entered a new phase in which research and development efforts are targeted to exploiting its properties as a therapeutic target as well as a tool for a wide variety of diseases. The panel will discuss these new trends in RNA biology, addressing novel approaches to treating genetic disorders that involve the manipulation of translation termination, mRNA untranslated regions, alternative splicing, and RNA interference.

11:00 AM Introduction. G. Dreyfuss, University of Pennsylvania School of Medicine, Philadelphia.

11:05 AM Overview of RNA disease targets and approaches to drug development. G. Dreyfuss, University of Pennsylvania School of Medicine, Philadelphia.

11:20 AM Novel methods of addressing intractable targets in genetic disorders. A. Jacobson, University of Massachusetts Medical School, Worcester.

11:35 AM Antisense strategy for splicing correction in spinal muscular atrophy. A. Krainer, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.

11:50 AM RNAi and dominant neurodegenerative diseases. B. Davidson, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City.

12:05 PM Questions and answers.

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 29 – Genomics II

Hall A

Co-Moderators: Dana C. Crawford, Vanderbilt University, Nashville, TN; and John W. Belmont, Baylor College of Medicine, Houston, TX

77/2:00 Active chromatin marks on ultraconserved non-coding elements. U. Choudhury, F. Parisi, F. Naef, S. E. Antonarakis.

78/2:15 High throughput approaches to fine mapping in regions of confirmed association. P. Deloukas on behalf of the Wellcome Trust Case Control Consortium.

79/2:30 Gene Expression Responses to Endoplasmic Reticulum (ER) Stress in Humans. R. S. Spielman, B. A. Dombroski, W. M. Ankener, K. A. Chapman, K. G. Ewens.

80/2:45 Sequencing human-gibbon breakpoints of synteny. L. Chen, S. Girirajan, T. Graves, T. Marques-Bonet, E. Mardis, E. E. Eichler.

81/3:00 Cross-species targeted DNA sequencing: New methods for exploring diversity and evolution. M. Lovett.

82/3:15 The diploid genome sequence of an Asian individual. J. Wang.

83/3:30 Inter-individual variation in retrotransposition-competent human LINE-1 content. C. R. Beck, P. Collier, C. Macfarlane, M. Malig, J. M. Kidd, E. E. Eichler, R. M. Badge, J. V. Moran.

84/3:45 The 1000 genomes project. D. Altshuler for the 1000 Genomes Project Consortium (www.1000genomes.org).

85/4:00 Improved Microarray-Based Genomic Selection (MGS) of Targeted Human Diploid and Haploid X-Chromosome Sequences for Next Generation Sequencing. D. Okou, K. Meltz-Steinberg, A. Locke, P. Atri, V. Patel, M. Zwick.

86/4:15 Rapid targeted sequencing of multiple human mitochondrial genomes. G. Ehret, M. Sosa, L. Li, P. Bouffard, K. Fredrikson, T. Harkins, A. Chakravarti.

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 30 – Neuropsychiatric and Neurodegenerative Disorders

Ballroom A

Co-Moderators: Alison M. Goate, Washington University School of Medicine, St. Louis, MO; and Simon G. Gregory, Duke University Medical Center, Durham, NC

87/2:00 Endophenotype-based approach identifies missense variant in Transferrin that influences Ab levels and risk for Alzheimer's disease. A. Goate, J. S. K. Kauwe, J. Wang, K. Mayo, J. C. Morris, A. M. Fagan, D. M. Holtzman.

88/2:15 Vitamin D receptor: a versatile genetic modifier for Alzheimer and Parkinson disease. K. Hara, L. Wang, G. Wang, G. Beecham, P. Gallins, P. Whitehead, M. Greg, M. Butler, K. Yu, E. Martin, J. Haines, J. Gilbert, J. Vance, M. A. Pericak-Vance.

89/2:30 Mutations in the glucocerebrosidase gene confer a five fold increased risk of developing Parkinson disease: Results of an international multi-center collaborative study. E. Sidransky, Multi-Center Collaborative Group Studying GBA Mutations in PD.

90/2:45 Genome-Wide Association Study in Parkinson’s Disease: Identification of Strong Associations with SNCA and MAPT. S. Scholz, C. Schulte, P. D. Genetics Consortium.

91/3:00 First neuronally expressed gene associated with multiple sclerosis. Y. S. Aulchenko, I. A. Hoppenbrouwers, S. V. Ramagopalan, L. Broer, N. Jafari, J. Hillert, J. Link, W. Lundström, E. Greiner, A. D. Sadovnick, D. Goossens, C. van Broeckhoven, J. del Favero, G. C. Ebers, B. A. Oostra, C. M. van Duijn, R. Q. Hintzen.

92/3:15 Drosophila NnaD mutant flies model Purkinje cell degeneration mouse phenotypes and suggest a role for Nna proteins in mitochondrial function and mitochondrial dynamics. R. Zahra, L. Chakrabarti, S. M. Jackson, L. J. Pallanck, A. R. La Spada.

93/3:30 Neuronal autophagy induction requires mTOR and protects against misfolded protein stress in inherited neurodegenerative disorders. J. E. Young, R. A. Martinez, A. R. La Spada.

94/3:45 Large-Scale Transcriptional Profiling and Genome-Wide Association of Intelligence in the Genetics of Brain Structure and Function Study. J. Charlesworth, J. E. Curran, M. Carless, M. P. Johnson, H. H. H. Göring, T. D. Dyer, L. Almasy, P. T. Fox, R. Duggirala, E. K. Moses, D. C. Glahn, J. Blangero.

95/4:00 Epigenetic changes in Friedreich ataxia are associated with altered CTCF binding in the FXN gene promoter. I. De Biase, P. Rindler, Y. Chutake, S. I. Bidichandani.

96/4:15 Identification of the mutated gene responsible for a new form of Recessive Spastic Ataxia with frequent Leukoencephalopathy (ARSAL) in the French-Canadian Population. I. Thiffault, M. Tetreault, V. Bayat, L. Loiselle, J. Mathieu, J. P. Bouchard, J. Lesage, H. J. Bellen, B. Brais.

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 31 – Diabetes and Obesity

Ballroom B

Co-Moderators: Stephen S. Rich, University of Virginia, Charlottesville; and Alan R. Shuldiner, University of Maryland School of Medicine, Baltimore

97/2:00 Follow up analysis of genome-wide association data and replication identifies novel loci for type 1 diabetes. S. F. A. Grant, H. Q. Qu, J. P. Bradfield, L. Marchand, M. Imielinski, C. E. Kim, J. T. Glessner, R. Grabs, S. P. Taback, E. C. Frackelton, K. Annaiah, M. L. Lawson, R. W. Grundmeier, C. A. Stanley, S. E. Kirsch, D. Waggott, A. D. Paterson, D. S. Monos, C. Polychronakos, H. Hakonarson.

98/2:15 Dissecting the genetic architecture of type 1 diabetes via genome-wide association of 16,783 individuals. J. C. Barrett, B. Akolkar, P. Concannon, H. A. Erlich, C. Julier, G. Morahan, J. Nerup, C. Nierras, F. Pociot, J. A. Todd, N. M. Walker, J. D. Cooper, D. J. Smyth, H. Schuilenburg, V. Plagnol, J. Allen, S. S. Rich, D. G. Clayton, The Type 1 Diabetes Genetics Consortium.

99/2:30 A novel susceptibility locus for type 1 diabetes maps to human chromosome 21q22.3. S. Onengut-Gumuscu, P. Concannon, J. A. Todd, D. J. Smyth, F. Pociot, R. Bergholdt, B. Akolkar, H. A. Erlich, J. E. Hilner, C. Julier, G. Morahan, J. Nerup, C. Nierras, W. M. Chen, S. S. Rich, Type 1 Diabetes Genetics Consortium.

100/2:45 Simultaneous scan of genome-wide association data allowing for epistasis prioritizes multiple interacting loci in type 2 diabetes. J. T. Bell, N. J. Timpson, N. W. Rayner, A. P. Morris, E. Zeggini, M. I. McCarthy, UK Type 2 Diabetes Consortium.

101/3:00 Genome-wide association study of 2,400 cases of three common diseases and 1,000 shared controls in Taiwan. C. H. Chen, J. Y. Wu, P. Chen, M. M. T. Lee, J. Y. Chen, S. F. Ho, H. W. Chen, C. L. Hsu, C. S. J. Fann, A. T. A. Cheng, W. H. Pan, Y. T. Chen.

102/3:15 Novel Association of HK1 with Glycated Hemoglobin in a Non-Diabetic Population: A Genome Wide Evaluation of 14,618 Participants in the Women’s Genome Health Study. G. Pare, D. Chasman, A. N. Parker, J. P. Miletich, R. Y. L. Zee, P. M. Ridker.

103/3:30 Mutations in ZFP57 are associated with hypomethylation of multiple imprinted loci in patients with Transient Neonatal Diabetes (TND1). I. K. Temple, J. Callaway, S. Marks, H. White, C. Acerini, S. Boonan, P. Dyanikli, H. Firth, J. Goodship, A. Haemers, J. Hahnemann, O. Kordonouri, A. Masoud, E. Oestergaard, J. Storr, S. Ellard, A. T. Hattersley, D. O. Robinson, D. J. G. Mackay.

104/3:45 Population genetics analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history. L. B. Scheinfeldt, S. Biswas, J. Madeoy, C. F. Connelly, E. E. Schadt, J. M. Akey.

105/4:00 Genome-wide association meta-analysis of >32,000 individuals and replication in >58,000 individuals identifies novel genetic variants associated with body mass index. C. J. Willer, E. K. Speliotes, R. J. F. Loos, S. Li, I. M. Heid, C. M. Lindgren, GIANT Consortium.

106/4:15 Genome-wide association study in 2,800 French identifies new susceptibility loci for extreme polygenic obesity. D. Meyre, J. Delplanque, S. Lobbens, S. Gallina, C. Lecoeur, S. Visvikis-Siest, B. Balkau, A. Walley, C. Dina, P. Froguel.

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 32 – Cancer Genetics

Room 103

Co-Moderators: Boris C. Pasche, Northwestern University, Feinberg School of Medicine, Chicago, IL; and Constance A. Griffin, Johns Hopkins University School of Medicine, Baltimore, MD

107/2:00 Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons of TACSTD1. M. J. L. Ligtenberg, R. P. Kuiper, T. L. Chan, M. Goossens, K. M. Hebeda, M. Voorendt, T. Y. H. Lee, D. Bodmer, E. Hoenselaar, H. G. Brunner, A. Geurts van Kessel, S. T. Yuen, J. H. J. M. van Krieken, S. Y. Leung, N. Hoogerbrugge.

108/2:15 Genome-wide Linkage Analysis of Colorectal Cancer in 302 Multiple-Case Families. E. L. Goode, B. L. Fridley, W. Bamlet, D. Serie, R. W. Haile, D. C. Thomas, S. N. Thibodeau, N. M. Lindor, J. D. Potter for the Colon CFR.

109/2:30 Concurrence of Muir-Torre and Turcot Variants of Hereditary Nonpolyposis Colorectal Cancer (HNPCC). C. A. Griffin, J. E. Axilbund, C. D. Gocke, A. Piurek, F. M. Giardiello, K. M. Murphy.

110/2:45 Common polymorphisms in candidate genes influence breast cancer phenotype and prognosis. D. Eccles, W. Tapper, V. Hammond, S. Gerty, P. Simmonds, A. Collins.

111/3:00 Underprovision of guideline-recommended advice regarding genetic risk assessment for hereditary breast and ovarian cancer among U. S. women. D. E. Levy, A. E. Shields, J. E. Garber.

112/3:15 Genetic ancestry and risk of breast cancer among US Latinas. L. Fejerman, E. M. John, S. Huntsman, K. Beckman, S. Choudhry, E. Perez-Stable, E. Gonzalez Burchard, E. Ziv.

113/3:30 Use of multiple ethnic groups to identify causal breast cancer risk variants in the FGFR2 and TNRC9 loci. M. Udler, S. Ahmed, M. Maranian, K. Gregory, K. A. Pooley, J. Tyrer, P. D. Pharoah, J. P. Struewing, R. Luben, C. A. Haiman, A. Wu, H. Anton-Culver, C. Y. Shen, D. Kang, A. Lindblom, B. A. J. Ponder, K. Malone, E. A. Ostrander, A. M. Dunning, D. F. Easton.

114/3:45 A GWAS identifies common variations in the BARD1 tumor suppressor gene predisposing to high-risk neuroblastoma. M. Capasso, M. Devoto, C. Hou, S. Asgharzadeh, E. Attiyeh, Y. Mosse, J. Bradfield, R. Scott, S. Diskin, J. Jagannathan, J. Glessner, C. Kim, W. London, R. Seeger, S. Grant, H. Li, N. Rahman, H. Hakonarson, J. Maris.

115/4:00 Missense mutations in PDE11A segregate with the disease in kindreds with testicular cancer. A. Horvath, L. Korde, R. Libe, P. Osorio, K. Tsang, Y. Patronas, L. Tschoukani, L. Drori-Herishanu, E. Remmers, J. Bertherat, M. Greene, C. Stratakis.

116/4:15 Protective effect of Glutathione S-Transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes. V. Chaudru, M. T. Lo, F. Lesueur, K. Laud, H. Mohamdi, C. Marian, M. Barrois, A. Chompret, M. F. Avril, F. Demenais, B. Bressac-de Paillerets.

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 33 – Metabolic Genetics

Room 113

Co-Moderators: Margretta R. Seashore, Yale University School of Medicine, New Haven, CT; and Marshall L. Summar, Vanderbilt University, Nashville, TN

117/2:00 Identification of the gene for the cblF defect of vitamin B12 metabolism reveals a novel lysosomal membrane protein with homology to lipocalin receptors. F. Rutsch, S. Gailus, I. Racine-Miousse, T. Suormala, C. Sagné, M. Toliat, G. Nürnberg, T. Wittkampf, I. Buers, A. Sharifi, M. Stucki, C. Becker, M. Baumgartner, H. Robenek, T. Marquardt, W. Höhne, B. Gasnier, D. S. Rosenblatt, B. Fowler, P. Nürnberg.

118†/2:15 Deletion of Tumor Necrosis Factor-alpha delays neurodegeneration in Sandhoff mice. H. Abou-Ouf, M. Melas, A. Fiebig, B. Trigatti, S. Igdoura.

119†/2:30 Dysregulation of nitric oxide synthesis from endogenous cellular arginine production underlies the complex phenotype in argininosuccinate lyase deficiency and supports metabolite channeling as basis of the “Arginine Paradox”. A. Erez, Y. Chen, N. Bryan, J. Marini, O. A. Shchelochkov, N. Brunetti-Pierri, W. O’Brien, W. Mitch, B. Lee.

120/2:45 Frequency of the Copy Number Variants Affecting the OTC Locus in Patients with OTC Deficiency. O. A. Shchelochkov, L. Y. Tang, A. Pursley, F. Li, M. Geraghty, U. Lichter-Konecki, P. M. Fernhoff, S. Copeand, T. Reimschisel, S. Cederbaum, B. Lee, A. C. Chinault, L. J. Wong.

121/3:00 Aberrant activation of Rho GTPases in Smith-Lemli-Opitz syndrome: Neurodevelopmental and clinical implications. X. Jiang, C. A. Wassif, L. Song, P. S. Backlund, A. L. Yergey, Z. Li, F. D. Porter.

122/3:15 Glycosylation Defects in Muscular Dystrophy. S. Sparks, A. Kesari, E. Hoffman.

123/3:30 Overloading of lipid rafts impairs SNAREs function leading to membrane traffic jam in lysosomal storage disorders. A. Fraldi, F. Annunziata, A. Lombardi, C. Spampanato, A. Fedele, A. Ballabio.

124/3:45 Alterations in gene expression in the MPS VII mouse brain. R. Rozen, D. Smirnov, E. Rappaport, Z. Zhang, E. Cabacungan, V. Cheung, J. H. Wolfe.

125/4:00 Knockout Models in Mice and Men Suggest a Proatherogenic Role for USF1. P. P. Laurila, K. J. Merikanto, J. Perttilä, J. Saharinen, M. Gentile, J. Naukkarinen, P. K. Laurila, A. Tuomainen, C. Ehnholm, V. M. Olkkonen, M. Jauhiainen, L. Peltonen.

126/4:15 TMEM70 is a novel factor of mitochondrial ATPase biogenesis and its mutations cause isolated enzyme deficiency and neonatal encephalo-cardiomyopathy. A. Čížková, V. Stránecký, J. A. Mayr, M. Tesařová, V. Havláčkoví, J. Paul, R. Ivánek, A. W. Kuss, H. Hansíková, V. Kaplanová, M. Vrbacký, H. Hartmannová, L. Nosková, T. Honzík, Z. Drahota, M. Magner, W. Sperl, J. Zeman, J. Houštěk, S. Kmoch.

† Student Award Finalist

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 34 – Statistical Genetics II

Room 201

Co-Moderators: Xihong Lin, Harvard School of Public Health, Boston, MA; and Michael P. Epstein, Emory University, Atlanta, GA

127/2:00 The inadequacy of the Bonferroni correction in genome-wide association studies. J. C. Wakefield.

128/2:15 A Powerful Gene-Based Association Test using Optimally Weighted Markers. M. Li, K. Wang, S. F. A. Grant, H. Harkonarson, C. Li.

129/2:30 New Haplotype Sharing Method for Genome-Wide Case-Control Association Studies Implicates Gene for Parkinson’s Disease. G. A. Satten, A. S. Allen.

130/2:45 Power of model selection methods for high dimensional genome-wide association data. Z. Wu, H. Zhao.

131/3:00 Identifying Gene X Gene Interactions for phenotypes in Genome-wide Association Studies. J. Wu, K. Roeder.

132/3:15 Extensions of Conditional Likelihood Bias Adjustment for Disease Association Risk Estimates in Whole-Genome Scans. F. Zou, A. Ghosh, F. A. Wright.

133/3:30 Unbiased estimation of odds ratios combining genomewide association scans with replication studies. F. Dudbridge, J. Bowden.

134/3:45 Towards Predicting Individual Risk for Age-related Macular Degeneration. K. Spencer, L. M. Olson, P. Gallins, W. K. Scott, N. Schnetz-Boutaud, A. Agarwal, E. A. Postel, M. A. Pericak-Vance, J. L. Haines.

135/4:00 Genome-wide association scans for secondary traits using case-control samples. G. M. Monsees, P. Kraft.

136/4:15 Proper Analysis of Secondary Phenotype Data in Case-Control Association Studies. D. Lin, D. Zeng.

Thursday, November 13

2:00 PM–4:30 PM

Concurrent Platform Sessions II (29-35)

SESSION 35 – Evolutionary and Population Genetics

Room 204

Co-Moderators: Sara A. Tishkoff, University of Pennsylvania, Philadelphia; and Noah A. Rosenberg, University of Michigan, Ann Arbor

137/2:00 Inference of human demographic parameters using haplotype patterns from genome-wide SNP data. K. E. Lohmueller, A. Auton, C. D. Bustamante, A. G. Clark.

138/2:15 Consanguineous matings, partial selective sweeps, and population-specific founder effects detected from patterns of homozygous tracts. A. R. Boyko, A. Auton, A. R. Indap, K. E. Lohmueller, A. G. Clark, C. D. Bustamante.

139/2:30 Socio-economic and spatial population structure in Northern Finland. C. Hoggart, L. Coin, L. Peltonen, M. McCarthy, N. Freimer, P. Elliott, D. Balding, M. Järvelin.

140/2:45 The influence of continental axes of orientation on patterns of human gene flow. S. Ramachandran, N. A. Rosenberg.

141/3:00 The role of geography and drift in human adaptation. G. Coop, J. K. Pickrell, S. Kudaravalli, J. Novembre, R. M. Myers, M. W. Feldman, J. K. Pritchard.

142†/3:15 Accelerated genetic drift on chromosome X during the human dispersal out of Africa. A. Keinan, J. Mullikin, N. Patterson, D. Reich.

143/3:30 Sex-biased demographic processes shape genomic patterns of human diversity. J. Wall, M. F. Hammer, F. L. Mendez, M. P. Cox, A. Woerner.

144†/3:45 Genome-wide patterns of population structure and admixture in Africans and African Americans. K. Bryc, M. Nelson, J. Oksenberg, S. Hauser, C. Bustamante, S. Tishkoff.

145/4:00 Estimating pleiotropy in pigmentation traits using admixed populations. E. E. Quillen, S. Beleza, R. A. Kittles, R. W. Periera, J. Rocha, T. Frudakis, M. D. Shriver.

146/4:15 Gene regulation in primates evolves under tissue-specific selection pressures. R. Blekhman, A. Oshlack, A. E. Chabot, G. K. Smyth, Y. Gilad.

† Student Award Finalist

Thursday, November 13

6:30 PM–8:00 PM

SESSION 36 – Publications Workshop: Demystifying the Road to Publication

Room 109

Moderator: Robin Williamson, Deputy Editor, The American Journal of Human Genetics, Boston, MA

Publishing experimental results is a goal of most reserachers, but the process is often filled with frustration and disappointment. For many authors, organizing and discussing data in a clear and concise fashion is a cumbersome task. Additionally, it is difficult to know which journal is the most appropriate for a manuscript. At the journal office, editors often receive papers that lack a few fundamental pieces that would have allowed an extra level of consideration. Also, peer-review is an essential part of the publication system, but it is only as effective as the comments that are generated and the response of the authors to the reviews. At this session, the editors from three prominent genetics journals will offer some guidelines to follow during the publication and review process. Following the speakers, there will be a 20-minute question and answer session with a panel of editors from a variety of journals. A boxed supper will be served.

Speakers:
John Carey, The American Journal of Medical Genetics, Salt Lake City, UT

Nancy J. Cox, Genetic Epidemiology, Chicago, IL

Cynthia C. Morton, The American Journal of Human Genetics, Boston, MA

Admission by advance ticket purchase only; Cost is $25 and deadline to register is September 19.

Thursday, November 13

8:00 PM–10:00 PM

SESSION 37 – Presidential Symposium: Human Genome Stories

Hall A

Moderator: Aravinda Chakravarti, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD

8:00 PM My genome. J. C. Venter, J. Craig Venter Institute, Rockville, MD.

8:30 PM Accessing our genomes. R. A. Gibbs, Baylor College of Medicine, Houston, TX.

9:00 PM The human microbiome: exploring the microbial part of our genetic landscape. J. I. Gordon, Washington University School of Medicine, St. Louis, MO.

9:30 PM Neandertal genomics. S. Pääbo, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany.

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 38 – Structural Genomic Variation and Disease

Hall A

Co-Moderators: Stephen W. Scherer, Hospital for Sick Children, Toronto, Ontario, Canada; and A. John Iafrate, Massachusetts General Hospital, Boston

147/8:00 A High-Resolution Smaller Insertion and Deletion Map of a Human Genome by Next-Generation, High-Throughput Paired-End Sequencing. E. F. Tsung, H. E. Peckham, Z. Zhang, S. S. Ranade, C. C. Lee, C. R. Clouser, J. M. Manning, C. L. Hendrickson, L. Zhang, E. T. Dimalanta, T. D. Sokolsky, J. K. Ichikawa, F. C. Hyland, J. M. Kidd, C. Alkan, J. A. Malek, F. M. De La Vega, G. L. Costa, E. E. Eichler, K. J. McKernan.

148/8:15 The contribution of common and rare Copy Number Variants to disease risk in seven common diseases. M. Hurles on behalf of the Wellcome Trust Case Control Consortium.

149/8:30 Genome-wide profiles of SNP and copy number variation in 1,260 HapMap individuals from multiple global populations. E. Dermitzakis, Broad Institute, Baylor College of Medicine, and Wellcome Trust Sanger Institute Consortium.

150†/8:45 A comprehensive map of common copy number variation at 50bp resolution, and resulting biological insights. D. F. Conrad, D. Pinto, L. Feuk, R. Redon, N. Carter, C. Lee, S. W. Scherer, M. E. Hurles.

151/9:00 Detection of 100 - 500 kb chromosome abnormalities: Utilization of a quantitative whole genome SNP array. S. Schwartz, L. Henderson, D. Conrad, C. Ober, R. Nicolae, D. Waggoner, C. Tan, A. Murmann.

152/9:15 Role of DNA copy number variation in susceptibility to childhood cancer. A. Shlien, U. Tabori, C. R. Marshall, M. Pienkowska, L. Feuk, A. Novokmet, S. Nanda, H. Druker, S. W. Scherer, D. Malkin.

153/9:30 Association of Paternal DNA Copy Number Variation with Risk of Sporadic Retinoblastoma in an Offspring. E. C. Chao, K. Wang, S. Walther, J. A. Richards, G. Bunin, A. Ganguly.

154/9:45 A common genomic copy number variant locus is associated with colorectal cancer risk and poor survival. R. Abdel-Rahman, G. Zogopolous, S. Farrington, A. Gropper, K. Ha, K. Hyeja, S. Moore, G. Bader, R. Gryfe, B. Zanke, A. Montpetit, P. Laflamme, J. Hurley, T. Chiang, A. Tenesa, D. Farhat, T. Hudson, M. Dunlop, G. Steve, H. Campbell.

155/10:00 Greater Burden of Rare Copy Number Variants in Schizophrenia. J. Stone, Int. Schizophrenia Consortium.

156/10:15 Common deletions of non-coding regions are strongly associated with Crohn’s disease and body mass index. S. McCarroll, A. Elliott, A. Huett, P. Kuballa, S. Chilewski, A. Landry, M. Zody, P. Goyette, E. Speliotes, J. Hirschhorn, J. Rioux, D. Altshuler, R. Xavier, M. Daly, NIDDK IBD Genetics Consortium, GIANT Consortium.

† Student Award Finalist

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 39 – Autoimmunity and Complex Traits

Ballroom A

Co-Moderators: Judy H. Cho, Yale School of Medicine, New Haven, CT; and Joel Hirschhorn, Harvard Medical School, Boston, MA

157/8:00 Genomewide Association Study in Ankylosing Spondylitis Identifies Major non-MHC Genetic Determinants of Disease Susceptibility. D. Evans, P. Leo, A. Sims, W. Maksymowych, M. Ward, M. Stone, P. Rahman, M. Weisman, R. Inman, D. Gladman, J. Davis, T. Learch, L. Savage, L. Diekman, P. Danoy, J. Pointon, X. Zhou, P. Wordsworth, J. Reveille, M. Brown.

158/8:15 Meta-analysis of rheumatoid arthritis genome-wide association studies identifies common variants at CD40 and five other gene loci. R. M. Plenge, S. Raychaudhuri, E. F. Remmers, A. T. Lee, L. Gianniny, L. Padyukov, L. A. Criswell, C. I. Amos, M. F. Seldin, D. L. Kastner, T. W. J. Huizinga, N. de Vries, J. Worthington, M. Seielstad, R. E. M. Toes, E. W. Karlson, A. B. Begovich, L. Klareskog, P. K. Gregersen, M. J. Daly, BRASS, EIRA, GENRA, NARAC, WTCCC.

159/8:30 Functional analysis of the rheumatoid arthritis associated 6q23 region; regulation of TNFAIP3. L. Elsby, T. Eastell, J. Worthington, D. Ray, R. Donn.

160/8:45 Genome-wide association scan of psoriasis implicates genes associated with T cell differentiation. A. M. Bowcock, J. Ding, K. Callis Duffin, R. P. Nair, P. E. Stuart, D. Goldgar, C. Helms, T. Tejasvi, J. E. Gudjonsson, A. Menter, J. J. Voorhees, G. G. Krueger, J. T. Elder, G. R. Abecasis, Collaborative Association Study of Psoriasis.

161/9:00 Identification of a putative association between a common variant in the Thyroid stimulating hormone receptor (TSHR) gene, known to predispose to autoimmune thyroid disease, and preterm birth. T. M. Frayling, R. M. Freathy, D. Velez, J. Bartlett, S. Fortunato, S. M. Ring, B. Shields, A. T. Hattersley, S. M. Williams, G. Davey Smith, R. Menon, C. Relton.

162/9:15 Genome-Wide Association Study Reveals a Novel Locus for Male Pattern Baldness. J. B. Richards, X. Yuan, F. Geller, D. Waterworth, V. Bataille, D. Glass, K. Song, G. Waeber, P. Vollenweider, B. Walters, U. Thorsteinsdottir, A. Kong, H. Stefansson, K. Stefansson, T. D. Spector, V. Mooser.

163/9:30 Genome-wide association scan for genetic determinants of warfarin dose. R. McGinnis, F. Takeuchi, S. Bourgeois, N. Soranzo, V. Ranganath, N. Eriksson, J. Lindh, A. Rane, M. Wadelius, P. Deloukas.

164/9:45 Genomic Landscapes of Pemetrexed Induced Cytotoxicity. S. Duan, W. K. Bleibel, E. O. Kistner, R. S. Huang, S. M. Delaney, M. E. Dolan.

165/10:00 Association of PDE4D with Asthma. B. E. Himes, A. J. Murphy, B. Klanderman, R. Lazarus, J. Lasky-Su, M. F. Ramoni, S. T. Weiss.

166/10:15 Genome wide association identifies an asthma susceptibility locus on chromosome 1q31 in both Caucasian and African American children. P. Sleiman, M. Imielinski, J. P. Bradfield, K. Annaiah, S. Willis-Owen, N. M. Rafael, S. Michel, C. E. Kim, R. Grundmeier, J. Allen, J. Spergel, J. Christie, M. Kabesch, M. F. Moffatt, M. M. Grunstein, K. C. Barnes, M. Magnusson, S. F. A. Grant, H. Bisgaard, H. Hakonarson.

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 40 – Vascular and Cardiac Disease

Ballroom B

Co-Moderators: Amy E. Roberts, Children's Hospital Boston, MA; and Angela E. Lin, Massachusetts General Hospital, Boston

167/8:00 Towards a revised Ghent nosology for the Marfan syndrome. B. Loeys, B. Callewaert, J. De Backer, L. Faivre, G. Jondeau, R. Devereux, R. Pyeritz, P. Sponseller, P. Wordsworth, D. Milewicz, H. Dietz, A. De Paepe.

168/8:15 Comprehensive genetic analysis and thorough evaluation of phenotypes according to Ghent criteria in 135 Japanese patients with suspected Marfan syndrome. H. Morisaki, K. Akutsu, H. Ogino, T. Morisaki.

169/8:30 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. G. Jondeau, G. Collod-Beroud, L. Faivre, L. Gouya, D. Attias, B. Chevallier, C. Boileau, C. Stheneur.

170/8:45 A Developmentally-Imposed Fixed Alteration in Cellular Identity Contributes to Pathogenesis in Marfan Syndrome (MFS). M. E. Lindsay, D. C. Loch, Y. Chen, H. C. Dietz.

171/9:00 Treatment with Dexamethasone Reverses Impared Elastogenesis and Collagenogenesis in Cultures of Fibroblasts from Patients with Loeys-Dietz Syndrome (LDS). A. Hinek, C. P. Barnett, T. J. Bradley, D. Chitayat.

172/9:15 LTBP2 mutation in autosomal recessive microspherophakia with marfanoid features. M. Abramowicz, Y. Sznajer, F. Roulez, J. Desir.

173/9:30 Altered Cytokine Signaling in Vascular Ehlers-Danlos Syndrome (vEDS). T. K. Cooper, Q. Zhong, U. Schwarze, M. Pepin, P. Byers, H. C. Dietz.

174/9:45 Using Drosophila heart to uncover the genes contributing to Down syndrome congenital heart disease. T. R. Grossman, A. Gamliel, R. J. Wessells, O. Taghli-Lamallem, K. Jepsen, J. R. Korenberg, M. G. Rosenfeld, R. Bodmer, E. Bier.

175/10:00 Knock-In Mouse Model of Dilated Cardiomyopathy Caused by Titin Mutation. B. Gerull, M. Gramlich, B. Michely, C. Krohne, I. Morano, H. Granzier, S. Labeit, L. Thierfelder.

176/10:15 MCTP2 plays an important role in left ventricular outflow tract development. S. R. Lalani, S. M. Ware, X. Wang, L. Potocki, G. Zapata, M. Bray, A. C. Chinault, B. A. Boggs, E. K. Brundage, J. A. Towbin, A. Patel, S. D. Fernbach, M. Baker, S. L. Hamilton, K. L. McBride, J. W. Belmont.

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 41 – Genetic Counseling, Testing, ELSI Issues

Room 103

Co-Moderators: Ada Hamosh, Johns Hopkins University, Baltimore, MD; and Barbara A. Bernhardt, University of Pennsylvania, Philadelphia

177/8:00 Motivators for participation in a whole genome sequencing study: The ClinSeq experience. F. M. Facio, B. B. Biesecker, S. Brooks, J. Loewenstein, L. G. Biesecker.

178/8:15 Effect of an educational consent video on family study research participants' preferences for future use of DNA. S. Lewis, K. Spates, G. D. Hughley, C. Burant, P. M. Marshall, G. L. Wiesner.

179/8:30 Inferential Genotyping in Mormon Founders and Utah pedigrees. J. Gitschier.

180/8:45 Comparison of Family Healthware™ and Physicians' Family History Documentation Among 1124 Patients. S. M. O'Neill, E. J. Starzyk, R. A. Kattezham, W. S. Rubinstein.

181/9:00 Fragile X allele frequency comparisons among different ethnicities. A. Cronister, S. Bhatt, Y. Wang, L. Rosenblum-Vos.

182/9:15 Clinical implementation of a high-resolution oligonucleotide based array-CGH platform for the detection of deletions and duplication in Dystrophin (DMD) and neighboring genes on Xp21. D. del Gaudio, J. A. Lee, E. S. Schmitt, H. Pham, E. Spiegel, R. J. Wapner, L. Groome, C. M. Eng.

183/9:30 Intellectual Property Challenges for Development of Multi-gene Diagnostic Tests. S. Chandrasekharan, R. Cook-Deegan.

184/9:45 Reasons for GJB2/GJB6 testing vary by cultural affiliation: Preliminary data from a collaborative research project on the impact of genetic information on deaf individuals. C. Palmer, P. Boudreault, E. Baldwin, A. Martinez, M. Fox, J. Linden, R. Trank, L. Dutton, L. Tullis, D. Kovacs, L. Perez, Y. Kobayashi, J. Sinsheimer, Y. Sininger, W. Grody.

185/10:00 Long term outcome of presymptomatic testing in Huntington disease. A. Durr, M. Gargiulo, S. Lejeune, M.-L. Tanguy, K. Lahlou-Laforêt, A. Faudet, D. Cohen, J. Feingold.

186/10:15 APOE Testing for Alzheimer’s Disease (AD) Risk Assessment: the Potential for Underestimating Risk. S. Hiraki, J. S. Roberts, C. A. Chen, R. C. Green.

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 42 – Clinical Genetics II

Room 113

Co-Moderators: Ann M. Slavotinek, University of California, San Francisco; and Julian A. Martinez-Agosto, University of California, Los Angeles

187/8:00 Linear clinical progression independent of age of onset in Niemann-Pick Disease, type C. N. M. Yanjanin, J. I. Vélez, A. Gropman, K. King, C. C. Brewer, B. Solomon, W. Pavan, M. Arcos-Burgos, M. C. Patterson, F. D. Porter.

188/8:15 Renal phenotypes related to TCF2/HNFIB rearrangements diagnosed antenatally. K. Dahan, N. Godefroid, L. Collard, A. Destree, M. Lizon, W. Courtens, O. Devuyst, Y. Pirson.

189/8:30 Clinical and Molecular Insights into Branchio-Oculo-Facial Syndrome (BOFS). J. M. Milunsky, T. Maher, G. Zhao, D. Chitayat, M. Cunningham, W. Meschino, A. Megarbane, H. Stalker, R. Zori, A. Lin.

190†/8:45 Disruption of highly conserved, very distant regulatory elements on either side of SOX9 is associated with Pierre Robin sequence. S. Benko, J. A. Fantes, J. Amiel, D. J. Kleinjan, S. Thomas, J. Ramsay, N. Jamshidi, A. Essafi, C. T. Gordon, C. Golzio, N. Kilpatrick, P. Thomas, M. Vekemans, N. D. Hastie, A. Munnich, A. Pelet, P. G. Farlie, D. R. FitzPatrick, S. Lyonnet.

191/9:00 Detailed Characterization of the Dyskeratosis Congenita Phenotypic Spectrum. C. M. Mueller, N. Giri, G. Seratti, B. P. Alter, S. A. Savage.

192/9:15 Semaphorins as Candidate Genes in Hirschsprung Disease. S. Arnold, M. Guy, K. Kashuk, Y. Li, G. Abecasis, A. Chakravarti, International HSCR Consortium.

193/9:30 Genetic variants on NRG1 confer susceptibility to Hirschsprung disease. C. S. Tang, M. M. Garcia-Barceló, S. S. Cherny, P. C. Sham, P. K. H. Tam.

194/9:45 High resolution array comparative genome hybridization reveals de novo and rare inherited changes in patients with congenital diaphragmatic hernia. M. J. Wat, A. M. Holder, C. J. Fernandes, A. Johnson, K. P. Lally, D. Tibboel, A. de Klein, B. Lee, D. A. Scott.

195/10:00 Mutations in Frem1 yield an animal model of retrosternal diaphragmatic hernia. D. A. Scott, M. Wat, B.-J. Kim, O. A. Shchelochkov, D. W. Stockton, M. J. Justice, B. Lee.

196/10:15 The CHD7 protein, mutated in CHARGE syndrome, binds to enhancers marked with mono- and di-methylated H3K4. M. P. Schnetz, C. F. Bartels, D. Balasubramanian, R. Balaji, T. LaFramboise, P. C. Scacheri.

† Student Award Finalist

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 43 – eQTL and Analysis of Sequence Data

Room 201

Co-Moderators: Karen N. Conneely, Emory University, Atlanta, GA; and Tara C. Matise, Rutgers University, Piscataway, NJ

197/8:00 Whole blood genome-wide gene expression in the KORA population. D. D. Mehta, K. Heim, T. Illig, H. E. Wichmann, T. Meitinger, H. Prokisch.

198/8:15 Association mapping of expression trait loci from peripheral blood CD4+ lymphocytes. B. A. Raby, A. Murphy, J. Chu, V. Carey, B. J. Klanderman, S. Sylvia-Senter, J. Ziniti, C. Lange, S. T. Weiss.

199/8:30 Population Genetics and Genomics of Human Gene Expression. B. E. Stranger, S. B. Montgomery, C. E. Ingle, M. Sekowska, C. Beazley, C. Barnes, S. McCarroll, S. Tavaré, M. E. Hurles, P. Deloukas, E. T. Dermitzakis.

200/8:45 A comprehensive gene network based on genetic correlations among gene expression levels. H. H. H. Göring, E. I. Drigalenko, J. E. Curran, T. D. Dyer, J. C. Charlesworth, M. P. Johnson, S. E. Cole, E. K. Moses, J. Blangero.

201†/9:00 Expanded Catalog of eQTL’s for Lymphoblastoid Cell Lines. L. Liang, N. Morar, M. Moffatt, G. M. Lathrop, G. R. Abecasis, W. O. C. Cookson.

202/9:15 Genotype-by-sex interactions influence the regulation of human gene expression. L. E. Bauman, J. C. Charlesworth, J. W. Kent, Jr., J. E. Curran, M. P. Johnson, S. E. Cole, T. D. Dyer, E. K. Moses, J. Blangero, H. H. H. Göring.

203/9:30 BFAST: Blat-like fast alignment search tool. N. Homer, S. F. Nelson, B. Merriman.

204†/9:45 Efficient Reconstruction of Whole Genomes Using Massively Parallel Shotgun Sequence Data. Y. Li, G. R. Abecasis.

205/10:00 LD-based SNP discovery and genotype calling from DNA sequence data. P. Scheet.

206/10:15 Power of deep all-exon resequencing for discovery of human trait genes. G. Kryukov, A. Shpunt, J. Stamatoyannopoulos, S. Sunyaev.

† Student Award Finalist

Friday, November 14

8:00 AM–10:30 AM

Concurrent Platform Sessions III (38-44)

SESSION 44 – Molecular Basis of Mendelian Diseases

Room 204

Co-Moderators: Carlos A. Bacino, Baylor College of Medicine, Houston, TX; and Susan A. Slaugenhaupt, Massachusetts General Hospital Simches Research Center, Boston, MA

207/8:00 Homozygous R316Q mutation in the obesity-associated FTO gene causes a severe polymalformative syndrome. S. Boissel, O. Reish, F. Molinari, N. Kadhom, C. Golzio, H. Etchevers, A. Munnich, L. Colleaux.

208/8:15 Variants in CAST, the gene encoding Calpastatin, associate with variation in lung disease severity in cystic fibrosis (CF). V. K. Doshi, L. Vanscoy, S. M. Blackman, J. M. Collaco, L. Bremer, G. R. Cutting.

209/8:30 Dymeclin, the protein defective in Dyggve-Melchior-Clausen syndrome is a peripheral membrane protein dynamically associated with the Golgi apparatus. A. Dimitrov, V. Paupe, C. Gueudry, J. B. Sibarita, G. Raposo, O. Vielemeyer, Z. Csaba, T. Attie-Bitach, P. Gressens, P. Rustin, F. Perez, V. El Ghouzzi.

210/8:45 The ribosomal biogenesis protein EMG1 is mutated in Bowen-Conradi Syndrome. J. Armistead, S. Khatkar, B. Meyer, P. Koetter, E. Nylen, S. Liu, G. Coghlan, K. Wrogemann, C. Greenberg, K. D. Entian, T. Zelinski, B. Triggs-Raine.

211/9:00 Molecular basis of Y-linked hearing impairment (DFNY1) in a Chinese pedigree. C. Tyler-Smith, Y. Xue, Asan, Q. Long, D. J. Turner, F. Yang, M. Quail, B. L. Ng, N. P. Carter, H. Yang, Q. Wang.

212/9:15 The XLMR gene ACSL4 plays a role in dendritic spine architecture. I. Meloni, V. Parri, R. De Filippis, F. Ariani, R. Artuso, M. Bruttini, E. Katzaki, I. Longo, F. Mari, C. G. Dotti, A. Renieri.

213/9:30 Genetic Basis of DYT6 Dystonia. T. Fuchs, R. Saunders-Pullman, D. Raymond, P. de Carvalho Aguiar, A. Brashear, S. B. Bressman, L. J. Ozelius.

214/9:45 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. B. S. Budde, Y. Namavar, P. G. Barth, B. T. Poll-The, P. Nuernberg, F. Baas.

215/10:00 The mitochondrial protease AFG3L2, a key player in axonal development and cerebellar degeneration. G. Casari, F. Maltecca, L. Cassina, G. A. Cox, J. L. Guenet, A. Quattrini.

216/10:15 AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AFG3L2 homocomplex in the cerebellum. D. DiBella, F. Lazzaro, A. Brusco, G. Battaglia, A. Pastore, A. Finardi, V. Fracasso, M. Plumari, C. Cagnoli, F. Tempia, A. Brussino, C. Gellera, C. Mariotti, P. Plevani, S. DiDonato, T. Langer, M. Muzi-Falconi, F. Taroni.

Friday, November 14

1:30 PM–2:15 PM

SESSION 45 – William Allan Award Presentation and Lecture

Hall A

This award, which includes $10,000 and an engraved medal, is presented for substantial scientific contributions to human and medical genetics carried out over a lifetime of scientific inquiry.

Introduced by:
Stylianos Antonarakis
University of Geneva Medical School
Geneva, Switzerland

Recipient:
Haig H. Kazazian, Jr.
Seymour Gray Professor of Molecular Medicine in Genetics
Department of Genetics
University of Pennsylvania School of Medicine
Philadelphia

On Jumping Fields and "Jumping Genes"

Real progress in human genetics requires cooperative patients, outstanding colleagues and trainees, and lots of good luck. In my experience, the most important of these has been the superb quality of my colleagues and trainees who have consistently provided excellent insights. Over the past 40 years, I've had two nice discoveries. Although both came during the logical progression of research, they were still big surprises. The first was that because of linkage disequilibrium there is an association of chromosome haplotypes with disease-causing mutations. This linkage disequilibrium can be very helpful in characterizing the mutations in any single-gene disorder. We used it to characterize the mutations causing -thalassemia in various populations. This first discovery was largely due to colleagues and trainees at Johns Hopkins, especially Stylianos Antonarakis, and a wonderful collaboration with Stu Orkin at Harvard and Pat Giardina, Director of the Cornell Thalassemia Clinic, who supplied patient samples. Nowadays, PCR and better sequencing techniques has made this pleasing analytical technique much less useful.

The second discovery was that transposable elements are active in present-day human beings and when they "jump" they can cause disease. Finding "jumping genes" in human beings caused me to "jump" fields in order to study the biology of these fascinating pieces of DNA. This discovery was greatly aided by a large collection of hemophilia A patient samples assembled by Stylianos Antonarakis and the many families sending samples to the lab for prenatal diagnosis. After considerable effort, we isolated the full-length LINE-1 precursor of an insertion into the FVIII gene that caused hemophilia A, and showed that it and other full-length LINE-1s will retrotranspose in tissue culture. Colleagues at Hopkins and Penn were crucial to this work, especially John Moran at Penn who devised the tissue culture assay. Now we can characterize human LINE-1 "jumps" not only in tissue culture but also in transgenic mice and rats, and we're learning much that I'll discuss about their biology and evolution.

Friday, November 14

2:15 PM–3:15 PM

SESSION 46 – ASHG Membership/Business Meeting.

Hall A

Presiding: Aravinda Chakravarti, ASHG President

Reports highlighting current Society business will be presented to inform ASHG members and anyone else attending the meeting. The minutes of the previous meeting will be presented for approval. Committee chairpersons will report on their activities for the year and will discuss plans for the upcoming year. Those who are retiring will be thanked for their years of service.

Friday, November 14

4:00 PM–6:00 PM

SESSION 47 – Distinguished Speakers' Symposium: Systems Biology, Regulatory Networks and Disease

Hall A

Moderator: Michael Lovett, Washington University School of Medicine, St. Louis, MO

Human geneticists have successfully identified the underlying sequence alterations that cause most Mendelian disorders and are starting to unravel the molecular basis of common complex diseases. However, it is clear that a full understanding of disease pathogenesis and possible routes to treatment will require a much broader and in-depth description of genetic interactions. Systems biology is beginning to describe the complex networks that drive these fundamental biological processes. In this session, four distinguished investigators from the field of systems biology will describe how information from model organisms and human disease states can aid our understanding of how complex gene networks are constructed and regulated.

Variability and robustness in biomolecular systems. N. Barkai, Weizman Institute of Science, Israel.

A genome-wide atlas to identify master regulators of physiologic and pathologic phenotypes. A. Califano, Herbert Irving Columbia Cancer Center, New York, NY.

A global view of genomically encoded regulatory logic for development. E. Davidson, California Institute of Technology, Pasadena.

Network medicine: From cellular networks to the human diseasome. A. Barabasi, Northeastern University, Boston, MA.

Sponsored by Helicos Bioscience

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 48 – Autism

Hall A

Co-Moderators: John B. Vincent, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; and Susan L. Santangelo, Harvard Medical School, Massachusetts General Hospital, Boston

217/8:00 Genome-wide oligonucleotide Array CGH for etiological diagnosis of mental retardation and autism spectrum disorders: a multi-center experience on 1,551 clinical cases. Y. Fan, B. Xiang, B. Wu, P. Li, M. Li, T. Chen, H. Zhu, Y. Shen, K. Lu, M. Mahoney, M. Seashore, A. Bale, J. McGrath, H. Andersson, T. Narumanchi, X. Hu, Y. Wang, J. Martinez, University of Miami Clin Genet Group.

218/8:15 Mechanisms and clinical significance of copy number changes (CNCs) detected by aCGH in a pediatric patient population. E. L. Baldwin, E. C. Thorland, A. R. Brothman, C. L. Martin, D. H. Ledbetter.

219/8:30 Genomic Landscape of Autism Spectrum Disorders. M. Bucan, K. Wang, J. Glessner, M. Imielinski, D. Hadley, J. Bradfield, C. Kim, L. Sonnenblick, N. Gidaya, V. Kustanovich, A. Singelton, C. Lajonchere, J. Kim, M. Li, R. Cantor, B. Abrahams, S. Grant, D. Geschwind, H. Hakonarson.

220/8:45 The Autism Genome Project: Dissecting the genetic and genomic etiology of autism. J. S. Sutcliffe for the Autism Genome Project.

221†/9:00 Homozygous deletions in pedigrees with autism and recent shared ancestry implicate heterogeneous loci and genes. E. Morrow, N. M. Mukaddes, S. Balkhy, G. Gascon, S. Y. Yoo, J. N. Partlow, B. Barry, K. Markianos, C. A. Walsh, Homozygosity Mapping Collaborative for Autism (HMCA).

222/9:15 Rare de novo CNVs: Matching mouse gene knockout models to human mental retardation. C. Webber, J. Y. Hehir-Kwa, D. Q. Nguyen, B. B. A. de Vries, J. A. Veltman, C. P. Ponting.

223/9:30 A large-scale high-density linkage study of autism identifies multiple genome-wide significant loci. D. E. Arking, L. A. Weiss, C. W. Brune, K. West, E. H. Cook, M. J. Daly, A. Chakravarti.

224/9:45 New linkage analysis by the Autism Genome Project (AGP) reveals strong evidence of linkage to multiple loci as well as gene-gene interactions. V. Vieland, Autism Genetics Cooperative and Autism Genome Project.

225†/10:00 Mutations in patched domain containing 1 gene (PTCHD1) are associated with autism spectrum disorder. A. Noor, C. R. Marshall, S. W. Scherer, J. B. Vincent.

226/10:15 Reciprocal Co-regulation of EGR2 and MECP2 is Disrupted in Rett Syndrome and Autism. S. E. Swanberg, R. P. Nagarajan, D. H. Yasui, S. Peddada, J. M. LaSalle.

† Student Award Finalist

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 49 – MicroRNAs and Disease

Ballroom A

Co-Moderators: Arupa Ganguly, University of Pennsylvania, Philadelphia; and Ying-Hui Fu, University of California, San Francisco

227/8:00 Sequencing reveals low variability in human microRNA genes. C. H. Lee, L. Pennachio, A. Pertsemlidis.

228/8:15 The genetic control of microRNA expression in Humans. C. Borel, S. Deutsch, H. Attar, M. Gagnebin, C. Gehrig, E. Falconnet, Y. Dupré, S. E. Antonarakis.

229/8:30 Genome-wide profiling for determination of microRNAs involved in brain-related endophenotypes. M. Carless, T. Dyer, J. Curran, R. Duggirala, D. Glahn, J. Blangero.

230/8:45 Influence of Genomic Variance on the Transcriptome in Human Brain Tissues. J. Gibbs, M. van der Brug, D. Hernandez, S. Lai, B. Traynor, M. Cookson, A. Singleton.

231/9:00 Integrative epigenetic regulation via MeCP2 mediated control over microRNA 137 in a mouse model of Rett Syndrome. K. Szulwach, X. Li, R. Smrt, L. Li, Y. Li, Y. Luo, N. Santistevan, W. Li, X. Zhao, P. Jin.

232/9:15 Differential miRNA-mediated regulation of two isoforms of the receptor for neurotrophin-3 (NTRK3). M. Guidi, B. Kagerbauer, M. Muinos-Gimeno, X. Estivill, Y. Espinosa-Parrilla.

233†/9:30 Identification of a novel cataract gene, TDRD7, and its role in P body-mediated post-transcriptional regulation in the lens. S. A. Lachke, F. S. Alkuraya, I. Saadi, R. Cavallesco, A. C. Tsai, A. V. Drack, R. L. Maas.

234/9:45 microRNA regulation of chemoresistance in NSCLC. A. Pertsemlidis, L. Du, R. Greer, A. Gazdar, S. Hammond, M. White, J. Minna.

235/10:00 MicroRNA-Mediated Cardiac Dysfunction and Myosin Regulation. J. T. C. Shieh, D. Srivastava.

236/10:15 First evidence for an association of a functional variant in the miRNA-510 target site of the serotonin receptor type 3E gene with diarrhea predominant irritable bowel syndrome. J. Kapeller, L. A. Houghton, H. Mönnikes, J. Walstab, D. Möller, H. Bönisch, B. Burwinkel, F. Autschbach, B. Funke, F. Lasitschka, N. Gassler, C. Fischer, P. J. Whorwell, W. Atkinson, C. Fell, K. J. Büchner, M. Schmidtmann, A.-S. Wisser, G. Rappold, B. Niesler.

† Student Award Finalist

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 50 – Cancer Genetics and Cytogenetics

Ballroom B

Co-Moderators: Cynthia C. Morton, Brigham and Women's Hospital, Harvard University Medical School, Boston, MA; and Shalini C. Reshmi, Columbus Children's Hospital, Columbus, OH

237/8:00 Homologous Recombination conserves DNA sequence integrity throughout the cell cycle in embryonic stem cells. L. Serrano, L. Liang, Y. Chang, L. Deng, C. Maulion, S. C. Nguyen, J. Tischfield.

238/8:15 A Mouse Model for Hypomorphic Atr Expression. R. L. Ragland, M. F. Arlt, T. W. Glover.

239/8:30 Cancer resistance in Down syndrome: trisomy increases survival in a sarcoma mouse model in an Ets2-independent manner. A. Yang, R. H. Reeves.

240/8:45 Common and cancer type-specific loss-of-heterozygosity (LOH) in the tumor stroma and epithelium of 3 carcinoma types associated with clinical outcome. M. Orloff, L. Zhang, Y. Xu, C. Eng.

241/9:00 Pseudo Myosin Light Chain Kinase (MLCK) Gene Transcribes in Cancerous Tissues and Cells. Y. Han, J. Garcia, P. de Lanerolle.

242/9:15 Non-recipient DNA in squamous cell carcinomas of transplant patients. A. Toland, A. Dworkin.

243/9:30 Characterization of Circulating Tumor Cells by Fluorescence In-Situ Hybridization. J. F. Swennenhuis, A. G. J. Tibbe, R. Levink, R. C. J. Sipkema, L. W. M. M. Terstappen.

244/9:45 AXIN2, Orofacial clefts and positive family history for cancer. R. Menezes, M. L. Marazita, T. G. McHenry, M. E. Cooper, K. Bardi, C. Brandon, A. Letra, R. A. Martin, A. R. Vieira.

245/10:00 High-resolution array-CGH Analyses of Common Hematological Malignancies Using Custom Designed Cancer-specific Oligonucleotide Arrays. M. Li, X. Hu, D. Mercer, H. Safah.

246/10:15 Differentiation of renal oncocytoma and chromophobe renal cell carcinoma by interrogation of CCND1 by FISH and IHC: evidence that one-third of renal oncocytomas harbor a CCND1 abnormality. A. W. Carlson, W. R. Sukov, R. P. Ketterling.

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 51 – Reproductive Genetics and Gender-related Issues

Room 103

Co-Moderators: Rhona R. Schreck, Cedars-Sinai Medical Center, Los Angeles, CA; and Diana W. Bianchi, Tufts-New England Medical Center, Boston, MA

247†/8:00 Mother’s genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth. J. Plunkett, M. Feitosa, M. Trusgnich, T. Rice, I. Borecki, L. Muglia.

248/8:15 Pentraxin 3 genetic variation is associated with dizygotic twinning in The Gambia: linking innate immunity with super-fertility in a pleiotropic model. G. Sirugo, D. R. Velez, K. K. Ryckman, C. Bisseye, H. Chapman, A. Worwui, M. Diatta, G. Morris, R. Agedbola, K. Odunsi, G. Page, S. M. Williams.

249†/8:30 CFTR Val470 allele is associated with higher reproductive rates and larger families in the absence of IVS8 5T allele in fertile men. G. Kosova, C. Ober.

250/8:45 Stage-specific upregulation of epigenetic genes and IC-SNRPN transcripts during human spermatogenesis. B. Horsthemke, M. Wawrzik, A. N. Spiess, K. Buiting.

251/9:00 Factors affecting the risk of early menopause in carriers of FMR1 premutations. A. Murray, C. E. Bennett, P. A. Jacobs, J. N. Macpherson.

252/9:15 Newborn Screening for Fragile X Syndrome and Sex Chromosome Aneuploidies by FMR1 DNA Methylation. B. Coffee, T. Malone, K. Keith, J. Mowrey, S. T. Warren.

253/9:30 Prenatal microarray analysis in an apparently balanced de novo translocation: a counseling dilemma. V. Jobanputra, A. Shanmugham, S. Brown, A. Sobrino, O. Nahum, B. Levy, D. Warburton.

254/9:45 SNP PGD Microarray Analysis from a Single Embryonic Cell. W. G. Kearns, R. Pen, A. Benner, A. Kittai, E. Widra, R. Leach.

255/10:00 GATA4 Gene Deletions Identified by Clinical aCGH Analysis in Cases with Congenital Heart Defects Observed on Fetal Ultrasound. S.-H. L. Kang, O. A. Shchelochkov, A. N. Pursley, A. M. Breman, C. Sheppard, C. A. Bacino, A. Dagli, R. T. Zori, S. R. Lalani, A. Patel, S. W. Cheung.

256/10:15 Rapid generation of conditional and null mutant alleles in the mouse using targeted trapping. B. C. Bjork, F. Schnütgen, H. von Melchner, D. R. Beier.

† Student Award Finalist

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 52 – Therapy for Genetic Disorders

Room 113

Co-Moderators: Fernando Scaglia, Baylor College of Medicine, Houston, TX; and Ron Scott, University of Washington, Seattle

257†/8:00 Using Exon Skipping to Rescue Common Mutations in Hermansky-Pudlak Syndrome Type 1. L. M. Vincent, R. Hess, W. Westbroek, W. A. Gahl, M. Huizing.

258/8:15 Prognosis and treatment based upon genetic subtypes of Hermansky-Pudlak syndrome. M. Huizing, R. Hess, A. Helip-Wooley, R. Fischer, K. O'Brien, G. Golas, W. A. Gahl.

259/8:30 Long-term (2-3 years), open-label extension study of idursulfase in the treatment of Hunter syndrome. J. Muenzer, E. Wraith, M. Beck, E. Wraith, P. Harmatz, C. M. Eng, A. Vellodi, R. Martin, U. Ramaswami, M. Calikoglu, S. Vijayaraghavan, A. C. Puga, B. Ulbrich, M. Shinawi, M. Cleary, S. Wendt.

260/8:45 Eight-year clinical outcomes of enzyme replacement therapy in 884 children with type 1 Gaucher Disease. H. C. Andersson, P. Kaplan, K. Kacena, J. Yee.

261†/9:00 Long-term Rescue of a Lethal Murine Model of Methylmalonic Acidemia using AAV 8 Mediated Gene Therapy. R. J. Chandler, C. P. Venditti.

262/9:15 Enzyme replacement therapy from birth in mucopolysaccharidosis IVA mice: early treatment leads to remission of bone lesions. S. Tomatsu, A. Montaño, H. Oikawa, A. Ohashi, V. Chi Dung.

263/9:30 Combined Intracerebroventricular/Intraperitoneal Enzyme Replacement Therapy Improves Survival and Reduces Brain Psychosine in a Mouse Model of Krabbe Disease. L. Sturk, W. C. Lee, J. Pan, A. Herdt, G. S. Robinson, M. Concino, M. Heartlein, A. O. Tzianabos, C. B. Eckman.

264/9:45 Treatment of b654-Thalassemia in Mice with Delivery of siRNA and Antisense RNA Plasmids. S. Xie, J. Zhang, Z. Ren, F. Zeng, S. Huang.

265/10:00 Metabolic pathway transcriptional profiling reveals a “signature” of primary mitochondrial dysfunction that normalizes with antioxidant therapy. M. J. Falk, Z. Zhang, D. L. Gasser.

266/10:15 Amplitude-integrated electroencephalography (aEEG): a bedside monitoring tool to assess encephalopathy and seizures in patients with metabolic disorders. C. Theda, C. Aygün, M. Toet, R. Hunt, M. Olischar, D. Azzopardi, M. DiFazio, A. Hamosh, L. DeVries, L. Hellstrom-Westas, E. Shany.

† Student Award Finalist

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 53 – Mapping, Linkage and Linkage Disequilibrium

Room 201

Co-Moderators: David J. Cutler, Emory University School of Medicine, Atlanta, GA; and Suzanne M. Leal, Baylor College of Medicine, Houston, TX

267/8:00 Accuracy of Genome-Wide Imputation of Untyped Markers and Impacts on Statistical Power for Association Studies. K. Hao, E. Schadt.

268/8:15 Development of genome-wide SNP panel (6.3k) for human identification using tagging approach. S. Guha, G. Jianye, R. Chakraborty.

269/8:30 Population demographic history causes the appearance of recombination hotspots. H. R. Johnston, D. J. Cutler.

270/8:45 Genome-wide map of allelic expression associated SNPs. T. Pastinen, B. Ge, D. K. Pokholok, E. Grundberg, D. Verlaan, T. Kwan, V. Koka, K. Lam, L. Morcos, A. Montpetit, M. M. Joly, H. H. H. Göring, M. Blanchette, K. L. Gunderson.

271/9:00 Gene expression levels in African Americans vary with both cis and trans genetic ancestry. A. L. Price, N. Patterson, D. C. Hancks, S. Myers, D. Reich, V. G. Cheung, R. S. Spielman.

272/9:15 Genome wide admixture mapping identifies MYH9 as a major effect risk gene for focal segmental glomerulosclerosis. C. Winkler, M. Smith, G. Nelson, D. Vlahov, B. Freedman, D. Vlahov, T. Olelsyk, J. Kopp, NIH Kidney Genetic Study and the Wake Forest ESRD Study.

273/9:30 Admixture mapping identifies a putative chromosomal region for diabetic nephropathy (DN) in Mexican-Americans (MA). M. F. Seldin, C. Tian, M. V. Pahl, K. Chen, H. Abboud, S. B. Nicholas, E. Ipp, N. Arar, F. Thameem, J. Tayek, S. Snyder, R. Kosoy, D. G. Ballinger, S. G. Adler, Family Investigation of Nephropathy and Diabetes (FIND).

274/9:45 Haplotype analysis enabled the dissection of two chromosome 2 variants with major effect on plasma plant sterol levels on the Pacific Island of Kosrae. E. Kenny, A. Gusev, D. Lütjohann, J. Lowe, J. Salit, J. Maller, M. Stoffel, M. Daly, D. Altshuler, J. Friedman, I. Pe'er, J. Breslow, E. Sehayek.

275/10:00 A homozygous mutation in ADAMTSL4 causes isolated ectopia lentis. D. Ahram, H. El-Shanti, T. S. Sato, S. Chen, M. K. Tayeh, A. Kohailan, S. Leal, M. Al-Salem.

276/10:15 Candidate genes controlling longevity in Koreans. J. W. Park, D. H. Kim, Y. Jee, H. Y. Cho, S. C. Park, J. B. Park.

Saturday, November 15

8:00 AM–10:30 AM

Concurrent Platform Session IV (48-54)

SESSION 54 – Musculoskeletal Disorders

Room 204

Co-Moderators: Douglas Mortlock, Vanderbilt University, Nashville, TN; and Katrina Dipple, University of California, Los Angeles

277/8:00 Meta-analysis of genome-wide association studies identifies many additional height loci and highlights new biological pathways in human growth. G. Lettre, M. N. Weedon, H. Lango, GIANT Consortium.

278/8:15 Extreme short stature resulting from mutation of the C-type lectin domain of aggrecan. S. W. Tompson, B. Merriman, V. A. Funari, M. Fresquet, D. L. Rimoin, R. S. Lachman, S. F. Nelson, M. D. Briggs, D. H. Cohn, D. Krakow.

279/8:30 Chondrodysplasia: An example of fixed trait mapping in the domestic dog. H. G. Parker, P. Quignon, B. VonHoldt, T. Spady, D. S. Mosher, E. Margulies, C. D. Bustamante, R. K. Wayne, E. A. Ostrander.

280/8:45 Congenital joint dislocations and chondrodysplasia caused by carbohydrate sulfotransferase 3 (CHST3) deficiency. A. Superti-Furga, P. Hermanns, A. Megarbane, R. Mendoza-Londono, B. Afroze, A. Perez-Aytes, A. Rossi, L. Bonafé, L. Boccone, G. Nishimura, S. Hollander, J. Spranger, B. Zabel, S. Unger.

281/9:00 Spondylocheiro dysplastic form of the Ehlers-Danlos Syndrome: A novel recessive entity caused by mutations in the zinc transporter gene SLC39A13. C. Giunta, N. H. Elçioglu, B. Albrecht, G. Eich, C. Bürer-Chambaz, A. R. Janecke, H. Yeowell, M. Weis, D. R. Eyre, M. Kraenzlin, B. Steinmann.

282/9:15 ADAMTSL2 mutations in geleophysic dysplasia are responsible for a dysregulation of TGFb pathway. C. Le Goff, F. Morice-Picard, N. Dagoneau, L. W. Wang, C. Perrot, Y. J. Crow, F. Bauer, E. Flori, C. Prost-Squarcioni, D. Krakow, G. Ge, D. S. Greenspan, D. Bonnet, M. Le Merrer, A. Munnich, S. S. Apte, V. Cormier-Daire.

283/9:30 Pericentrin molecular analysis in 21 Seckel/MOPDII patients. M. Willems, D. Geneviève, G. Borck, G. Baujat, M. Gérard, D. Héron, B. Leheup, M. Le Merrer, A. Verloes, L. Colleaux, A. Munnich, V. Cormier-Daire.

284/9:45 Overlapping spectrum of mutations causing distal arthrogryposis type 1 and 2. P. Kezele, A. E. Beck, M. J. McMillin, R. Toydemir, M. J. Bamshad.

285/10:00 Mutational spectrum of the Oral-facial-digital type I syndrome: a study on a large collection of patients. B. Franco, C. Prattichizzo, M. Macca, V. Novelli, R. Tammaro, G. Giorgio, A. Barra, The OFDI collaborative group.

286/10:15 Facioscapulohumeral muscular dystrophy: gene discovery by DNase-chip. M. Ehrlich, X. Xu, K. Tsumagari, G. Crawford.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 55 – Genetic and Phenotypic Studies of Orofacial Clefts (Cleft Lip/Cleft Palate): A Model for Dissection of Complex Human Disorders

Room 103

Co-Moderators: Mary L. Marazita, University of Pittsburgh, PA; and Brian C. Schutte, University of Iowa, Iowa City

In this session, the current state of genetic and phenotypic studies of nonsydromic orofacial clefts (cleft lip/cleft palate) will be reviewed. Family studies of orofacial clefts have been reported in the scientific literature since 1757, and recently great strides have been made in determining the etiology of such birth defects. Orofacial clefts represent a model for dissection of human complex disorders in that multiple genetic factors are implicated, as are gene x environment and gene x gene interactions. Further, there is a range of phenotypic expression in orofacial cleft families, including sub-clinical phenotypic expression, that are of importance for increasing the power of genetic studies and that have relevance to clinical practice. The steps that have led to our current understanding of the etiology of orofacial clefts also encompass state of the art methods of human genetic and phenotype analysis, including linkage and association studies, phenotypic characterization, and use of animal models.

11:00 AM Introduction. J. C. Murray, University of Iowa, Iowa City.

11:20 AM Current knowledge about the genetics of cleft lip and palate. A. C. Lidral, University of Iowa, Iowa City.

11:40 AM Gene x environment interactions in orofacial clefts. T. H. Beaty, Johns Hopkins University, Baltimore, MD.

12:00 NOON Subclinical phenotypes in orofacial cleft families and framework for genetic studies. M. L. Marazita, University of Pittsburgh, Pittsburgh.

12:20 PM Identification of gene x gene interactions underlying orofacial clefting in mutant mice. M. Dixon, University of Manchester, United Kingdom.

12:40 PM Mechanistic clues from surrogate tissues and vertebrate animal models. B. C. Schutte, University of Iowa, Iowa City.

1:00 PM Questions and answers.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 56 – Models of Success: In Search of a Better Understanding and Improved Treatments of Genetic Disease

Hall A

Co-Moderators: Andrew S. McCallion, Johns Hopkins University School of Medicine, Baltimore, MD; and Nicolas Katsanis, Johns Hopkins University, Baltimore, MD

The archetype of the application of human genetics is the ability to move rapidly from the clinic to the bench and return to the clinic with improved therapeutic strategies in rapid progression. Sadly this challenge often seems insurmountable. However, there are increasing numbers of examples where evidence from human genetic analysis, combined with precise clinical phenotyping has lead to efforts in model organisms that shed light on the mechanism and in some instances are leading to improved therapeutic endeavors. These are frequently complemented by examples of observations initially made in model organisms then leading to identification of human variation underlying disease and ultimately illuminating disease mechanisms. The main objective of the session will be to highlight success stories made possible by the astute integration of clinical phenotyping, human genetics, functional analyses in model systems and clinical chemistry.

11:00 AM Introduction. A. S. McCallion, Johns Hopkins University School of Medicine, Baltimore, MD.

11:05 AM Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. J. Lupski, Baylor College of Medicine, Houston, TX.

11:31 AM Amelioration of Duchenne muscular dystrophy with antisense oligonucleotide PRO051. G. van Ommen, Leiden Univ Medical Center, Leiden, Netherlands.

11:57 AM Pharmacological treatment of Hutchinson-Gilford Progeria Syndrome in mice and humans. F. S. Collins, Former Director, National Human Genome Research Institute, NIH, Bethesda, MD.

12:23 PM Marfan syndrome and related disorders: From molecules to mice to mechanisms to medicines. H. Dietz, Johns Hopkins University School of Medicine, Baltimore, MD.

12:50 PM Questions and answers.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 57 – Fragile Sites and Human Disease

Room 201

Co-Moderators: Frank Kooy, University of Antwerp, Belgium; and Christopher E. Pearson, Hospital for Sick Children, Toronto, Ontario, Canada

Fragile sites are the cytogenetic expression of a peculiar genome structure: rare fragile sites of dynamic mutations, common fragile sites of sequences prone to chromosome rearrangements. In recent years, it has become clear that fragile sites play an important role in human disease, including mental retardation, cancer and neurodegeneration. This session presents an overview of the various types of diseases associated with different types of fragile sites as well as the mechanisms behind fragile site repeat expansion and chromosome breakage.

11:00 AM Introduction. F. Kooy, University of Antwerp, Belgium.

11:05 AM Common fragile sites, replication stress and cancer. T. W. Glover, University of Michigan, Ann Arbor.

11:25 AM Neurodegeneration induced by fragile sites. D. L. Nelson, Baylor College Medicine, Houston, TX.

11:45 AM Autosomal fragile sites and mental retardation. F. Kooy, University of Antwerp, Belgium.

12:05 PM Why fragile sites break. C. H. Freudenreich, Tufts University, Medford, MA.

12:25 PM Repeat instability: mechanisms of dynamic mutations. C. E. Pearson, Hospital for Sick Children, Toronto, Ontario, Canada.

12:45 PM Questions and answers. C. E. Pearson, Hospital for Sick Children, Toronto, Ontario, Canada.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 58 – The Proximal 15q Syndrome: A Template for Understanding Autism Spectrum Disorders

Ballroom A

Co-Moderators: James S. Sutcliffe, Vanderbilt University, Nashville, TN; and Arthur L. Beaudet, Baylor College of Medicine, Houston, TX

The investigation of idiopathic autism has been impacted by array comparative genomic hybridization methods that reveal a variety of copy number variations across the genome associated with autism. Chromosomal region 15q11q13 is known for its instability: deletions associated either with Angelman syndrome or Prader-Willi syndrome, according to parental origin; translocations; inversions; and supernumerary derivative chromosomes formed by the inverted duplication of proximal chromosome 15. Indeed, the most common cytogenetic anomaly detected in patients with developmental delay, autism or PDD-NOS are 15q isodicentric or interstitial duplications. In the smaller interstitial duplications, genes of interest include the UBE3A gene and a cluster of GABAA receptor genes, that may be responsible for the behavioral, electrophysiological and language phenotypes observed. In the larger and more common idic(15) cases clinical management differs from the idiopathic autism course. Speakers will educate attendees on the phenotypic features of the 15q duplication syndrome with an emphasis on the clinical symptoms and management. Speakers will also explore the link between these duplications and autism at the molecular level through investigations of UBE3A in Drosophila and mouse models as well as molecular studies aimed at understanding allele specific expression of the GABAA receptors in the brains of individuals with 15q duplication syndrome.

11:00 AM Introduction. A. L. Beaudet, Baylor College of Medicine, Houston, TX.

11:05 AM Studies of DNA methylation, chromatin immunoprecipitation, and strand-specific expression of RNA from 15q duplication postmortem brain. A. L. Beaudet, Baylor College of Medicine, Houston, TX.

11:25 AM The inv dup(15) or idic(15) syndrome: a clinically recognizable neurogenetic disorder with autistic symptoms. A. Battaglia, Stella Maris NST/Univ Pisa, Italy.

11:45 AM Molecular and phenotypic variability in patients with 15q syndromes. N. Schanen, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE.

12:05 PM Proteomic analysis in Drosophila melanogaster to identify candidate genes for 15q duplication and idiopathic autism. L. T. Reiter, University of Tennessee Health Science Center, Memphis.

12:25 PM Brain GABAA expression and epigenetic regulation in idic15q patients. J. LaSalle, University of California, Davis.

12:50 PM Questions and answers. J. S. Sutcliffe, Vanderbilt University, Nashville, TN.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 59 – Genetics of Sex Differences in Health and Disease

Room 113

Co-Moderators: Eric J. Vilain, University of California, Los Angeles; and Emmanuèle C. Délot, University of California, Los Angeles

Differences between males and females are found at every level, from the single cell to the organs to the entire body. These differences strongly influence the prevalence, the mode of onset and the severity of many diseases, including autoimmune disorders, cardiovascular disease, cancer, and neuropsychiatric conditions. While the study of sex differences is emerging as a crucial concept to understand susceptibility to diseases, the mechanisms by which sex differences occur remain poorly understood. The session will introduce state-of-the art research on sex differences to the community of human geneticists, establish the role of genetics versus other factors (environment, hormones) in sex differences, and demonstrate how biological sex differences influence the diagnosis, prevention and treatment of many disorders.

11:00 AM Introduction. E. J. Vilain, University of California, Los Angeles.

11:05 AM Sex differences in health and disease: genes vs. hormones. A. P. Arnold, University of California, Los Angeles.

11:20 AM Dosage compensation of the X chromosome and differences between males and females. C. M. Disteche, University of Washington, Seattle.

11:45 AM Common genetic variants determining sex differences in blood pressure. D. T. O'Connor, University of California-San Diego, La Jolla.

12:10 PM Sex differences in pain perception and modulation. J. S. Mogil, Mc Gill University, Montreal, Quebec, Canada.

12:35 PM Sex differences in addictive behaviors. J. R. Taylor, Yale University, New Haven, CT.

1:00 PM Questions and answers.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 60 – Host Genetics of Infectious Diseases in the Whole Genome Scan Era

Room 204

Co-Moderators: Iris Grossman, GlaxoSmithKline, Durham, NC; and Simon Mallal, Royal Perth Hospital and Murdoch University, Perth, Western Australia, Australia

Determinants of host genetics are steadily revealing themselves crucial to the susceptibility, severity and progression characteristics of a variety of infectious diseases. It is becoming clearly evident that the genetic make-up of the pathogen, albeit important, is an insufficient determinant of disease characteristics. The technological and analytical developments enabling routine Whole (Host) Genome Scans in recent years have paved the way for comprehensive investigation of the human component in understanding diseases of international burden, including HIV, hepatitis, tuberculosis and malaria. The results of these large, well defined WGS cohorts, which have already revolutionized our understanding of disease patho-etiology, will be presented. Moreover, direct clinical implications of both patient management and new drug discovery and development are being readily translated into clinical decision making and guiding treatment choices. Pharmacogenetic prospectives of newly emerging WGS data in infectious diseases will be discussed as ways to promote personalized infectious diseases medicine.

11:00 AM Introduction. I. Grossman, GlaxoSmithKline, Durham, NC.

11:10 AM Searching the genome for determinants of response to HIV. D. B. Goldstein, Duke University, Durham, NC.

11:35 AM Whole genome scans in tuberculosis and aspects of population admixture. E. G. Hoal, Stellenbosch University, Tygerberg, South Africa.

12:00 NOON The Influence of variation at the HLA and KIR loci on infectious disease in humans. M. Carrington, National Cancer Institute, SAIC, Frederick, MD.

12:25 PM Pharmacogenetics of antiretroviral therapy: genetic variation of response and toxicity today--lessons from the past and prospects for the future. E. Phillips, Royal Perth Hospital, Perth, Western Australia, Australia.

12:50 PM Questions and answers. S. Mallal, Royal Perth Hospital and Murdoch University, Perth, Western Australia, Australia.

Saturday, November 15

11:00 AM–1:00 PM

Concurrent Invited Scientific and Education Sessions II (55-61)

SESSION 61 – The Continuum of Translation Research in Genomic Medicine: Beyond Gene Discovery

Ballroom B

Co-Moderators: Muin J. Khoury, Centers for Disease Control and Prevention, Atlanta, GA; and Siobhan M. Dolan, Albert Einstein College of Medicine, Bronx, NY

This session presents a framework for the continuum of multidisciplinary translational research that is required to move human genome discoveries into population health benefits. We will have four presentations emphasizing the four phases of translational research. Phase 1 translation (T1) research seeks to move a basic genome-based discovery into a candidate health application (e.g., genetic tests/intervention). Phase 2 translation (T2) research assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines. Phase 3 translation (T3) research attempts to move evidence-based guidelines into health practice, through delivery, dissemination, and diffusion research. Phase 4 translation (T4) research seeks to evaluate the "real world" health outcomes of a genomic application in practice. This session will seek to engage all genetics professionals to enrich the full continuum of translational research.

11:00 AM Introduction. M. J. Khoury, Centers for Disease Control and Prevention, Atlanta, GA.

11:10 AM T1 Research: Moving a basic genome-based discovery into a candidate health application. K. Goddard, Kaiser Permanente Northwest, Portland, OR.

11:25 AM T2 Research: Systematic review of evidence on genomic applications for health practice and development of evidence-based guidelines. L. A. Bradley, Centers for Disease Control and Prevention, Atlanta, GA.

11:40 AM T3 Research: Moving evidence-based guidelines into health practice through delivery, dissemination, and diffusion research. S. M. Dolan, Albert Einstein College of Medicine, Bronx, NY.

11:55 AM T4 Research: Evaluating the "real world" health outcomes of genomic applications in practice. W. Burke, University of Washington, Seattle.

12:10 PM Questions and answers. M. J. Khoury, Centers for Disease Control and Prevention, Atlanta, GA.