ASHG: 2007 Annual Meeting - Session Listing

Session Listing

Wednesday, October 24 8:00 AM–9:30 AM

Concurrent Education Sessions I (1–3)

SESSION 1 – Genome-Wide Association Studies in the Era of Open Data Access and Collaboration

Room 20D

Moderator: Francis S. Collins, National Human Genome Research Institute, Bethesda, MD

An overview of genome-wide association (GWA) studies and major initial findings from three genome-wide association resources (the Framingham SHARe Project, the Genetic Association Information Network, and the Wellcome Trust Case Control Consortium) will be presented to permit assessment of the added value of open data sharing and of conducting such programs in a collaborative mode. Early experience with open access for these databases, data-sharing and IP policies will be described, including challenges encountered and lessons learned. “Snapshots” of issues unique to collaborative GWA studies will be presented, including comparing genotyping quality and combining data across genotyping platforms, using common controls, and harmonizing datasets for cross-study use. An example of the strengths and weaknesses of combined analysis of common phenotypes (such as body mass index) across multiple studies will be provided, and the question of shared risk alleles for the four major mental illness phenotypes included in GAIN will be considered.

8:00 AM Overview of GAIN. T. A. Manolio, National Human Genome Research Institute, Bethesda, MD.

8:20 AM Framingham SNP Health Association Resource (SHARe). E. G. Nabel, Office of the Director, National Heart, Lung, and Blood Institute, Bethesda, MD.

8:40 AM The Wellcome Trust Case-Control Consortium. P. Donnelly, Department of Statistics, University of Oxford, Oxford, United Kingdom.

9:00 AM Key findings from GAIN. J. Kelsoe, Department of Psychiatry, University of California-San Diego, La Jolla, CA.

9:20 AM Questions and answers.

Sponsored by Affymetrix, Inc.

Wednesday, October 24 8:00 AM–9:30 AM

Concurrent Education Sessions I (1–3)

SESSION 2 – The Genetics and Evolutionary History of the MHC and KIR Region Genes and Their Impact on Human Health

Room 20B/C

Co-Moderators: Ann B. Begovich, Discovery Research, Celera, Alameda, CA; and Lisa F. Barcellos, Division of Epidemiology, School of Public Health, University of California, Berkeley

Major histocompatibility complex (MHC) class I molecules are ligands for the killer-cell immunoglobulin-like receptors (KIRs), which are expressed by natural killer (NK) and T cells. The interactions between these molecules contribute to both innate and adaptive immunity. KIRs and MHC class I molecules are encoded by unlinked highly polymorphic gene families characterized by interesting patterns of strong linkage disequilibrium. Specific combinations of MHC class I and KIR variants influence resistance to infections, susceptibility to autoimmune diseases and complications of pregnancy suggesting that the interplay between KIR and MHC class I polymorphism may have facilitated human survival in the presence of epidemic infections as well as reproductive fitness. This session, designed for all members of the society, will provide a comprehensive overview of the structure of the MHC and KIR gene families, their co-evolution and their individual and joint roles in infectious and autoimmune diseases.

8:00 AM Introduction. A. B. Begovich, Discovery Research, Celera, Alameda, CA.

8:05 AM Polymorphism and Functions of MHC Genes. J. Trowsdale, Department of Pathology, University of Cambridge, Cambridge, United Kingdom.

8:25 AM Mapping the MHC for Genetic Determinants of Autoimmune and Inflammatory Diseases. J. D. Rioux, Montréal Heart Institute, Montréal, Québec, Canada.

8:45 AM Immunogenetics of Variable NK Cell Receptors. P. Parham, Department of Structural Biology, Stanford University School of Medicine, Stanford, CA.

9:05 AM The Influence of KIR/HLA Variation on Human Disease. M. Carrington, Laboratory of Genomic Diversity, NCI-FCRDC, Frederick, MD.

9:25 AM Questions and answers. L. F. Barcellos, Division of Epidemiology, School of Public Health, University of California, Berkeley.

Wednesday, October 24 8:00 AM–9:30 AM

Concurrent Education Sessions I (1–3)

SESSION 3 – Molecular Biology of Genetic Diseases of the Skin: Progress and Perspectives

Room 20A

Co-Moderators: Vazken M. Der Kaloustian, McGill University/Montreal Children's Hospital, Montreal, Quebec, Canada; and Virginia P. Sybert, University of Washington/Group Health Permanente, Seattle

"Discovery" of gene pathways explains the mechanisms by which mutations in diverse genes lead to similar patterns of disease and by which diverse mutations in the same gene result in seemingly disparate disorders. Genodermatoses are a paradigm for this. Germline mutations in the RAS pathway lead to genodermatoses, some of which predispose to malignancy. Mutations in genes coding for connexins lead to non-syndromic deafness, but they also cause several ectodermal dysplasias. Allelic and locus heterogeneities underlie both seemingly different and apparently identical disorders. Alterations in p63 cause at least five EDs. Genotype-phenotype correlations give insight into the control of embryogenesis. Elucidation of the EDA/NEMO/TNFR connection has led to understanding the shared features of incontinentia pigmenti, hypohidrotic ED and immune dysfunction. Each speaker will give a 20 minute talk, presenting a holistic approach to each pathway, to tell the life story of these genes and their partners in crime.

8:00 AM Introduction. V. M. Der Kaloustian, Pediatrics and Human Genetics, McGill University/Montreal Children, Montreal, Quebec, Canada.

8:05 AM The dermatologic phenotypes of genetic syndromes in the RAS/MAPK pathway. K. A. Rauen, Cancer Research Institute, University of California, San Francisco.

8:25 AM Gap junction diseases of the skin. G. Richard, GeneDx, Gaithersburg, MD.

8:45 AM p63 as a model of genotype-phenotype correlations. H. van Bokhoven, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

9:05 AM The NEMO/EDA pathway and ectodermal dysplasias. H. Tsao, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

9:25 AM Questions and answers. V. P. Sybert, University of Washington/Group Health Permanente, Seattle.

Wednesday, October 24 8:00 AM–9:30 AM

Concurrent Social Issues Sessions I (4–5)

SESSION 4 – Genetics Policy and Educational Issues in the Response to Hurricane Katrina: Future Implications for Mass Fatalities

Room 30

Moderator: Amanda C. Sozer, Sozer, Niezgoda and Associates, LLC, Alexandria, VA

In August 2005, Hurricane Katrina devastated an area of the United States equaling the size of Great Britain. Over 1300 individuals lost their lives, many because of the flooding which occurred when the New Orleans’ levies broke. DNA played a major role in the identification of victims and was used exclusively in many cases where fingerprints and dental records were unavailable. The DNA identification effort was challenging because many items that could have been the source of identifying DNA, such as toothbrushes, clothing, and hairbrushes, were lost during the flooding. In addition, family members were evacuated and relocated multiple times following the storm. A total of 90 genetics professional volunteers from 20 states and Canada, representing 43 institutions/private practices, went to Baton Rouge to collect family data. We share the experiences of genetics professional volunteers and identify educational and policy needs that have implications for future mass fatality victim identification efforts.

8:00 AM Lessons learned from Hurricane Katrina: organizational needs. A. C. Sozer, Sozer, Niezgoda and Associates, LLC, Alexandria, VA.

8:30 AM Lessons learned from Hurricane Katrina: educational needs. S. M. Dolan, OB/GYN and Women's Health, Albert Einstein College of Medicine, Bronx, NY.

9:00 AM Lessons learned from Hurricane Katrina: policy needs. B. B. Biesecker, Social and Behavioral Research Branch, NHGRI/NIH, Bethesda, MD.

Wednesday, October 24 8:00 AM–9:30 AM

Concurrent Social Issues Sessions I (4–5)

SESSION 5 – Understanding ART: The Ethics of Assisted Reproductive Technology

Room 28

Co-Moderators: Mark E. Nunes, Children's Hospital, Columbus, OH; and Timothy A. Caulfield, University of Alberta, Edmonton, Alberta, Canada

Assisted reproductive technology (ART) provides options for families with a wide range of genetic diagnosis to significantly reduce recurrence risk. As advances in science and technology increase what we are able to offer through ART, a vigorous dialogue concerning what we should offer through ART needs to be engaged. A discussion of what ART can and should be used for requires transparency. An overview of preimplantation genetic diagnosis (PGD) for common heritable disorders will introduce the session. The practice of "family balancing" (gender selection) will be explored as it affects practice in the United States and social policy in Asia. Issues surrounding the extension of PGD and ART to cancer genetic syndromes will be discussed. Finally, the public perception of ART will be discussed in the context of the different access and regulatory environments within the United States, Canada, and the European Union.

8:00 AM Introduction. B. Rink, Division of Molecular and Human Genetics, Division of Maternal Fetal Medicine, Children' Hospital, Columbus, OH.

8:10 AM Should males dominate ART? E. Vayena, Special Program of Research Development and Research Training, World Health Organization, Geneva, Switzerland.

8:35 AM Does ART prevent cancer? M. Sagi, Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.

9:00 AM Perceptions, Policy and Payment: How we see ART. T. A. Caulfield, Health Law Institute, Universit of Alberta, Edmonton, Alberta, Canada.

9:20 AM Questions and answers. M. E. Nunes, Department of Pediatrics, Division of Molecular and Human Genetics, Children's Hospital, Columbus, OH.

Wednesday, October 24 10:00 AM–11:30 AM

Concurrent Education Sessions II (6–8)

SESSION 6 – Proteomics for Geneticists: New Tools and Applications from the NHLBI National Proteomics Centers

Room 20B/C

Moderator: Michael Olivier, Medical College of Wisconsin, Milwaukee

The session will describe methodologies and approaches in proteomics, and illustrate how they can be used to complement, advance, and facilitate genetic studies. Presentations will focus on the recent technology developments by the National Proteomics Centers supported by the National Heart Lung, and Blood Institute of the National Institutes of Health. The presentations will review the tools and approaches available to biomedical researchers. They will emphasize separation technologies used to sub-fractionate complex proteomic samples, methodologies to identify and quantify complex proteomes, and the analytical and computational tools available to facilitate such studies. Presentations will contrast how these approaches can and should not be used. The usefulness and application of all approaches and technologies will be illustrated using data from ongoing biological studies at the National Proteomics Centers, with a special emphasis on studies using genetic model systems and disease studies.

10:00 AM Proteomics: Why should geneticists care? S. E. Old, Division of Cardiovascular Diseases, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.

10:15 AM Proteome separation and fractionation of biological samples. J. Van Eyk, Deptment of Medicine, Division of Cardiology, The Johns Hopkins University, Baltimore, MD.

10:40 AM Comprehensive characterization and quantification of cellular proteomes. M. Olivier, Human and Molecular Genetics Center, Department of Physiology, Medical College of Wisconsin, Milwaukee.

11:05 AM Data analysis and bioinformatics tools for proteomics. E. Deutsch, Institute for Systems Biology, Seattle, WA.

Wednesday, October 24 10:00 AM–11:30 AM

Concurrent Education Sessions II (6–8)

SESSION 7 – The Scientist's Role in Improving Genetic Education and Awareness

Room 28

Co-Moderators: Adam M. Hott, Southern Connecticut State University, New Haven; and Neil Lamb, Hudson Alpha Institute for Biotechnology, Huntsville, AL

Having both genetics content knowledge and the ability to utilize that knowledge in personal and civic situations is important for scientists and nonscientists alike. We, as geneticists, are in a unique position to provide the public, our trainees and our colleagues with the information and tools to achieve this genetic literacy. While each target audience requires distinct educational and training interventions, each must have the expertise of practicing geneticists to achieve success. This educational session will highlight ongoing geneticist-led educational programs for the general public, graduate students, genetic counselors and clinicians, and offer ideas and concepts attendees can incorporate in their local settings.

10:00 AM Introduction. A. M. Hott, Southern Connecticut State University, New Haven.

10:05 AM Global momentum in genetic counselor education. J. R. Edwards, University of South Carolina, Columbia.

10:25 AM Beyond basic science: Expanding graduate training through the Med-Into-Grad Initiative. A. Wynshaw-Boris, University of California-San Diego, La Jolla.

10:45 AM Genetics education and the health professional. J. McInerney, National Coalition for Health Professional Education in Genetics, Lutherville, MD.

11:05 AM The citizen scientist: The role of scientists in their communities. F. S. Collins, National Human Genome Research Institute, Bethesda, MD.

11:25 AM Questions and answers. N. Lamb, Hudson Alpha Institute for Biotechnology, Huntsville, AL.

Wednesday, October 24 10:00 AM–11:30 AM

Concurrent Education Sessions II (6–8)

SESSION 8 – Designing Geneticists: Study Design Issues in Population-based Genetics and Genomics Research

Room 20D

Moderator: Emily L. Harris, National Human Genome Research Institute, Bethesda, MD

Study design is a critical aspect of any research project. The study’s purpose drives study design, influenced by practical issues. Genetic/genomic research increasingly uses population-based designs, such as case-control genome-wide association studies, to study genetic susceptibility to common conditions and genetic influences on quantitative traits. Epidemiologic studies of such conditions now commonly include DNA collection, and genetic information as part of the analyses. To effectively design and interpret such studies, knowledge of basic study design is critical as is an understanding of complications that genetic data introduce into such studies. Crucial design decisions include case or outcome definition, control or comparison group definition, measurement methods, and statistical analysis approach. Internal validity is imperative, and methods for assessing potential biases desirable. In this session, we will discuss: basic study design choices and rationale; designs to maximize internal validity and external validity; gene-environment interaction; and how to look for and minimize bias.

10:00 AM Introduction. E. L. Harris, Population Genomics, National Human Genome Research Institute, Bethesda, MD.

10:05 AM Case-control and cohort study designs. M. Szklo, Department of Epidemiology, Bloomberg School of Public Health, The Johns Hopkins University, Baltimore, MD.

10:25 AM Maximizing internal and external validity in epidemiology studies. R. N. Hoover, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.

10:45 AM Evaluating potential bias in and interpreting results from epidemiologic designs. T. A. Manolio, Population Genomics, National Human Genome Research Institute, Bethesda, MD.

11:05 AM Evaluating potential bias in and interpreting results from epidemiologic designs for genome-wide genotyping studies. E. M. Wijsman, Division of Medical Genetics and Department of Biostatistics, University of Washington, Seattle, WA.

11:25 AM Questions and answers. E. L. Harris, Population Genomics, National Human Genome Research Institute, Bethesda, MD.

Wednesday, October 24 10:00 AM–11:30 AM

Concurrent Social Issues Sessions II (9–10)

SESSION 9 – Genomic Profiling: The Good, the Bad, and the Unknown!

Room 20A

Co-Moderators: Katrina A. B. Goddard, Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH; and Linda Bradley, National Office for Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA

Translating the wealth of information generated by the human genome project and related efforts to products that benefit the public’s health is a primary goal of these labors, but significant challenges remain. Beyond the initial discovery of genotype-phenotype associations, substantial work is involved in successful integration into public health practice. Given the small contributions and numerous loci that may influence complex diseases, genomic profiling (i.e., genetic tests involving multiple markers) is a promising strategy for incorporating discoveries into population-based applications including population screening, predictive testing, and pharmacogenomic testing. A growing number of emerging tests are already available, including some offered directly to consumers (e.g., nutrigenomic profiling). We will discuss the need for well designed studies to evaluate such tests, as well as issues in formulating public policy on the use of genomic profiling. Finally, we will provide perspective on the potential importance of model projects to patients and consumers.

10:00 AM Introduction. K. A. Goddard, Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH.

10:05 AM Multiple genomic tests in a clinical setting. G. E. Palomaki, Institute for Preventive Medicine, Gray, ME.

10:30 AM Combining results from multiple genomic tests: what will be the predictive value? A. J. Jannsens, Department of Public Health, Erasmus MC University Medical Centre, Rotterdam, Netherlands.

10:55 AM Public policy and oversight implications for genomic profiling. G. Javitt, Genetics and Public Policy Center, Washington, DC.

11:20 AM Questions and answers. L. Bradley, National Office for Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA.

Wednesday, October 24 10:00 AM–11:30 AM

Concurrent Social Issues Sessions II (9–10)

SESSION 10 – DNA as Unique Identifier: Privacy, Trust, and the Future of Genomic Biorepositories

Room 30

Co-Moderators: Barbara A. Koenig, Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN; and Georgia Wiesner, Department of Genetics and the Center for Human Genetics, Case Western Reserve University, Cleveland, OH

For the promise of individualized genomic medicine to be fulfilled, large-scale, longitudinal studies linking human DNA with detailed phenotypic data are needed. Rapid technical change allows biorepositories to include ever more finely-detailed genetic information about human subjects. Current policies dictate that databases be widely shared among researchers, raising unique ethical and policy concerns about the adequacy of existing privacy protections. Controversy surrounding data-sharing policies centers on whether DNA can be de-identified, as it is the “ultimate identifier.” We will discuss ways in which information stored in genomic databases can be linked with other electronic databases and the resultant social and ethical concerns, especially for research on sensitive topics such as addiction. The impact of new and future technological developments on privacy will be discussed. Attempts to address these concerns from a bioinformatics perspective will be explored. Finally, challenges for federal policy will be critically examined.

10:00 AM Introduction. G. Wiesner, Department of Genetics and the Center for Human Genetics, Case Western Reserve University, Cleveland, OH.

10:05 AM Federal Policy Challenges in the Era of Identifiable Genetic Information. A. L. McGuire, Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.

10:20 AM Research Regulators’ Concerns with Access to and Use of Open-Source Genetic Research Data. L. G. Dressler, Dept of Bioethics, Case Western Reserve University, Cleveland, OH.

10:35 AM Supporting Genotype-Phenotype Studies while Guaranteeing Patient Privacy: Social and Technical Challenges for Pharmacogenomics. R. B. Altman, Department of Genetics, Stanford University Medical Center, Stanford, CA.

10:50 AM Identifiability in Genome Research: A Participant’s Perspective. K. P. Battle, Genetic Alliance, Princeton, NJ.

11:05 AM Questions and answers. B. A. Koenig, Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN.

Wednesday, October 24 1:00 PM–1:30 PM

SESSION 11 – Presidential Address: Who Is Under the Umbrella - and Why Are We Here?

Hall H

Wylie Burke
ASHG President
University of Washington School of Medicine, Seattle

At the core of The American Society of Human Genetics is the idea that a better understanding of human genetics will benefit us all. The majority of our members pursue research intended to expand our understanding of human biology and disease. We value the intellectual challenges of our work, but we also hope to use new genetic knowledge to improve people’s lives. In the wake of the Human Genome Project, there is much reason to be optimistic about this goal, and our annual meeting has become an opportunity to celebrate the extraordinary progress of in our field.

Accompanying the progress are growth and challenges. Our Society has expanded remarkably over the past decade, with a growing diversity in member interests and disciplinary backgrounds. The primary affiliation of our members ranges from medical schools and research universities to commercial companies, foundations, community-based healthcare facilities, and local, state and federal governments. About 7% of our members list ethics, social, legal, and policy issues as their primary interest area, 4% list public health genetics, and 2% list DNA forensics. These statistics point to the growing societal importance of human genetics. Another indicator is our Society’s support of policy initiatives, including policy statements on topics such as direct-to-consumer testing, support of legislation banning genetic discrimination, and joint efforts with NHGRI and CDC to create policy-oriented fellowships. These activities help to ensure that policies affecting human genetics are informed by accurate scientific knowledge. They also require us to expand our ability to communicate across barriers of discipline and perspective.

Moving forward, we need to be sure our umbrella is big enough to make room for everyone who shares our vision. For the past two years, our Society has extended a special welcome to advocates for families living with genetic disease. Our educational programs have sought to reach out to students from diverse backgrounds, and to provide assistance to teachers working in poorly resourced classrooms.

Are we doing enough? Research will remain the core of our Society, but assuring the best from our research requires more than scientific discipline. We need to find and encourage talented students, develop meaningful ways to work in partnership with research participants, and expand the scope of our research to assure effective and safe translation of genetic knowledge into societal benefit. These challenges represent the next wave of opportunity for our Society.

Wednesday, October 24 1:30 PM–3:30 PM

SESSION 12 – Plenary Abstract Presentations

Hall H

Co-Moderators: Elizabeth R. Hauser, Duke University, Durham, NC; and Wylie Burke, University of Washington, Seattle

1/1:30 Comparative sequence analysis of primate subtelomeres. K. Rudd, R. Endicott, C. Friedman, M. Walker, J. Young, K. Osoegawa, R. Blakesley, P. de Jong, E. D. Green, B. Trask.

2/1:50 Large-scale evaluation of polymorphisms in predicted microRNA binding sites reveal effect on mRNA expression levels. M. Jain, F. Pettersson, J. M. Taylor, J. L. Min, J. C. Barrett, J. Broxholme, M. I. McCarthy, K. T. Zondervan, L. R. Cardon, C. M. Lindgren.

3/2:10 Identification of a novel gene responsible for Charcot-Marie-Tooth disease (CMT4J). C. Y. Chow, Y. Zhang, J. J. Dowling, N. Jin, M. Adamska, K. Shiga, K. Szigeti, M. E. Shy, J. Li, X. Zhang, J. R. Lupski, L. S. Weisman, M. H. Meisler.

4/2:30 Bezafibrate cures clinical and metabolic symptoms of the muscular form of CPT2 deficiency. F. Djouadi, J. Bastin, P. Laforet, F. Aubey, A. Mogenet, S. Romano, A. Vassault, S. Gobin, B. Eymard, J. L. Bresson, J. P. Bonnefont.

5/2:50 Genetic and functional characterization of BRCA1 and BRCA2 variants of uncertain significance. D. Goldgar, D. Easton, S. Tavtigian, C. Frye, M. Agarwal, D. Farrugia, F. Couch.

6/3:10 Joint genome-wide analysis of 3200 Crohn disease patients documents more than 20 significant associations. M. J. Daly on behalf of Crohn's Disease GWA Meta-analysis Working Group.

Wednesday, October 24 3:30 PM–4:30 PM

SESSION 13 – The Peter and Patricia Gruber Foundation Awards

Hall H

Rosalind Franklin Young Investigator Award

A $75,000 award will be presented to Molly Przeworski, University of Chicago. This award, given for the first time three years ago, is for a young woman geneticist who is in her first three years of an independent faculty position in any area of genetics. The award honors the groundbreaking contributions of Dr. Rosalind Franklin, and is designed to inspire and support a new generation of women in the field of genetics.

Gruber Genetics Prize

Maynard V. Olson, University of Washington, Seattle

A gold medal and a $500,000 prize will be presented to Maynard V. Olson, professor of Genome Sciences and Medicine at the University of Washington. The prize honors leading scientists for distinguished contributions in any realm of genetics research.

Maynard V. Olson is a founder of the field of genomics.

Olson created tools critical to each step of human genome sequencing as it developed from dream to reality. Then, through his articulate advocacy of high standards for accuracy and of free public access to data, he worked to ensure that DNA information is used to benefit humanity.He used DNA sequence polymorphisms to connect functional genes with their physical locations. He made the first physical map of an entire eukaryotic genome, that of budding yeast. He invented the first practical system for cloning large segments of genomes and measuring their size. He introduced the now-universal common language for ordering and comparing genomic segments based on short stretches of unique sequence.

These techniques brought to fruition the convergence of genetic and physical mapping of the human and other genomes and laid the intellectual and practical groundwork for genomics.

Dr. Olson will give the 2007 Gruber lecture:

Two Ghosts of the Genome

Genomics now has enough of a history to allow some inferences about how the field advances.

From the perspective of my own experiences over the past 30 years, I will trace the development of genomics, and its interactions with genetics, from its roots in the development of recombinant-DNA techniques in the 1970s to the successful completion of the Human Genome Project in 2004.

Based on the field's past dynamics, I will then speculate on its future course with an emphasis on the scientific opportunities that new developments in genomics are creating in human genetics.

Past Laureates of the Gruber Genetics Prize:
2006: Elizabeth H. Blackburn, for her studies of telomeres and telomerase, and her science advocacy
2005: Robert H. Waterston, for his pivotal role in the Human Genome Project
2004: Mary-Claire King, for three major findings in modern genetics: the similarity of the human and chimpanzee genomes; finding a gene that predisposes to breast cancer; and forensic genetics
2003: David Botstein, for establishing the ground rules for human genetic mapping
2002: H. Robert Horvitz, for defining genetic pathways responsible for programmed cell death
2001: Rudolf Jaenisch, for advancing the study of human disease by creating the first transgenic mouse

Maynard Olson was chosen to win the 2007 Prize by a distinguished advisory panel that included:
Elizabeth H. Blackburn
David Botstein
Uta Francke
H. Robert Horvitz
Mary-Claire King
Leena Peltonen-Palotie
Robert H. Waterston

Nominations for the 2008 prizes are now open and close on December 31, 2007.For further information about the Gruber Foundation’s prizes, please visit http://www.gruberprizes.org

Wednesday, October 24 8:00 PM–10:00 PM

SESSION 14 – Trainee Program: Can I Get There from Here? Different Career Paths for Scientists

Room 28

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

A keynote address will provide insight into the process of negotiations when you are considering a new position, no matter what field you are pursuing. Members of the biotechnology, patent law, clinical diagnostic, academic research, science policy and journalism communities will describe what it takes for PhD recipients to be successful in different scientific careers. Finally, a networking session will be open to all participants to discuss these careers and others in more detail over cocktails and dessert. The event is limited to 250 attendees.

8:00 PM–9:00 PM

Opening Remarks: J. Lawrence Merritt II, MD, Children's Hospital and Regional Medical Center, University of Washington School of Medicine; and Chair, ASHG Ad Hoc Professional Development Committee.

Keynote Address: Negotiation Skills for Scientists. Joann Boughman, Executive Vice President, The American Society of Human Genetics, Bethesda, MD.

Career Panel: A group of five PhDs who have pursued a variety of different career paths, including academia, biotechnology, clinical diagnostics, public health and law, will introduce their careers and the paths they took to get there.

M. Richard Shen, Senior Director of Array Biochemistry, Illumina, San Diego, CA - Biotechnology

John Moran, Associate Professor, University of Michigan Medical School, Ann Arbor - Academic Research

David Ledbetter, Professor, Emory University School of Medicine, Atlanta, GA - Clinical Diagnostics

Muin Khoury, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA - Public Health

Frederick Bieber, Professor, Brigham & Women's Hospital, Boston, MA - Forensics Research

9:00 PM–10:00 PM

Networking reception on the Plaza Terrace with representatives from industry, academia, law, forensics, education, scientific societies, public health, science policy, science writing, genetic counseling and other fields. Bring your business card!

Reception to follow on Plaza Terrace.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 15 – Fragile X: From Bench to Population

Hall H

Co-Moderators: Flora Tassone, University of California, Davis; and Elizabeth M. Berry-Kravis, Rush University Medical Center, Chicago, IL

7/8:00 Fragile X mental retardation protein deficiency leads to spontaneous mGluR5-dependent internalization of AMPA receptors. M. Nakamoto, V. Nalavadi, M. P. Epstein, U. Narayanan, G. J. Bassell, S. T. Warren.

8/8:15 Genetic interaction between the fragile X mental retardation protein and Brachyury during mammalian embryonic development. R. Alisch, P. Jin, M. Epstein, T. Caspary, S. Warren.

9/8:30 FMR4: a Novel Primate-Specific Transcript Silenced in Fragile X Syndrome. A. Khalil, M. Faghihi, F. Modarresi, C. Wahlestedt.

10/8:45 Penetrance of dementia in male carriers of the FMR1 premutation. S. Jacquemont, M. Sevin, Z. Kutalik, P. Damier, M. Verceletto, P. Renou, P. Boisseau, S. Bergmann, J. M. Rival, J. S. Beckmann.

11/9:00 Identification of novel small molecules suppressing rCGG-repeat-mediated neuronal toxicity. A. Qurashi, H. Liu, P. Jin.

12/9:15 GABA agonists rescue morphological, biochemical and behavioral phenotypes of the Drosophila model of fragile X syndrome. S. Chang, S. M. Bray, D. C. Zarnescu, P. Jin, S. T. Warren.

13/9:30 Genetic mechanisms of trinucleotide repeat instability in Drosophila. J. Jung, N. M. Bonini.

14/9:45 Access to Credible Genetics Resources Network. S. Terry, M. Weaver, K. Reed, H. Ferguson, C. Constantin, A. Vatave, C. Greene, A. Gepp, K. Clapp, P. Furlong, J. McInerney, M. Blitzer.

15/10:00 Fragile X syndrome newborn detection: Pilot study. R. Saul, M. Friez, K. Eaves, G. Stapleton, J. Collins, R. Stevenson.

16/10:15 Offering carrier screening for fragile X syndrome to non-pregnant women. S. Metcalfe, A. Archibald, J. Cohen, V. Collins, A. Henry, A. Jaques, K. McNamee, L. Sheffield, H. Slater, S. Wake.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 16 – Autoimmunity and Genetic Associations

Room 20A

Co-Moderators: Mark Daly, Massachusetts General Hospital, Boston; and Silke Schmidt, Duke University, Durham, NC

17/8:00 Genome-wide association scan identifies new susceptibility loci for psoriatic arthritis and psoriasis. P. Y. Liu, C. Helms, J. Gardner, A. Perlmutter, A. Miner, S. Duan, R. Donaldson, C. Wise, P. Kwok, W. Liao, N. L. Saccone, J. Worthington, A. Barton, A. Menter, A. M. Bowcock.

18/8:15 A common copy number variant (CNV) associated with psoriasis. R. Cid, L. Armengol, E. Ballana, M. Garcia, R. Pujol, X. Estivill.

19/8:30 High density SNP screening of the major histocompatibility complex (MHC) in systemic lupus erythematosus (SLE) families demonstrates strong evidence for independent susceptibility regions. L. F. Barcellos, S. L. Clark, P. P. Ramsay, H. Quach, M. F. Seldin, J. B. Harley, K. Moser, T. W. Behrens, P. Gaffney, L. A. Criswell.

20/8:45 Mutations in the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. M. Lee-Kirsch, M. Gong, D. Choudhury, L. Senenko, K. Engel, Y. Lee, U. de Silva, T. Witte, T. J. Vyse, J. Kere, C. Pfeiffer, S. Harvey, S. Koskenmies, K. Rohde, A. F. Dominiczak, M. Gahr, T. Hollis, F. W. Perrino, J. Lieberman, N. Hubner.

21/9:00 Whole Genome Association Study Identifies Novel Risk Alleles for Multiple Sclerosis. J. L. Haines for The International Multiple Sclerosis Genetics Consortium.

22/9:15 Fine mapping of a risk gene for multiple sclerosis. D. Reich, N. Patterson, P. L. De Jager, A. Tandon, S. McCarroll, A. Waliszewska, J. Neubauer, C. Schirmer, R. R. Lincoln, S. Poduslo, O. Khan, S. L. Hauser, J. R. Oksenberg, D. A. Hafler.

23/9:30 On the identification of causal genetic effects in family-based association studies. C. Lange, S. Goetgeluk, I. Waldman, S. T. Weiss, S. VanSteelandt.

24/9:45 Candidate Genes for Asthma and Atopy. D. Daley, M. Lemire, P. D. Paré, A. J. Sanford, A. L. Kozyrskyj, C. Laprise, Y. Bosse, A. Motpetit, A. Becker, D. Zamar, B. Tripp, J. He, K. Tremblay, A. James, A. W. Musk, L. J. Palmer, T. J. Hudson.

25/10:00 Genome-Wide Association Study (GWAS) Reveals a Novel Gene for Immunoglobulin E (IgE) Levels and Asthma. Z. Tan, Y. Sun, L. Pan, R. Nicolae, S. Kudaravalli, A. Heinzmann, T. Kurz, J. E. Gern, R. F. Lemanske, Jr., K. A. Deichmann, J. K. Pritchard, D. Nicolae, A. I. Sperling, C. Ober.

26/10:15 Large scale replication of a genome-wide association study in celiac disease. K. A. Hunt, L. Franke, R. G. William, A. Zhernakova, M. Inouye, W. McLaren, R. McManus, R. McGinnis, L. R. Cardon, P. Deloukas, C. Wijmenga, D. A. van Heel.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 17 – Statistical Analysis of Genome-Wide Association Studies

Room 20B/C

Co-Moderators: Glen Satten, Centers for Disease Control and Prevention, Atlanta, GA; and Sanjay S. Shete, M. D. Anderson Cancer Center, Houston, TX

27/8:00 A Bayesian multipoint allele sharing method for genome-wide studies. Z. Su, P. Donnelly, J. Marchini.

28/8:15 Analysis of Whole-Genome Data by Homozygosity Mapping and Adjustments for Relatedness. B. F. Voight, D. Altshuler, M. J. Daly, representing the Diabetes Genetics Initiative.

29/8:30 Simultaneous analysis of genome-wide SNP data and candidate region sequence data. C. J. Hoggart, J. C. Whittaker, M. De Iorio, D. J. Balding.

30/8:45 Efficient and Flexible Testing of Untyped Variants in Case-Control Studies. M. P. Epstein, A. S. Allen, G. A. Satten.

31/9:00 Genetic similarity matching for genome-wide association studies. W. Guan, L. Liming, G. R. Abecasis, M. Boehnke.

32/9:15 Powerful Bayesian gene-gene interaction analysis. T. Ferreira, P. Donnelly, J. Marchini.

33/9:30 Estimating significance thresholds for genomewide association scans. F. Dudbridge, A. Gusnanto.

34/9:45 A general approach to combining genomewide association datasets. J. C. Barrett, S. Purcell, M. J. Daly, L. R. Cardon.

35/10:00 Fast and highly accurate haplotype inference for genome-wide datasets. B. N. Howie, J. L. Marchini, P. Donnelly.

36/10:15 Rapid and accurate haplotype phasing and missing data inference for whole genome association studies using localized haplotype clustering. S. R. Browning, B. L. Browning.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 18 – Genomics

Room 20D

Co-Moderators: Stanley F. Nelson, UCLA Medical Center, Los Angeles, CA; and Michael E. Zwick, Emory University School of Medicine, Atlanta, GA

37/8:00 EURExpress, a web-based transcriptome atlas of the developing mouse embryo. G. Diez-Roux, The EURExpress Consortium.

38/8:15 Nonsense-mediated mRNA decay modulates cellular fate in response to DNA damage. D. Huang, F. Spencer, H. C. Dietz.

39/8:30 Pooled heteronuclear RNA sequencing: a new tool for large-scale cis-acting regulatory haplotype discovery. T. Pastinen, E. Grundberg, K. Lam, B. Ge, S. Gurd, N. Martin, E. Harmsen, T. Kwan, J. Majewski.

40/8:45 Genome-wide analysis of transcript isoform variation in humans. T. Kwan, D. Benovoy, C. Dias, S. Gurd, C. Provencher, T. J. Hudson, R. Sladek, J. Majewski.

41/9:00 Copy number variations and gene expression in the mouse. A. Reymond, C. Henrichsen, N. Vinckenbosch, E. Chaignat, S. Zoellner, H. Kaessmann.

42/9:15 Genome-wide mapping and sequencing of Structural Variation using High-Resolution Paired-End Mapping (HR-PEM). A. E. Urban, J. O. Korbel, J. Affourtit, F. Grubert, P. Kim, B. Taillon, D. Palejev, N. Carriero, L. Du, B. Godwin, J. Simons, J. Chi, F. Yang, M. Hurles, N. Carter, S. Weissman, T. Harkins, M. Gerstein, M. Egholm, M. Snyder.

43/9:30 Advances in Sequencing Technology : enabling and Expanding Applications in Human and Cancer Genetics. S. B. Gabriel, C. Russ, J. Baldwin, C. Sougnez, S. Fisher, P. Cahill, R. Onofrio, R. Nicol, T. Bloom, K. Cibulskis, W. Brockman, P. Alvarez, D. B. Jaffe, D. Altshuler, C. Nusbaum, E. S. Lander.

44/9:45 Complete genome sequencing to high coverage of a single individual: James Watson. D. A. Wheeler, M. E. Egholm, M. Srinivasan, A. L. McGuire, W. He, L. V. Nazareth, Y. Huan, Y. Liu, J. R. Lupski, D. M. Muzny, G. M. Weinstock, R. A. Gibbs.

45/10:00 Microarray-based Direct Genomic Selection for High Throughput Resequencing. M. E. Zwick, K. Meltz-Steinberg, C. Middle, T. Albert, D. Okou.

46/10:15 The pattern of RET mutations and variants in Hirschsprung disease: a medical sequencing case study. L. Hao, S. Arnold, J. Albertus, M. Dao, A. Rea, P. Cruz, J. Mullikin, A. Young, E. D. Green, A. Chakravarti.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 19 – Metabolic Disorders

Room 28

Co-Moderators: Joel Charrrow, Childrens Memorial Hospital, Chicago, IL; and Nicola Longo, University of Utah, Salt Lake City

47/8:00 Clinical and Molecular Analysis of Arylsulfatase E in Patients with Brachytelephalangic Chondrodysplasia Punctata. N. Braverman, C. Matos, M. Maeda, L. Chen, J. Allanson, C. Armour, C. Greene, M. Kamaluddeen, D. Rita, L. Medne, E. Zackai, S. Mansour, A. Superti-Furga, A. Lewanda, M. Bober, K. Rosenbaum, M. Nino.

48/8:15 A novel form of cerebellar ataxia with increased free sialic acid in cerebrospinal fluid. F. Mochel, F. Sedel, U. F. H. Engelke, J. Barritault, E. Morava, M. Timmons, F. Seguin, A. Brice, R. Schiffmann, A. Durr, R. A. Wevers.

49/8:30 Saposin B deficiency in mice leads to multiple glycosphingolipids accumulation and slowly developing neurological deficit. Y. Sun, H. Ran, M. Zamzow, B. Quinn, M. T. Williams, C. V. Vorhees, D. P. Witte, H. Cheng, X. Han, G. A. Grabowski.

50/8:45 Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. C. Auray-Blais, D. Cyr, A. Ntwari, M. L. West, J. Cox-Brinkman, D. G. Bichet, D. P. Germain, R. Laframboise, S. B. Melançon, T. Stockley, J. T. R. Clarke, R. Drouin.

51/9:00 In Chediak-Higashi syndrome melanocytes, giant melanosomes do not target to the dendritic tip's actin network. W. Westbroek, A. Helip Wooley, H. Dorward, W. A. Gahl.

52/9:15 Up-regulation of ARH1 in Galactose-stressed, Isogenic Human Fibroblasts deficient in Galactose-1-phosphate Uridyltransferase. K. Lai, M. Tang, X. Yin, H. Klapper, K. Wierenga, L. J. Elsas.

53/9:30 A silent substitution in the MCAD gene causes exon 2 skipping by disruption of a crucial SRp40 binding exonic splicing enhancer which is fundamental for MCAD gene expression. B. S. Andresen, A. V. Jensen, L. D. Schroeder, E. Naylor, L. Halaby, C. A. Stanley, N. Gregersen.

54/9:45 Deciphering Synergistic Heterozygosity in the Fatty Acid Oxidation Pathway. K. M. Griffin, S. Ji, D. Matern, P. Rinaldo, J. D. Sharer, T. R. Schoeb, J. Vockley, P. A. Wood.

55/10:00 Apoptosis inducing effects of the signal sequence mutation in preproparathyroid hormone explains autosomal dominant familial isolated hypoparathyroidism and is corrected by a chemical chaperone. R. Datta, A. Waheed, G. N. Shah, W. S. Sly.

56/10:15 High frequency of uroporphyrinogen decarboxylase gene mutations in sporadic porphyria cutanea tarda patients. K. H. Astrin, I. Nazarenko, E. Gehrie, K. E. Anderson, C. Lee, M. Yasuda, R. J. Desnick.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 20 – Perinatal and Reproductive Genetics

Room 29

Co-Moderators: Susan J. Gross, Albert Einstein School of Medicine, New York; and Deborah Krakow, Cedars-Sinai Medical Center, Los Angeles, CA

57/8:00 Maternal Cigarette Smoking, Metabolic Gene Polymorphisms, and Preterm Delivery: new Insights on GxE Interactions and Pathogenic Pathways. H.-J. Tsai, X. Liu, K. Mestan, X. Yu, S. Zhang, C. Pearson, K. Ortiz, B. Zuckerman, H. Bauchner, S. Cerda, P. Stubblefield, X. Xu, X. Wang.

58/8:15 A Large Scale High-throughput Candidate Gene Association Study of Preterm Birth. D. R. Velez, R. Menon, P. Thorsen, S. M. Williams, S. J. Fortunato.

59/8:30 Racial differences in genetic association of cytokine concentrations in the presence and absence of bacterial vaginosis. K. K. Ryckman, M. A. Krohn, H. N. Simhan, S. M. Williams.

60/8:45 Whole genome analysis identifies a susceptibility locus to HIV-1. S. Deutsch, C. Loeuillet, A. Ciuffi, D. Robyr, M. Munoz, P. Taffé, M. Rotger, J. S. Beckmann, S. E. Antonarakis, A. Telenti.

61/9:00 Insight on the role of maternal age and recombination in chromosome 21 nondisjunction. T. Oliver, E. Feingold, K. Yu, S. Sherman.

62/9:15 Testing models of human aneuploidy: age-related variation in recombination in trisomic meioses. H. Hall, U. Surti, T. Hassold.

63/9:30 Down Syndrome: genomic analyses link genes for GI malformation and leukemia. T. Tirosh-Wagner, J. O. Korbel, A. E. Urban, X.-N. Chen, M. Snyder, J. R. Korenberg.

64/9:45 An Intragenic Genomic Duplication Resulting in Loss of Function and other Novel Mutations in NLRP7 in Women with Recurrent Biparental Hydatidiform Moles. Y. Kou, L. Shao, R. Rosetta, D. del Gaudio, H. Peng, T. Al-Hussaini, I. Van den Veyver.

65/10:00 Gastroschisis and Genitourinary Infections. M. L. Feldkamp, L. D. Botto, J. Reefhuis, J. Kucik, S. Krikov, A. Wilson, C. Moore, J. C. Carey.

66/10:15 Genetic Screening of Usher Syndrome in Children. W. J. Kimberling, R. J. H. Smith, E. M. Stone, R. G. Weleber, C. Moller, C. Carney, M. Jensen, K. Trzupek.

Thursday, October 25 8:00 AM–10:30 AM

Concurrent Platform Sessions I (15–21)

SESSION 21 – Cancer Genetics and Cytogenetics

Room 30

Co-Moderators: Luca Roz, Instituto Nazionale Tumori, Milan, Italy; and Andrew Carroll, University of Alabama, Birmingham

67/8:00 The human Y-encoded testis-specific protein (TSPY) interacts functionally with the eukaryotic translation elongation factor 1A (eEF1A), a putative oncoprotein. Y. Lau, T. Kido.

68/8:15 MicroRNA profiling in hypoxia identifies HSA-MIR-210 as an independent prognostic predictor in breast cancer. C. Camps, F. Buffa, S. Colella, J. Moore, H. Sheldon, A. L. Harris, J. Gleadle, J. Ragoussis.

69/8:30 Identification of a clinical and biological role for TGIF in leukemogenesis and hematopoiesis. R. Hamid, J. Patterson, S. Brandt.

70/8:45 Heritability of susceptibility to ionizing radiation induced apoptosis of human lymphocyte subpopulations. A. Schmitz, J. Bayer, N. Dechamps, L. Goldin, G. Thomas.

71/9:00 Molecular mapping of the 12q13-15 amplicon and identification of new target oncogenes in well-differentiated liposarcomas. L. Bianchini, A. Italiano, F. Keslair, F. Pedeutour.

72/9:15 Defective chromosome segregation and telomere dysfunction in aggressive Wilm tumors. Y. Stewénius, Y. Jin, I. Øra, A. Frigyesi, J. Alumets, B. Sandstedt, A. K. Meeker, D. Gisselsson.

73/9:30 The leukemogenic CALM/AF10 fusion protein alters the subcellular localization of the lymphoid regulator Ikaros. P. A. Greif, B. Tizazu, A. Krause, E. Kremmer, S. K. Bohlander.

74/9:45 Cryptic Xq duplications in ETV6/RUNX1-positive acute lymphoblastic leukemia. H. Lilljebjörn, M. Heidenblad, B. Nilsson, C. Lassen, A. Horvat, J. Heldrup, M. Behrendtz, B. Johansson, A. Andersson, T. Fioretos.

75/10:00 Detection of balanced translocations by DNA microarrays. C. C. Lau, C. Davis, P. Rao, R. Selzer, P. Eis.

76/10:15 Accelerating genome and tumor research with Single Cell Arrays. H. Weier, J. F. Weier, S. Baehring, J. Laubenthal.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 22 – Pathways of Brain Development: Genetic and Phenotypic Characterization of Malformations of Cortical and Cerebellar Development

Room 29

Co-Moderators: Eva Andermann, Neurogenetics Unit, Montreal Neurological Hospital & Institute, Montreal, Quebec, Canada; and Christopher Walsh, Division of Genetics, Boston Children's Hospital, Boston, MA

Malformations of cortical development (MCD) present clinically with developmental disability and mental retardation, epilepsy,and behavioural disorders. MCD were previously believed to result from complex or multifactorial inheritance, and to be related to various extrinsic environmental factors during development. In the past decade, a number of single gene disorders particularly involving stem cell profileration, brain patterning, and neuronal migration have been identified, and the genes have been mapped or cloned. These include lissencephaly('smooth brain'), subcortical band heterotopia or double cortex syndrome, periventricular nodular heterotopia and schizencephaly. This session will describe the clinical and radiological features and the genes and loci involved in the various forms of MCD as well as in Joubert syndrome and related cerebellar malformations. Studies of the inter-relationship of the various genes involved in developmental pathways related to neuronal migration will also be discussed.

11:00 AM Introduction. W. Dobyns, Department of Human Genetics, University of Chicago, IL.

11:10 AM Genes that influence the size and shape of the cerebral cortex. C. Walsh, Division of Genetics, Boston Children's Hospital, Boston, Massachusetts.

11:30 AM Lissencephaly and subcortical band heterotopia. W. Dobyns, Department of Human Genetics, University of Chicago, IL.

11:50 AM Periventricular nodular heterotopia and related syndromes. B. Chang, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

12:10 PM Polymicrogyria syndromes and schizencephaly. E. Andermann, Neurogenetics Unit, Montreal Neurological Hospital & Institute, Montreal, Quebec, Canada.

12:30 PM Joubert syndrome and related cerebellar malformations. J. Gleeson, Dept. of Neurosciences, University of California, La Jolla.

12:50 PM Questions and answers. E. Andermann, Neurogenetics Unit, Montreal Neurological Hospital & Institute, Montreal, Quebec, Canada.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 23 – Is Linkage Dead? The Future of Linkage Analysis and Family Data in the Genome-wide Association Era

Room 20A

Co-Moderators: Kathryn L. Lunetta, Biostatistics, Boston University School of Public Health, Boston, MA; and Josée Dupuis, Biostatistics, Boston University School of Public Health, Boston, MA

Now that genome-wide association studies have become a reality, what role will linkage analysis and family data play in the identification genes influencing complex traits in humans? Highly efficient genome-wide association technologies, combined with the HapMap and other web resources, fuel the hope that we will soon identify many genes and genetic variants contributing to common diseases and phenotypes. But will genome-wide association be more successful than genome-wide linkage, which garnered the same hopes twenty years ago with the advent of genome-wide microsatellite markers? This session will first provide an historical overview of the field and how we reached the cusp of the genome-wide association revolution. Next, speakers will present up-to-the-minute views of the utility of linkage, association, and combined approaches in the context of current high-density genome-wide SNP data in the Hutterites and the NHLBI Family Heart and Framingham Heart Studies.

11:00 AM Introduction. K. L. Lunetta, Biostatistics, Boston University School of Public Health, Boston, MA.

11:05 AM Finding genes underlying human disease: past and future. R. C. Elston, Epidemiology & Biostatistics, Case Western Reserve Univ, Cleveland, OH.

11:30 AM Genetic Studies of Complex Traits in a Founder Population. C. Ober, Department of Human Genetics, University of Chicago, IL.

11:55 AM High density SNP scans in population cohort studies with family data: the value of linkage analysis. J. Dupuis, Biostatistics, Boston University School of Public Health, Boston, MA.

12:20 PM "Linkage is dead. Long live linkage"--Using linkage evidence to inform genome-wide association scans. M. A. Province, Division of Statistical Genomics, Center for Genome Science, Washington University School of Medicine, St. Louis, MO.

12:45 PM Questions and answers. K. L. Lunetta, Biostatistics, Boston University School of Public Health, Boston, MA.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 24 – Complex Human Disease Genes: Help from Animal Models

Room 20D

Co-Moderators: John S. Satterlee, Genetics and Molecular Neurobiology Research Branch, National Institute on Drug Abuse, Bethesda, MD; and Jonathan D. Pollock, Genetics and Molecular Neurobiology Research Branch, National Institute on Drug Abuse, Bethesda, MD

The speakers in this session will illustrate the synergistic power of human/animal comparative genetic approaches in the identification of genes involved in complex human diseases. In addition there will examples of how new bioinformatic resources can be exploited to more rapidly identify genes in animal models and accelerate human studies. Dr. Beverly Paigen will discuss the use of mouse-human comparative QTL analysis to identify genes involved in atherosclerosis. Dr. Elaine Ostrander will describe approaches to identify genes involved in cancer susceptibility using human genetics with help from underutilized canine genetic resources. Dr. Lisa Tarantino will describe her studies using mouse genetic, genomic, and bioinformatic resources to identify genes involved in anxiety. Dr. Abraham Palmer will describe his research using both mouse genetics and human association studies to identify genes involved in methamphetamine sensitivity.

11:00 AM Introduction. J. D. Pollock, Genetics and Molecular Neurobiology Research Branch, National Institute on Drug Abuse, Bethesda, MD.

11:05 AM Identifying Disease Genes with Mouse-Human Comparative Genetics. B. Paigen, The Jackson Laboratory, Bar Harbor, ME.

11:30 AM Mapping Complex Traits of Concern for Humans in Dogs. E. A. Ostrander, Cancer Genetics Branch, NHGRI/NIH, Bethesda, MD.

11:55 AM The Use of Haplotype-Associated Mapping to Identify Genes for Behavior. L. Tarantino, Genomics Institute of Novartis Research Foundation, San Diego, CA.

12:20 PM Mouse QTL and Human Association Study of Methamphetamine Sensitivity. A. Palmer, Human Genetics and Psychiatry, University of Chicago, IL.

12:45 PM Questions and answers. J. D. Pollock, Genetics and Molecular Neurobiology Research Branch, National Institute on Drug Abuse, Bethesda, MD.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 25 – Challenges with Expanded Newborn Screening Using Tandem Mass Spectroscopy

Room 20B/C

Co-Moderators: Nicola Longo, Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City; and Brad L. Therrell, Department of Pediatrics, University of Texas Health Science Center, Austin

Expanded newborn screening results in challenges for all clinical geneticists, for families and for the public health system. This session will explore how increased understanding of the biochemical and molecular basis of disorders and their clinical outcomes can be applied to developing improved strategies for screening, diagnostic testing and clinical management. Using specific conditions as illustration, topics addressed will include 1) development of second tier screening to reduce false-positive rates, 2) impact of false positive screens and uncertainty, and strategies to minimize harm, 3) use of biochemical and molecular strategies after positive screen when differential diagnosis is complex, 4) public health implications of the unexpected finding of high frequency of a rare disease in an isolated population, and possibility that routine second screening is necessary to identify important conditions, and 5) the value of longitudinal studies of outcomes to determine the effect of newborn screening.

11:00 AM Introduction. B. L. Therrell, Department of Pediatrics, University of Texas Health Science Center, Austin.

11:10 AM Impact of false positive screens on the family and the system. C. L. Greene, (on behalf of the SIMD), University of Maryland, Baltimore.

11:30 AM The role of second-tier testing in reducing false-positive results in newborn screening: family and providers and strategies to minimize harm. P. Rinaldo, Lab Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN.

11:50 AM Complexity of methylmalonic acidemia: Implications for newborn screening programs. D. S. Rosenblatt, Division of Medical Genetics, MUHC Montreal General Hospital, McGill University, Montreal, Quebec, Canada.

12:10 PM Ambiguities in the diagnosis and treatment of CPT1A deficiency in Alaska Native children. D. M. Koeller, Department of Pediatrics, Oregon Health Sciences University, Portland.

12:30 PM Collaborative investigations of urea cycle disorders: The importance of research networks in the study of rare diseases. M. Tuchman, Children's National Medical Center, Children's Research Institute, Washington, DC.

12:50 PM Questions and answers.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 26 – RNA Interference and Human Disease

Hall H

Co-Moderators: Peng Jin, Department of Human Genetics, Emory University, Atlanta, GA; and Alexander Pertsemlidis, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

Small noncoding RNA guides, including microRNAs (miRNAs), small interfering RNAs (siRNAs), and repeat-associated small interfering RNAs, 21 to 30 nucleotides in length, could shape diverse cellular pathways, from chromosome architecture, development, and growth control, apoptosis to stem cell maintenance. In fact, it has been estimated that miRNAs could regulate as many as one-third of human genes. MiRNAs and the components of the RNAi pathway have been implicated in diverse human diseases. 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 from which the role of miRNAs and miRNA pathway in human diseases will be explored.

11:00 AM microRNAs as oncogenes. S. M. Hammond, Cell and Developmental Biology, University of North Carolina School of Medicine, Chapel Hill.

11:24 AM microRNAs in cancer and aging. F. Slack, Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT.

11:48 AM RNAi and L1 retrotransposition. H. Kazazian, Department of Genetics, University of Pennsylvania, Philadelphia.

12:12 PM The microRNA pathway in mental retardations. P. Jin, Department of Human Genetics, Emory University, Atlanta, GA.

12:36 PM Variation and illegitimate microRNA target sites. C. Charlier, Faculty of Veterinary Medicine, University of Liège, Belgium.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 27 – The Ciliopathies: Diverse Phenotypes, Common Mechanisms, Unexpected Functions

Room 28

Co-Moderators: Philip L. Beales, Molecular Medicine Unit, UCL Institute of Child Health, London, United Kingdom; and Nicholas Katsanis, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD

The emergence of this novel class of disease, each associated with dysfunction of primary cilia presents new clinical and molecular challenges. The rapidly growing number of entities within this category involve quite different expression patterns which probably reflect a unique combination of underlying pathway involvement such as Hedgehog signalling or planar cell polarity for which cilia have recently been implicated. This session will explore the molecular genetic background, functional and developmental biology associated with ciliopathies like Oro-Facial-Digital Type 1 syndrome (OFD1), the Bardet-Biedl syndrome (BBS), Senior-Loken syndrome (SLS), Meckel-Gruber syndrome (MKS)and Jouberts syndrome (JS). There will be a particular emphasis on how research into these and other conditions are enriching our understanding of cilia function.

11:00 AM Introduction. P. L. Beales, Molecular Medicine Unit, UCL Institute of Child Health, London, United Kingdom.

11:05 AM The genetic landscape of the ciliopathies. N. Katsanis, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD.

11:28 AM A guide to the cilium: intraflagellar transport, components and proteomics. G. Pazour, Program in Molecular Medicine, University of Massachusetts Medical School, North Worcester.

11:51 AM PCP signaling and ciliogenesis. J. B. Wallingford, Department of Molecular Cell and Developmental Biology, University of Texas, Austin.

12:14 PM Cellular biology of the cilium and consequences of dysfunction. B. K. Yoder, Department of Cell Biology, University of Alabama at Birmingham.

12:37 PM Genetics and cellular biology of nephronophthisis. G. Walz, Renal Division, University Hospital, Freiburg, Germany.

Thursday, October 25 11:00 AM–1:00 PM

Concurrent Invited Sessions I (22–28)

SESSION 28 – A Balanced Genome: X-autosome Dosage Compensation

Room 30

Co-Moderators: Jun Xu, Cummings School of Veterinary Medicine, Tufts University, North Grafton, MA; and Christine M. Disteche, Department of Pathology, University of Washington, Seattle

In organisms with XX females and XY males, dosage compensation mechanisms have evolved to ensure a balanced expression between sex-linked and autosomal genes. In males, the single X chromosome is haplo-insufficient compared with autosomes where genes are expressed from two copies. To avoid deleterious effects the transcription level of X-linked genes must roughly double. X-specific up-regulation of transcription is known to occur specifically in male Drosophila, and has also been found in mammals and in C. elegans. To avoid hyper-expression in XX individuals, X inactivation takes place in mammals while both X chromosomes are repressed in C. elegans hermaphrodites. The evolution and the mechanisms of dosage compensation, including epigenetic modifications specifically targeted to the X chromosome will be discussed. Understanding the molecular mechanisms that balance gene expression has considerable practical importance, as abnormal expression due to constitutional chromosome imbalance or acquired abnormalities can cause birth defects, mental retardation and cancer.

11:00 AM Genomics and sex in weird mammals. J. A. Graves, Research School of Biological Sciences, The Australian National University, Canberra.

11:24 AM Targeting the C. elegans dosage compensation complex to X chromosomes. B. J. Meyer, Department of Molecular/Cell Biology, HHMI, University of California, Berkeley.

11:48 AM Dosage compensation in mammals. C. M. Disteche, Department of Pathology, University of Washington, Seattle.

12:12 PM X chromosome aneuploidy and human phenotypes. A. R. Zinn, McDermott Center Human Growth/Development, University of Texas Southwest School of Medicine, Dallas.

12:36 PM Global allele-specific analyses of DNA methylation on the X chromosome and autosomes. A. Chess, Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 29 – Feeling Left Out: What Do Deletions Really Mean?

Hall H

Co-Moderators: Hope Northrup, University of Texas Medical School, Houston; and Eric J. Vilain, University of California, Los Angeles

77/2:00 A novel high resolution genome-wide method identifies over 1,500 very small deletion CNVs and triallelic SNPs. L. Franke, C. G. F. de Kovel, Y. S. Aulchenko, D. A. van Heel, L. R. Cardon, P. Deloukas, R. A. Ophoff, L. H. van den Berg, C. Wijmenga.

78/2:15 ATM gene deletion in children with TEL-AML1-positive acute lymphoblastic leukemia. M. Shago, S. H. Hong, G. Nie, M. Abdelhaleem, I. Teshima, O. Abla.

79/2:30 Dissecting clinical heterogeneity relevant to early development in autism by copy number variations. P. I. Lin, S. Yoon, K. Ye, M. Wigler, J. Sebat.

80/2:45 Novel deletion in chromosome 22 in schizophrenia patients from an internal isolate of Finland. O. P. H. Pietilainen, T. Paunio, A. Loukola, A. Tuulio-Henriksson, J. Suvisaari, T. Varilo, J. Lönnqvist, H. Stefansson, L. Peltonen.

81/3:00 Searching for genes contributing to autism in WAGR syndrome by oligo array CGH. S. Xu, J. Han, A. Morales, C. Menzie, K. Williams, Y. Fan.

82/3:15 Inferring carrier of copy number variation in Bipolar linkage region with novel Expectation-Maximization algorithm. S. Zollner, Y. Chen, G. Su, M. G. McInnis, M. Burmeister.

83/3:30 Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. B. Ballif, J. Coppinger, G. Gowans, J. Hersh, S. Madan-Khetarpal, K. Schmidt, R. Tervo, L. Escobar, C. Friedrich, M. McDonald, J. Ming, E. Zackai, B. A. Bejjani, L. G. Shaffer.

84/3:45 Molecular delineation of the 9p deletion syndrome: phenotypic diversity of a common syndrome and the search for genes. S. Schwartz, R. Anderson, S. Biton, M. Graf, H. K. Vance, D. J. Waggoner, C. A. Crowe.

85/4:00 Recurrent genomic rearrangements of 17q12 are involved in a wide range of phenotypes: renal disease, diabetes and epilepsy. H. Mefford, S. Clauin, A. Sharp, R. Moller, R. Ullmann, R. Kapur, D. Pinkel, G. Cooper, M. Ventura, H. Ropers, N. Tommerup, E. Eichler, C. Bellanne-Chantelot.

86/4:15 Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 43 cases. M. De Gregori, R. Ciccone, F. Cifuentes, P. Magini, S. Gimelli, J. R. Vermeesch, J. Messa, O. Zuffardi.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 30 – Complex Disease Mechanisms

Room 20A

Co-Moderators: Nicola J. Camp, University of Utah, Salt Lake City; and Kevin Shianna, Duke University, Durham, NC

87/2:00 Disruption of an AP-2 binding site upstream of IRF6 is commonly associated with nonsyndromic cleft lip and palate. F. Rahimov, M. J. Hitchler, F. E. Domann, A. Jugessur, R. T. Lie, A. J. Wilcox, K. Christensen, E. D. Green, M. L. Marazita, B. C. Schutte, J. C. Murray.

88/2:15 FAF1 a new gene for Cleft Palate and Pierre Robin Sequence. M. Ghassibe, L. Desmyter, O. Boute, B. Bayet, P. Pellerin, N. Revencu, H. Poirel, J. Vermeesch, L. Backx, R. Vanwijck, M. Vikkula.

89/2:30 A genome-wide association study of Kawasaki disease identifies multiple new loci validated in a family based follow-up study. D. Burgner, S. Davila, T. W. Kuijpers, S. B. Ng, W. B. Breunis, M. Levin, J. C. Burns, V. J. Wright, M. L. Hibberd, US KD Genetics Consortium.

90/2:45 A Whole Genome Scan For Polymorphisms Influencing Warfarin Dosing. M. J. Rieder, G. M. Cooper, J. D. Smith, M. H. Wong, E. A. Johanson, D. L. Veenstra, A. E. Rettie.

91/3:00 Biological and genetic interplay between the asthma susceptibility genes Neuropeptide S receptor 1 and Tenascin C. C. Orsmark-Pietras, E. Melén, J. Vendelin, M. van Hage, F. Nyberg, G. Pershagen, A. Scheynius, M. Wickman, J. Kere, and the PARSIFAL Genetics Study Group.

92/3:15 Genomic and genetic approaches identify IREB2 as a novel susceptibility gene for chronic obstructive pulmonary disease. D. L. DeMeo, T. Mariani, C. Lange, S. S. Bhattacharya, S. Srisuma, S. Shapiro, R. Bueno, E. Silverman, J. Reilly.

93/3:30 Genetic associations with ancestral differences in gene expression in the small airway epithelium in response to cigarette smoking. T. P. O'Connor, B.-G. Harvey, W. Wang, A. Clark, J. Mezey, P. Schweitzer, J. Salit, I. Dolgalev, T. Raman, N. R. Hackett, R. G. Crystal.

94/3:45 Assessing biological pathways using genome-wide association data reveals evidence for excess association of variants in the cell cycle, Wnt signaling and Adherens Junction pathways with type 2 diabetes. J. R. B. Perry, H. Lango, N. J. Timpson, E. Zeggini, R. M. Freathy, C. M. Lindgren, K. S. Elliott, N. W. Rayner, B. Shields, C. J. Groves, A. T. Hattersley, M. I. McCarthy, T. M. Frayling, M. N. Weedon.

95/4:00 Genetic and non-genetic sources of phenotypic variation in human lymphoblastoid cell-lines. R. Yelensky, E. Choy, S. Bonakdar, R. M. Plenge, P. L. De Jager, R. Saxena, E. McFarland, C. Wolfish, E. Kieff, D. A. Hafler, M. Daly, D. Altshuler.

96/4:15 Cis regulation of gene expression is an important target for selection in the human genome. S. Kudaravalli, B. E. Stranger, E. T. Dermitzakis, J. K. Pritchard.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 31 – Neurogenetics

Room 20B/C

Co-Moderators: Gaofeng Wang, University of Miami, FL; and Dana C. Crawford, Vanderbilt University, Nashville, TN

97/2:00 The mutational spectrum of the novel HSP gene REEP1 suggests haploinsufficiency and microRNA target site involvement. S. Zuchner, C. Beetz, R. Schüle, T. Deconinck, J. Beats, K. N. Trans Viet, H. Zhu, N. Nagan, T. Deufel, C. Braastad, L. Schöls, P. de Jonghe, M. Pericak-Vance.

98/2:15 Genome-wide association study of sporadic amyotrophic lateral sclerosis identifies ITPR2 as a susceptibility gene. M. A. van Es, P. W. van Vught, H. Blauw, L. Franke, C. G. J. Saris, P. M. Anderson, L. Vandenbosch, A. Birve, V. de Jong, F. Baas, H. J. Schelhaas, K. Sleegers, C. van Broeckhoven, J. H. J. Wokke, C. Wijmenga, W. Robberecht, J. H. Veldink, R. A. Ophoff, L. H. van den Berg.

99/2:30 Interactions involving nitric oxide synthase genes and environmental risk factors in Parkinson disease. D. B. Hancock, E. R. Martin, J. M. Vance, W. K. Scott.

100/2:45 Characterization and replication of a novel locus for late-onset Parkinson disease detected in a genome-wide association study in an isolated population. Z. Bochdanovits, P. Rizzu, K. Rak, L. Pardo-Cortes, P. Heutink.

101/3:00 High-density linkage screen identifies potential dementia loci in the Amish. L. Jiang, J. L. McCauley, P. J. Gallins, N. Schnetz-Boutaud, A. E. Crunk, L. L. McFarland, D. Fuzzell, C. Knebusch, M. Creason, L. Caywood, C. E. Jackson, W. K. Scott, M. A. Pericak-Vance, J. L. Haines.

102/3:15 Genome-Wide Association for Late-Onset Alzheimer Disease (LOAD) Confirms Risk locus on Chromosome 12. G. Beecham, E. Martin, Y.-J. Li, R. Carney, M. Slifer, J. Gilbert, J. Haines, M. Pericak-Vance.

103/3:30 Nonallelic variants of neuronal sortilin-related receptor (SORL1) associated with distinct Alzheimer disease (AD) processes observed by magnetic resonance imaging (MRI). K. T. Cuenco, K. L. Lunetta, L. A. Cupples, A. McKee, H. Chui, C. DeCarli, P. St. George-Hyslop, R. C. Green, C. Baldwin, L. A. Farrer, and MIRAGE Study Group.

104/3:45 Investigation of genetic susceptibility to Late-onset Alzheimer disease through genomic convergence. X. Liang, M. Slifer, E. R. Martin, N. Schnetz-Boutaud, J. Bartlett, B. M. Anderson, S. Zuchner, J. Gilbert, M. A. Pericak-Vance, J. H. Haines.

105/4:00 A major genetic risk factor of periodic limb movements and restless legs syndrome. H. Stefansson, D. Rye, A. Hicks, H. Petursson, A. Ingason, T. E. Thorgeirsson, S. Palsson, T. Sigmundsson, A. P. Sigurdsson, I. Eiriksdottir, L. M. Trotti, D. Bliwise, J. M. Beck, A. Rosen, S. Waddy, U. Thorsteinsdottir, A. Kong, J. Gulcher, D. Gudbjartsson, K. Stefansson.

106/4:15 An enhancer in the intron 2 deletion regulates DCDC2 gene expression, and is associated with dyslexia. H. Meng, J. R. Gruen, N. A. Cope, A. Citterio, G. Menozzi, M. L. Lorusso, M. Molteni, Y. Wang, J. J. LoTurco, C. Marino.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 32 – Statistical Genetics and Genetic Epidemiology

Room 20D

Co-Moderators: Michael Boehnke, University of Michigan, Ann Arbor; and Eleanor Feingold, University of Pittsburgh, PA

107/2:00 Population structure in European American populations - Impact on the design and analysis of Genome-Wide Association Studies (GWAS). K. Yu, Z. M. Wang, Q. Z. Li, S. Wacholder, R. Hoover, D. Hunter, S. Chanock, G. Thomas, CGEMS Project Team.

108/2:15 A permutation test for estimating the number of subpopulations using whole-genome SNP data. K. Bryc, H. Gao, C. D. Bustamante.

109/2:30 Informative heterogeneity and failed replication: lessons from genome-wide association data for type 2 diabetes. M. I. McCarthy, T. M. Frayling, N. J. Timpson, M. N. Weedon, C. M. Lindgren, H. Lango, K. S. Elliott, J. R. B. Perry, N. W. Rayner, R. M. Freathy, A. T. Hattersley, E. Zeggini, The Wellcome Trust Case Control and UK Type 2 Diabetes Genetics Consortia.

110/2:45 Combining SNP genotype data and hybridization intensity to simultaneously detect and test deletions for disease association. J. R. Kohler, D. J. Cutler.

111/3:00 Using LD to predict CNVs and test for disease associations. N. Cardin, C. Barnes, V. Plagnol, D. Clayton, M. Hurles, P. Donnelly, J. Marchini on behalf of the WTCCC CNV Analysis Group.

112/3:15 A robust statistical method for genome-wide Copy Number Variation association studies. C. Barnes, V. Plagnol, N. Cardin, J. Marchini, D. Clayton, M. Hurles on behalf of the WTCCC CNV Analysis Group.

113/3:30 Ordered Subset Analysis for Association Mapping. R. H. Chung, S. Schmidt, X. Qin, X. Lou, E. R. Martin, E. R. Hauser.

114/3:45 Population genomics of human gene expression. E. T. Dermitzakis, B. E. Stranger, A. Nica, M. S. Forrest, A. Dimas, C. P. Bird, C. Beazley, C. Ingle, M. Dunning, P. Flicek, D. Koller, S. Montogomery, S. Tavare, M. E. Hurles, P. Deloukas.

115/4:00 Searching for Master Regulatory Variants of Gene Expression. J. Ding, G. R. Abecasis.

116/4:15 Common Mitochondrial Haplogroups Do Not Predict Risk of Morbidity, Mortality, or Longevity in the General Population. M. Benn, M. Schwartz, B. G. Nordestgaard, A. Tybjærg-Hansen.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 33 – Molecular Basis Mendelian Disorders I

Room 28

Co-Moderators: Andrew J. Griffith, National Institute on Deafness and Communication Disorders, National Institutes of Health, Bethesda, MD; and Deborah Krakow, Cedars-Sinai Medical Center, Los Angeles, CA

117/2:00 Syne1 mutations cause a novel form of autosomal recessive pure cerebellar ataxia. F. Gros-Louis, N. Dupré, P. Dion, M. Fox, S. Laurent, J. R. Sanes, J. P. Bouchard, G. A. Rouleau.

118/2:15 Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation. F. Molinari, S. Romano, F. Foulquier, W. Morelle, P. de Lonlay, P. S. Tarpey, J. Teague, S. Edkins, P. A. Futreal, M. R. Stratton, M. Partington, G. Turner, G. Matthijs, J. Gecz, A. Munnich, L. Colleaux.

119/2:30 Identification of mutations causing severe motoneuron disease. H. O. Nousiainen, M. Kestilä, N. Pakkasjärvi, H. Honkala, S. Kuure, J. Tallila, K. Vuopala, J. Ignatius, R. Herva, L. Peltonen.

120/2:45 Genotype-phenotype analysis in Retinal Vasculopathy with Cerebral Leukodystrophy with 3'-truncating mutations in human 3'-5' DNA Exonuclease TREX1. A. M. J. M. van den Maagdenberg, A. Richards, J. C. Jen, D. Kavanagh, D. Spitzer, M. K. Liszewski, M. L. Barilla-LaBarca, G. M. Terwindt, Y. Kasai, M. G. Grand, K. R. J. Vanmolkot, P. T. V. M. de Jong, M. Dichgans, K. E. Kotschet, T. Hardy, S. F. Nelson, R. R. Frants, R. W. Baloh, M. D. Ferrari, J. P. Atkinson.

121/3:00 Comprehensive analysis of aberrantly spliced exons in myotonic dystrophy type 1 using Affymetrix Exon Array. Y. Yamashita, T. Matsuura, J. Shinmi, T. Ibi, M. Kinoshita, T. Kimura, O. Yahara, K. Sahashi, K. Ohno.

122/3:15 Mutations in the Na⁺/H⁺ exchanger gene SLC9A6 cause an X-linked variant of Angelman Syndrome. K. K. Selmer, G. D. Gilfillan, C. E. Schwartz, R. E. Stevenson, A. L. Christianson, M. Kyllerman, T. Egeland, M. Kroken, M. Mattingsdal, K. Eiklid, D. E. Undlien, P. Strømme.

123/3:30 Mutations in UPF3B, a member of the nonsense mediated mRNA decay surveillance complex, cause Lujan-Fryns and FG phenotypes and non-syndromic X-linked mental retardation. J. Rodriguez, P. S. Tarpey, L. S. Nguyen, F. L. Raymond, A. Hackett, L. Vandeleur, R. Smith, C. Shoubridge, S. S. Bhat, M. Corbett, M. E. Porteous, G. Hoganson, D. Superneau, G. Turner, R. E. Stevenson, C. E. Schwartz, P. A. Futreal, M. R. Stratton, J. Gecz, A. K. Srivastava.

124/3:45 Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with peripheral RPE atrophy. C. Chakarova, M. Papaioannou, A. Shah, N. Waseem, I. Lopez, B. Wissinger, E. Zrenner, C. Ponting, R. Koenekoop, S. S. Bhattacharya.

125/4:00 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency amongst the Amish. H. Cross, K. Kalidas, K. G. Zahka, J. Tumbush, B. B. Keller, C. Galambos, K. Gurtz, M. A. Patton, A. H. Crosby.

126/4:15 A novel gene is disrupted in a patient with balanced translocation t(3;X)(q12.3-q22.3) associated with Cerebral Cavernous Malformations. F. Gianfrancesco, T. Esposito, S. Penco, V. Maglione, F. Letizia, C. L. Liquori, M. C. Patrosso, O. Zuffardi, A. Ciccodicola, D. A. Marchuk, F. Squitieri.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 34 – Genetic Counseling and Clinical Services

Room 29

Co-Moderators: Cheryl A. Scacheri, Cleveland Clinic, Genomic Medicine Institute, Cleveland, OH; and David B. Flannery, Medical College of Georgia, Augusta

127/2:00 Moral distress and burnout among clinical genetics service providers (GSPs). B. A. Bernhardt, K. Kolodner, G. Geller.

128/2:15 Transitioning to self-management (TSM): experience with Marfan syndrome (MFS). R. E. Pyeritz, B. A. Bernhardt, E. Giarelli.

129/2:30 Social support, communal coping and psychological status in sisters in Hereditary Breast and Ovarian Cancer (HBOC) families. J. A. Peters, L. Koehly, L. Hoskins, N. Kuhn, A. Letocha, R. Kenen, J. Loud, M. H. Greene.

130/2:45 Reimbursement for genetic counseling and related services. J. Dungan, C. Yates, A. Trivedi, T. Bamlett Sherman, L. Shulman.

131/3:00 Towards recommendations for genetic counseling. H. Kaariainen, E. Rantanen, M. Hietala, U. Kristoffersson, I. Nippert, J. Schmidtke, J. Sequeiros.

132/3:15 Telegenetic Use in the United States: results of 2007 NCC Telegenetics Workgroup Survey. H. C. Andersson, B. Butler, J. Benkendorf, B. Bowdish, M. Watson.

133/3:30 Predictive Testing for Multiple Genetic Variants in Common Diseases: a different ELSI landscape from testing for traditional genetic diseases. A. C. J. W. Janssens, M. Gwinn, C. M. van Duijn, M. J. Khoury.

134/3:45 High throughput testing for common and recurrent mutations responsible for Mendelian diseases. J. W. Belmont, R. Chen, L. Nazareth, D. Stockton, W. Craigen, C. Shaw, A. L. Beaudet, J. Lupski, R. Gibbs.

135/4:00 Model for disclosure of research genetic testing results. S. Adam, D. Avard, P. Birch, P. Eydoux, B. Knoppers, S. Langlois, M. A. Marra, J. Samuel, J. M. Friedman.

136/4:15 The challenge of counseling families with results of unclear clinical significance by array CGH as illustrated by duplications of the BCR gene region at 22q11.23. J. Coppinger, D. McDonald-McGinn, E. Zackai, K. Shane, J. F. Atkin, R. Leland, K. Schmidt, H. Feldman, W. Cohen, J. Phalin, B. Powell, B. C. Ballif, B. A. Bejjani, T. Shaikh, S. Saitta, L. G. Shaffer.

Thursday, October 25 2:00 PM–4:30 PM

Concurrent Platform Sessions II (29–35)

SESSION 35 – Cardiovascular Genetics

Room 30

Co-Moderators: Paivi E. Pajukanta, University of California, Los Angeles; and John G. Seidman, Harvard Medical School, Boston, MA

137/2:00 Identification of susceptibility genes for Myocardial Infarction following the combined analysis of two large genome scans in German and UK samples. P. Deloukas on behalf of CARDIOGENICS.

138/2:15 A Sequence Variant Adjacent to CDKN2A and CDKN2B Affects the Risk of Atherosclerosis in Several Vascular Beds. A. Helgadottir, K. P. Magnusson, S. Gretarsdottir, G. Thorleifsson, A. Manolescu, K. Kostulas, R. Pola, B. Lindblad, G. Tromp, N. Sakalihasan, R. E. Ferrell, J. Hillert, J. Powell, H. Kuivaniemi, E. Valdimarsson, S. E. Matthiasson, G. Thorgeirsson, J. R. Gulcher, A. Kong, K. Stefansson.

139/2:30 Genome-wide Scan for Coronary Artery Disease Genes using 500,668 markers. A. F. R. Stewart, R. McPherson, L. Chen, K. Williams, N. Kavaslar, J. Rutberg, H. Doelle, G. Ewart, G. A. Wells, R. Roberts.

140/2:45 VNN1, A Novel Gene for Cardiovascular Disease Risk. J. E. Curran, M. P. Johnson, H. H. H. Goring, T. D. Dyer, J. C. Charlesworth, S. A. Cole, J. B. Jowett, L. J. Abraham, D. L. Rainwater, M. C. Mahaney, L. Almasy, J. W. MacCluer, A. H. Kissebah, G. R. Collier, E. K. Moses, J. Blangero.

141/3:00 Identification and replication of FAM5C polymorphisms associated with myocardial infarction. J. J. Connelly, A. B. Hale, S. Gadson, J. F. Doss, X. Lou, D. R. Crosslin, S. H. Shah, D. C. Crossman, C. B. Granger, V. Mooser, C. J. H. Jones, J. M. Vance, P. J. Goldschmidt-Clermont, W. E. Kraus, E. R. Hauser, S. G. Gregory.

142/3:15 ACTA2 mutations cause diverse and diffuse vascular diseases, including aortic aneurysms, premature coronary artery disease and Moyamoya disease. D. Guo, H. Pannu, V. Tran-fadulu, C. Papke, N. Avidan, S. Bourgeois, R. Yu, A. Estrera, H. Safi, P. Tung, L. Buja, S. Scherer, C. Raman, S. Shete, D. Milewicz.

143/3:30 Variants on 4q25 confer risk of atrial fibrillation. D. Gudbjartsson, D. Arnar, A. Helgadottir, S. Gretarsdottir, G. Thorleifsson, G. Thorgeirsson, K. Kostulas, J. Hillert, R. Ma, M. C. Y. Ng, J. Rosand, P. Ellinor, H. Holm, J. Gulcher, U. Thorsteinsdottir, A. Kong, K. Stefansson.

144/3:45 Association mapping of the five quantitative ECG traits RR, P, PQ, QRS AND QT in a 500K genome-wide scan: confirmation of the NOS1AP association to QT and identification of a spectrum of additional QTLs. A. Pfeufer, M. Akyol, M. F. Sinner, S. Perz, C. Gieger, B. M. Beckmann, T. Illig, H. E. Wichmann, S. Kaab, T. Meitinger.

145/4:00 Genetic association of the epithelial sodium channel g-subunit with 25-year follow-up blood pressures in Utah pedigrees - a replication study. C. J. Büsst, K. J. Scurrah, J. A. Ellis, Y. Xin, E. A. Brinton, P. N. Hopkins, S. C. Hunt, S. B. Harrap.

146/4:15 Whole-genome association study in the Old Order Amish identifies STK39 as a novel hypertension susceptibility gene. Y. Wang, P. F. McArdle, E. Rampersaud, H. Shen, X. Shi, N. I. Steinle, B. D. Mitchell, A. R. Shuldiner, Y.-P. C. Chang.

Friday, October 26 8:00 AM–10:30 AM

Concurrent Platform Sessions III (36–42)

SESSION 36 – Noncoding RNAs

Hall H

Co-Moderators: Nicholas Katsanis, The Johns Hopkins University, Baltimore, MD; and Christopher E. Pearson, Hospital for Sick Children, Toronto, Canada

147/8:00 Functional characterization of a sensory organ-specific miRNA cluster. P. D. Witmer, S. Xu, J. T. Mendell, S. Fisher, D. Valle.

148/8:15 Misregulation of small noncoding regulatory RNAs by the loss of MeCP2 in a mouse model of Rett Syndrome. K. Szulwach, X. Li, S. Mathias, X. Zhao, P. Jin.

149/8:30 Prader-Willi syndrome is caused by paternal deficiency for the HBII-85 C/D box snoRNA cluster. T. Sahoo, D. del Gaudio, J. R. German, M. Shinawi, S. U. Peters, R. Person, A. Garnica, S. W. Cheung, A. L. Beaudet.

150/8:45 SnoRNA Pwcr1/MBII-85 deletion mouse model for Prader-Willi syndrome shows growth retardation, hyperphagia and altered metabolism. F. Ding, H. H. Li, S. Zhang, N. Solomon, S. Camper, E. Mignot, U. Francke.

151/9:00 MicroRNAs influence gene expression phenotypes of ataxia telangiectasia carriers. V. G. Cheung, D. A. Smirnov.

152/9:15 Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of a-synuclein. G. Wang, J. van der Walt, G. Mayhew, Y. Li, S. Züchner, W. K. Scott, E. Martin, J. M. Vance.

153/9:30 Enrichment and variability of PIWI-interacting RNAs (piRNAs) in segmental duplications and copy number variants (CNVs) suggest a functional role in the integrity of the genome. L. Armengol, M. Caceres, A. Brunet, X. Estivill.

154/9:45 Exhaustive analysis of non-coding DNA around phox2b reveals most biologically important sequences are not detected by sequence conservation. D. M. McGaughey, R. M. Vinton, J. Huynh, A. Al-Saif, M. A. Beer, A. S. McCallion.

155/10:00 Polysome fractionation suggests that a fraction of Txfrags is translated. S. Nikolaev, S. Deutsch, R. Genolet, L. Parand, B. Conne, P. Descombes, J.-D. Vassalli, J. Curran, S. E. Antonarakis.

156/10:15 Insights into the noncoding RNA transcriptome in the mammalian brain. S. Sunkin, T. Mercer, M. Dinger, M. Mehler, A. Jones, J. Mattick.

Friday, October 26 8:00 AM–10:30 AM

Concurrent Platform Sessions III (36–42)

SESSION 37 – Animal Models

Room 20A

Co-Moderators: David R. Beier, Brigham and Women's Hospital, Boston, MA; and Donna M. Martin, University of Michigan Medical Center, Ann Arbor

157/8:00 Genome-wide association and platelet system biology studies to unravel the genetic architecture of coronary artery disease. A. H. Goodall, The Bloodomics and WTCCC Consortia.

158/8:15 AAV mediated expression of myotubularin in muscle corrects the myotubular myopathy phenotype in a mouse model and suggests a function in membrane remodeling at the sarcolemma. A. Buj-Bello, F. Fougerousse, Y. Schwab, N. Messaddeq, D. Spehner, P. Schultz, O. Danos, J. Laporte, A.-M. Douar, J.-L. Mandel.

159/8:30 The first report of a de novo heterozygous missense DISP1 mutation in a patient with congenital diaphragmatic hernia (CDH) and additional malformations. S. Kantarci, F. O'Neill, M. K. Russell, K. M. Noonan, R. Pieretti-Vanmarcke, L. Mitova, J. Wilson, P. Dickman, K. Yboa, P. K. Donahoe, B. R. Pober.

160/8:45 Genetic interaction of Bardet-Biedl syndrome genes and implication for polydactyly utilizing zebrafish model system. M. Tayeh, H.-S. Yen, J. Beck, C. Searby, H. Griesbach, E. Stone, D. Slusarski, V. Sheffield.

161/9:00 Growth retardation, hyperactivity, abnormal anxiety-related responses, and impaired neuromuscular and sensorineural coordination in a mouse model overexpressing Rai1. S. Girirajan, N. Patel, R. E. Slager, M. E. Tokarz, M. Bucan, J. L. Wiley, S. H. Elsea.

162/9:15 Hypomorphic mutations in the syndromic encephalocoele gene MKS1 perturb gastrulation movements and cause Bardet-Biedl syndrome. C. Leitch, J. L. Badano, N. A. Zaghloul, C. Stotzel, B. Drehman, M. Al-Fadhel, R. A. Lewis, W. Eyaid, H. Dollfus, P. L. Beales, N. Katsanis.

163/9:30 Mutations in insulin-like factor 3 receptor are associated with osteoporosis. A. Ferlin, A. Pepe, L. Gianesello, A. Garolla, S. Feng, R. Morello, A. I. Agoulnik, C. Foresta.

164/9:45 Mutations in NIMA-related kinase NEK8 causes nephronophthisis in humans and affects ciliary and centrosomal localization. E. Otto, M. Trapp, U. Schultheiss, L. Quarmby, F. Hildebrandt.

165/10:00 Bioinformatics approach to identification of genes involved in multiple pituitary hormone deficiency: homeotic selector Ash1l. S. Camper, N. Solomon, A. Mortensen, M. Brinkmeier, J. MacDonald, D. Ghosh, P. Carninci, Y. Hayashizaki, R. Lyons.

166/10:15 Loss of function of the ACTN3 gene alters muscle metabolism and has been selectively favored during recent human evolution. D. G. MacArthur, J. M. Raftery, G. A. Huttley, J. T. Seto, K. G. R. Quinlan, S. Easteal, N. Yang, K. N. North.

Friday, October 26 8:00 AM–10:30 AM

Concurrent Platform Sessions III (36–42)

SESSION 38 – Psychiatric Genetics

Room 20B/C

Co-Moderators: Michael S. Philips, University of Montreal, Canada; and Lisa J. Martin, Cinncinnati Children's Hospital, OH

167/8:00 A genome-wide autism association study identifies a common variant with sex-dependent effects at the neurexin-superfamily member CNTNAP2. D. E. Arking, D. J. Cutler, C. W. Brune, T. M. Teslovich, K. West, M. Ikeda, A. Rea, M. Guy, S. Lin, E. H. Cook, Jr., A. Chakravarti.

168/8:15 Identification of OXTR and MAFF deletions within independent autism families by whole genome tilepath microarray analysis. S. G. Gregory, J. J. Connelly, S. Donnelly, R. Abramson, H. Wright, M. Cuccaro, J. P. Hussman, J. R. Gilbert, M. A. Pericak-Vance.

169/8:30 A comprehensive association study of 106 candidate genes for Attention Deficit Hyperactivity Disorder. B. S. Maher, B. Devlin, R. E. Ferrell, G. P. Kirillova, H. Chilcoat, E. L. Murrelle, R. E. Tarter, M. M. Vanyukov.

170/8:45 Integration of novel statistical and biological methods identifies a causal SNP for schizophrenia in NOS1AP. L. Brzustowicz, N. S. Wratten, H. Memoli, Y. Huang, M. A. Azaro, J. Messenger, J. E. Hayter, E. W. C. Chow, A. S. Bassett, S. Buyske, V. J. Vieland.

171/9:00 High Risk Cohort Specific Variants in DISC1 are Identified and Associated with Schizophrenia with an Estimated Attributable Risk of 2%. W. Song, J. Feng, W. Li, J. Longmate, L. Heston, S. Sommer.

172/9:15 Genome-scan with a quantitative phenotype identifies new genes for the susceptibility to schizophrenia. F. Macciardi, J. Turner, D. Keator, L. Geronazzo, J. Fallon, S. G. Potkin.

173/9:30 Replicated analyses suggest a network of dopaminergic genes confer risk for schizophrenia. M. E. Talkowski, M. Bamne, H. Mansour, K. Chowdari, J. Wood, L. McClain, G. Kirov, M. C. O'Donovan, M. Owen, B. Devlin, V. L. Nimgaonkar.

174/9:45 Polymorphisms in the SNAP25 gene are associated with early-onset bipolar affective disorder. S. Jamain, B. Etain, A. Dumaine, F. Mathieu, F. Chevalier, J. Deshommes, C. Henry, J. P. Kahn, F. Bellivier, M. Leboyer.

175/10:00 Psychotherapeutic mechanisms of change: the role of genes in depression treatment outcome. A. Kotte, J. R. McQuaid, J. R. Kelsoe.

176/10:15 The Development of a Broad-Based ADME Panel for use in Pharmacogenomic Studies and Drug Development. A. M. K. Brown, Y. Renaud, I. Mongrain, N. Gaudreault, C. Ross, C. Taylor Lawley, R. Shen, C. H. Lin, J.-C. Tardif, M. S. Phillips.

Friday, October 26 8:00 AM–10:30 AM

Concurrent Platform Sessions III (36–42)

SESSION 39 – Letting the Genie Out of the Bottle: Genotype/Phenotype Correlations

Room 20D

Co-Moderators: J. Edward Spence, Carolinas Medical Center, Charlotte, NC; and Lisa Schimmenti, University of Minnesota, Minneapolis

177/8:00 Refining the molecular and clinical definitions for JP-HHT syndrome. C. J. Gallione, C. L. Clericuzio, T. P. Leedom, J. C. Fahl, J. M. Drautz, J. D. Waldman, K. Henderson, M. J. Beis, M. Ludman, T. Berk, M. K. Maisenbacher, C. A. Williams, Z. Fan, A. S. Aylsworth, J. Garvie, M. E. Faughnan, R. I. White, D. A. Marchuk.

178/8:15 Sporadic Venous Malformation is Caused by Somatic Mutations in TIE2. V. Wouters, N. Limaye, M. Uebelhoer, J. B. Mulliken, L. M. Boon, M. Vikkula.

179/8:30 Phenotypic features associated with TGFBR1 and TGFBR2 mutations in familial thoracic aortic aneurysms and dissections. H. Pannu, V. Tran-Fadulu, M. C. Willing, A. Muilenberg, C. Ahn, D. M. Milewicz.

180/8:45 Hutchinson-Gilford Progeria Syndrome (HGPS): comprehensive characterization of 15 children. M. A. Merideth, W. J. Introne, L. B. Gordon, M. B. Perry, S. B. Clauss, V. Sachdev, C. K. Zalewski, C. C. Brewer, J. Kim, J. C. Graf, A. C. M. Smith, L. H. Gerber, J. A. Yanovski, D. L. Domingo, T. C. Hart, F. S. Collins, E. G. Nabel, R. O. Cannon, W. A. Gahl.

181/9:00 Phenotypic subclassification amongst individuals with cohesin-related Cornelia de Lange Syndrome: SMC1A, SMC3 and NIPBL specific features. D. Yaeger, M. A. Deardorff, M. Kaur, L. G. Jackson, I. D. Krantz.

182/9:15 It's in your hands: a combined clinical, molecular and developmental approach to the diagnosis of radial ray defects. R. A. Newbury-Ecob, A. Sharif, M. Logan.

183/9:30 Delineation of star syndrome (syndactyly, telecanthus, anogenital, and renal anomalies). S. Unger, D. Böhm, W. Borozdin, B. Steiner, T. Schmitt Mechelke, K. Borowski, K. Keppler-Noreuil, G. Mortier, R. Sandford, B. Zab