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American Society of Human Genetics - San Diego - October 18-22, 2014 Contact Search
 

Saturday, October 18

5:00 PM–5:30 PM

ASHG Presidential Address

Hall B1, Ground Level, Convention Center

 

Cynthia Casson Morton, Brigham and Women's Hospital/Harvard Medical School


Sunday, October 19

8:00 AM–9:30 AM

Distinguished Speakers Symposium: Separating Signal from Noise

Hall B1, Ground Level, Convention Center

Moderators: Cynthia Casson Morton, Brigham and Women's Hosp/Harvard Med Sch, Boston
  Andrew S. McCallion, Johns Hopkins Univ

This symposium will address the challenges inherent in the pursuit of genome sequencing/genomic data as a universal diagnostic/prognostic/therapeutic guide in human disease research and clinical application. This discussion, which will include experts from outside the ASHG community, will highlight the challenges and opportunities presented by big data in the genomics era.

 

8:00 AM   Genomic Analytics with IBM Watson. A. Royyuru. IBM Watson Research Center.

8:30 AM   Title TBD. D. Glazer. Google.

9:00 AM   Medicine and Public Health. M. Khoury. CDC.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Beyond Canonical CNVs: Interpreting Other Forms of Genomic Structural Variation

Room 6CF, Upper Level, Convention Center

Moderators: Ryan E. Mills, Univ Michigan, Ann Arbor
  Jan Korbel, European Molec Biol Lab (EMBL), Heidelberg, Germany

Although the past decade has greatly expanded our knowledge of copy number variation (CNVs) and their role in human health and disease, technological limitations have hampered the discovery and characterizations of several remaining forms of structural variation, including multi-allelic CNVs, sequence insertions, as well as balanced inversions. The emergence of longer sequencing reads coupled with advances in computational approaches for structural variant inference has now allowed for the accurate detection of balanced rearrangements as well as insertions of repetitive, retroduplicated, and non-template genomic material, and can be used as a starting point to dissect the structure of genomic loci that have undergone repeated duplications. In this session, we will describe the progress that has been made in examining these important forms of structural variation with the latest technologies and assessing their impact on population diversity and evolution. We will also discuss the analysis and interpretation of multi-allelic genomic regions. Topics will include an exploration into functional effects at the transcriptome level as well as genetic and epigenetic preferences for variant formation mechanisms. A retrospective look at what was missed in previous large-scale studies will also be discussed.

 

10:00 AM   Analysis of SVs in human populations. M. Gerstein. Yale Univ, New Haven.

10:30 AM   Complex and multi-allelic forms of copy number variation. S. McCarroll. Harvard Med Sch, Boston.

11:00 AM   Genomic landscape of polymorphic nuclear mitochondrial insertions in humans and other primates. R. E. Mills. Univ Michigan, Ann Arbor.

11:30 AM   Discovery and impact of balanced inversion polymorphisms. J. Korbel. European Molec Biol Lab (EMBL), Heidelberg, Germany.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Beyond Mendel: Complexities of Simple Mendelian Disorders

Room 20A, Upper Level, Convention Center

Moderators: Jeenah Park, Johns Hopkins Sch Med, Baltimore
  Shira G. Ziegler, Johns Hopkins Sch Med, Baltimore

Single-gene disorders are called Mendelian disorders because they display the patterns of inheritance largely consistent with Mendel’s laws. Single-gene disorders with classic Mendelian inheritance can be autosomal or sex-linked, and dominant or recessive. The more we learn about the molecular etiology of classic Mendelian disorders, the more we realize that our view of disease transmission frequently represents an oversimplification of reality. For instance, patients with the same disorder, which is inherited in a monogenic fashion following the Mendelian model, often exhibit a wide range of phenotypic presentation/severity. Identification of the specific disease genes has played a significant role in improving our understanding of gene functions and biological pathways associated with the corresponding diseases. Nonetheless, we should looks for ways in which we can close the gap in our understanding of the factors that modify disease severity. What makes these so-called “simple” Mendelian disorders complex? To answer this question, we will explore four classic Mendelian disorders – Cystic Fibrosis, Retinitis Pigmentosa, Spinocerebellar Ataxia and Muscular Dystrophy – many of which are characterized by vast phenotypic heterogeneity. Allelic heterogeneity and non-penetrance can obscure the patterns of inheritance and make it difficult to predict the consequence of each mutation. Moreover, genetic modifiers modulate so-called Mendelian phenotypes more than we have appreciated. Through a deeper understanding of the allelic contribution and interactions with other factors, we can broaden our view and integrate new insights uncovered by recent research on disease etiology, progression, and differential therapeutic strategies.

 

10:00 AM   Elucidating the contribution of CFTR allelic variation and modifier genes to phenotypic variation in cystic fibrosis. J. Park. Johns Hopkins Sch Med, Baltimore.

10:30 AM   Opening Pandora’s box: The molecular basis of non-penetrance in PRPF31-associated retinitis pigmentosa. A. M. Rose. UCL Inst Ophthalmol, London, United Kingdom.

11:00 AM   RNA-sequencing reveals a complex role of Ataxin-1 in SCA1. M. A. Ingram. Univ Minnesota, Minneapolis.

11:30 AM   The muscular dystrophies: Revealing the genetic and phenotypic variability. N. M. Vieira. Boston Children’s Hosp, Harvard Med Sch.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Crowdsourced Genetics

Room 6AB, Upper Level, Convention Center

Moderators: Itisk Pe'er, Columbia Univ, New York
  Yaniv Erlich, Whitehead Inst Biomed Res, Cambridge

Crowd science aims to leverage the power of the masses to tackle scientific tasks that are challenging to address with traditional methodologies. The history of crowd science goes back to Galton, who was the first to report that estimations by a large number of amateurs can collectively yield similar values to precise measurements by conventional means. In the last few years, we have witnessed renewed interest in crowd science approaches. The advent of social media has created vast opportunities to partner with large crowds and engage individuals to participate in various parts of the scientific process. This session will present crowd science models that have been successfully applied to fundamental challenges in human genetics. First, we will show how crowd data mining by citizen genealogists enabled the building of an ultra-large family tree of millions of people, which provided sufficient statistical power to dissect the genetic architecture of complex traits. Second, we will show how crowd computation leverages the brainpower of hundreds of thousands of gamers to fold proteins, a challenging problem for traditional bioinformatics algorithms. Third, we will show crowd experiments that integrate genetic signals and clinical data to gain insight into drug repositioning for type 2 diabetes and inflammatory bowel disease. Finally, we will present the successful crowdfunding for research on a very rare genetic disorder, fatal familial insomnia using Experiment.com. Together, this session will highlight technical frameworks and methodologies for crowd science in human genetics and common themes and lessons learned from reaching out to the crowd.

 

10:00 AM   Crowd mining: Dissecting the genetic architecture of complex traits with millions of people. Y. Erlich. Whitehead Inst Biomed Res, Cambridge.

10:30 AM   Crowd computing: Scientific discoveries by protein folding game. F. Khatib. Univ Massachusetts Dartmouth.

11:00 AM   Crowd experiments: Translating a trillion points of data into new disease insights. A. Butte. Stanford Univ.

11:30 AM   Crowd funding: A personal quest to cure prion disease. S. Vallabh. PrionAlliance, Boston.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Curiouser and Curiouser! Navigating Career Transitions and Challenges in Genetics

Room 20BC, Upper Level, Convention Center

Moderators: Amy L. Stark, Univ Chicago
  Krista A. Geister, Seattle Children's

The training of a young geneticist prepares him or her for making decisions regarding the planning and execution of genetic research. However, there are some components of a successful career that are not incorporated in formalized training programs. The majority of this type of learning is achieved through mentoring and life experience. For example, the act of self-promotion may seem straightforward, but there are different and more effective ways of promoting oneself at various stages of one’s career. What are the secrets to success at various stages? What are these unforeseen challenges facing young scientists, and how can they be met? How does one bring together clinical and basic science interests together to form productive and stimulating career? What are the challenges that face women and how can they be over overcome? The goal of this session is to answer these questions and many more with presentations from individuals with experience in tackling the numerous challenges trainees experience as they progress in their careers.

 

10:00 AM   When, where, why, what, and how: Finding/recruiting for the right postdoctoral position. B. E. Stranger. Univ Chicago.

10:30 AM   Clinical connection: Careers in genetic diagnostics. K. Deak. Duke Univ, Durham.

11:00 AM   Launching your academic career: Take off the training wheels and enjoy the ride. S. Camper. Univ Michigan, Ann Arbor.

11:30 AM   Tackling the paucity of women in scientific leadership roles. E. Zeggini. Wellcome Trust Sanger Inst, Hixton, United Kingdom.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Targeted Drug Therapies for Progressive Genetic Disorders

Room 6DE, Upper Level, Convention Center

Moderators: Joseph G. Hacia, Univ Southern California, Los Angeles
  Nancy E. Braverman, McGill Univ, Montreal

Expanded newborn screening and genome sequencing provide powerful means to identify individuals with progressive genetic disorders at an early or presymptomatic stage of disease. This presents an unprecedented opportunity for therapeutic interventions that delay disease onset and/or halt progression before irreversible damage occurs. Here, we will review recent progress towards developing drug therapies targeted to the molecular mechanisms underlying diverse progressive genetic disorders including cystic fibrosis, Duchenne muscular dystrophy, lysosomal storage disorders, and tuberous sclerosis. We will discuss large-scale NIH drug screening initiatives and highlight an FDA-approved mutation-specific drug therapy for cystic fibrosis as a model in which disease identification at birth can precede clinical symptoms. Furthermore, we will describe results from clinical trials that evaluate the efficacy of rationally designed drug therapies that target dysfunctional cell regulation at the level of signaling and growth factor pathways.

 

10:00 AM   Drug screening for genetic disorders: Recent progress and future developments. J. Inglese. NCATS/NIH, Rockville.

10:30 AM   Genotype-specific targeted small molecule therapies for cystic fibrosis. B. Ramsey. Univ Washington Sch Med, Seattle.

11:00 AM   Exon skipping and nonsense suppressor therapies to treat Duchenne muscular dystrophy. S. F. Nelson. UCLA.

11:30 AM   Targeting molecular signaling pathways to treat Mendelian disorders with progressive neurologic involvement. M. J. Gambello. Emory Univ Sch Med, Atlanta.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

The X-Factor of Complex Disease: From Evolution to Association Studies of the X Chromosome

Room 30, Upper Level, Convention Center

Moderators: Alon Keinan, Cornell Univ, Ithaca
  Melissa A. Wilson Sayres, UC Berkeley

Despite sexual dimorphism of most complex human diseases studied in genome-wide association studies, the sex chromosomes have been mostly omitted. Not only can they explain a portion of “missing heritability” of currently available genotyping data across thousands of studies, but without appropriate methods they will remain unexplored in the era of sequence-based studies. Many problems need to be resolved for the X to be studied thoroughly. In this session speakers will describe progress and novel results in the understanding X-inactivation, interpretation of the unique patterns of population genetic variation on the X and, importantly, how these lead to exciting new methods for analyzing the X chromosome in association and functional studies of complex human diseases and quantitative traits. Novel X-linked complex disease risk loci underlying several diseases will be presented, as well as how X-inactivation can be studied to better understand the function of long noncoding RNA. The session will show how ignoring the sex chromosomes may affect interpretations of population and medical genetic data and will demonstrate that understanding its role in medical genetics, and its unique response to evolutionary history, is an important step towards uncovering sexual dimorphism in disease etiology.

 

10:00 AM   Population genomics of sex chromosome evolution. M. A. Wilson Sayres. UC Berkeley.

10:30 AM   Xciting insights into human demographic history. S. Ramachandran. Brown Univ, Providence.

11:00 AM   Methods for association studies of the X chromosome and their application to unraveling its role in autoimmune diseases. A. Keinan. Cornell Univ, Ithaca.

11:30 AM   X-chromosome inactivation: A functional and genomic perspective. J. Lee. Massachusetts Gen Hosp, Boston.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Using Zebrafish to Model Human Genetic Disease Variation

Room 29, Upper Level, Convention Center

Moderators: Barry H. Paw, Brigham and Women's Hosp, Boston
  Nicholas Katsanis, Duke Univ, Durham

As genomic sequences become more available, the bottleneck in human genetics is shifting from identifying genetic variants to understanding their function. Model organisms that are genetically tractable are a powerful tool for rapidly screening variants. As a vertebrate with a relatively fast development, Danio rerio (zebrafish) is often an ideal organism for assessing the phenotypic impact of sequence changes. This session will provide insight into the technologies used to manipulate zebrafish, as well as several examples of major ongoing projects that are using zebrafish as a crucial component of a human genetics clinical research program. The speakers will describe projects that have implicated numerous genes in kidney disease, developmental disorders, and cardiac diseases and directions for future research and clinical application.

 

10:00 AM   Coupling exome sequencing and functional modeling in neonates. N. Katsanis. Duke Univ, Durham.

10:30 AM   From association to mechanism: Using zebrafish to evaluate GWAS loci. D. J. Milan. Massachusetts Gen Hosp, Charlestown.

11:00 AM   Zebrafish genome editing tools using random and targeted engineering for individualized medicine applications. S. C. Ekker. Mayo Clin Col Med, Rochester.

11:30 AM   Using zebrafish genetics to discover the developmental basis of human disease. C. B. Moens. Fred Hutchinson Cancer Res Ctr, Seattle.


Sunday, October 19

10:00 AM–12:00 NOON

Concurrent Invited Session I

Whole Genome/Exome Sequencing: Patient Expectations, Literacy, and Preferences for Genomic Information

Room 20D, Upper Level, Convention Center

Moderators: Amy L. McGuire, Baylor Col Med, Houston
  Gail Henderson, Univ North Carolina Sch Med, Chapel Hill

A primary challenge in the integration of whole genome and whole exome sequencing into clinical care is to develop best practices for offering testing and communicating test results to patients in a way that is highly responsive to patients’ expectations, genetic knowledge and literacy, and preferences for genomic information. In 2010 the NIH initiated a Clinical Sequencing Exploratory Research (CSER) program intended to develop methods needed for clinical integration of whole genome and whole exome sequencing and to conduct ethical, legal, and psychosocial research to help inform the responsible application of genomic sequencing to clinical practice. During this session we will report baseline findings from four NHGRI-funded CSER studies, summarize lessons learned, and discuss implications of our data for offering and conducting clinical sequencing in diverse patient populations.

 

10:00 AM   The MedSeq Pilot Project: Patient perspectives from a randomized trial of whole genome sequencing. A. L. McGuire. Baylor Col Med, Houston.

10:30 AM   The CanSeq Project: Opportunities and challenges of integrating whole exome sequencing into the care of advanced care patients. S. Gray. Dana Farber Cancer Inst, Brookline.

11:00 AM   NCGENES: Factors related to expectations for WES testing and decisions to receive incidental findings among a diverse patient population. C. Rini. Univ North Carolina at Chapel Hill.

11:30 AM   PEDISEQ: Parent perspectives and the inclusion of children in decisions about whole exome sequencing. B. A. Bernhardt. Perelman Sch Med, Univ Pennsylvania, Philadelphia.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Circulating Cell-Free Nucleic Acids as Clinical Biomarkers

Room 6AB, Upper Level, Convention Center

Moderators: Glenn E. Palomaki, Women & Infants Hosp/Alpert Med Sch at Brown Univ, Providence
  Y.M.D. Lo, Chinese Univ Hong Kong, Hong Kong

Circulating cell-free nucleic acids were reported in 1948, and by 1996 it was clear that cancer patients had tumor-specific DNA in circulation. In 1997, cell free fetal DNA was identified in maternal circulation, and subsequent studies have found circulating RNA as well as micro RNA (miRNA). With the advent of next-generation sequencing, circulating cell-free nucleic acids (ccfNA) have been explored as clinical biomarkers for a wide variety of clinical conditions such as fetal chromosomal or genetic disorders, cancer diagnosis/prognosis, transplantation medicine and coronary heart disease. In this session, four disparate methods for testing and interpreting ccfNA biomarkers will be presented, for the four clinical conditions listed.

 

9:00 AM   Sequencing circulating cell-free DNA in maternal plasma to identify Down syndrome. G. E. Palomaki. Women & Infants Hosp/Alpert Med Sch at Brown Univ, Providence.

9:30 AM   Circulating cell-free DNA enables the non-invasive diagnosis of rejection and infection in organ transplantation. I. De Vlaminck. Stanford Univ.

10:00 AM   Circulating microRNAs as biomarkers for cardiovascular risk. A. Zampetaki. Kings Col London, London, United Kingdom.

10:30 AM   Genome-wide plasma DNA sequencing as a universal approach for cancer detection. Y.M.D. Lo. Chinese Univ Hong Kong, Hong Kong.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Genomic Medicine Case Conference: Illustrative Clinical Examples

Room 20D, Upper Level, Convention Center

Moderators: Ian Krantz, Children's Hosp, Philadelphia
  Gail P. Jarvik, Univ Washington, Seattle

The advent of high-through-put and genomic medicine has abruptly changed clinical practice. We hope to provide an educational session that uses a case conference style to outline issues relevant to the clinical application of genomics. Each speaker will present 1-3 informative cases. Taken together, these cases will demonstrate facets that include the challenges of patient education and consent, variant interpretation and annotation, novel variant detection, incidental findings, incorporation of direct to consumer results, involvement of multiple medical specialists to evaluate patients and family members for manifestations of incidental findings, and other counseling issues. Each speaker’s talk will be limited to 15-20 minutes of the 30 minute block, to maximize discussion from the audience and the other speakers. The moderator will provide a very brief overview and introduce the speakers.

 

9:00 AM   Variant interpretation challenges in WGS cases from the MedSeq Study. H. Rehm. Harvard Univ, Cambridge.

9:30 AM   Genomic tests in pediatric patients. C. Eng. Baylor Col Med, Houston.

10:00 AM   Return of “actionable”, uncertain, and incidental findings in cancer. L. A. Garraway. Harvard Med Sch, Broad Inst, Boston.

10:30 AM   Cases demonstrating counseling issues in genomic medicine. L. Amendola. Univ Washington, Seattle.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Genomic Variation: Interpreting the Uninterpreted

Room 20A, Upper Level, Convention Center

Moderator: Douglas M. Fowler, Univ Washington, Seattle

The advent of high-throughput DNA sequencing has revealed an immense amount of variation in human genomes. The use of exome and genome sequencing in the clinic and the proliferation of direct-to-consumer genetic testing has intensified the pressure to understand how variation impacts health and other traits. Adding to the challenge is the fact that much of the variation in the genome is rare or complex, making it difficult to interpret using association-based methods. Consequently, new approaches for interpreting variation are being developed, and established methods are being improved. These methods are disparate, including model-based and high-throughput approaches for directly measuring the effects of variation and computational approaches that rely on inference. Each has strengths and weaknesses in terms of scale, accuracy and clinical relevance, but they are unified by a common goal: understanding the consequences of changes in the genome. This session seeks to bring together these disparate communities to explain how these methods are making inroads into variant interpretation, discuss the prospects for solving the variant interpretation problem on a genomic scale and stimulate a discussion on new ways to approach this critical problem.

 

9:00 AM   Population and personal transcriptomics to elucidate disease mechanisms. E. Dermitzakis. Univ Geneva Med Sch, Geneva, Switzerland.

9:30 AM   High-throughput screening for causal non-coding variants. T. Mikkelsen. Broad Inst, Cambridge.

10:00 AM   Calibration of multiple in silico tools for predicting pathogenicity of unclassified variants in DNA repair pathway genes. S. V. Tavtigian. Univ Utah Sch Med, Salt Lake City.

10:30 AM   Sequence-function mapping to determine the impact of coding variation. D. M. Fowler. Univ Washington, Seattle.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Genetics of Sleep and Circadian Disorders

Room 30, Upper Level, Convention Center

Moderators: Juliane Winkelmann, Stanford Univ, Palo Alto
  Emmanuel Mignot, Stanford Ctr Sleep Sci and Med, Palo Alto

This symposium will be focused on the genetics of sleep and circadian disorders, including common and rare sleep disorders. It will first cover current topics in human sleep genetics by providing examples of recent GWAS findings with consecutive resequencing of loci. We will specifically discuss how common non-coding variants contribute to gene regulation in particular cell types, and how this knowledge has changed our basic understanding of some sleep disorders. We will also discuss new findings demonstrating an important role for immunological genetics in sleep disorders, and will describe new developments in the design, content and complementation for exome sequencing that lead to these findings. Finally, we will review our current knowledge about the role of epigenetics of circadian rhythms, and the latest findings on epigenetic modification in mice.

 

9:00 AM   Genetic predisposition, molecular mimicry to 2009 H1N1 influenza and resulting CD4+ T-cell autoimmunity towards hypocretin/orexin in narcolepsy. E. Mignot. Stanford Ctr Sleep Sci and Med, Palo Alto.

9:30 AM   Genetics of restless legs syndrome. J. Winkelmann. Stanford Univ, Palo Alto.

10:00 AM   Genetics of circadian disorders. L. J. Ptacek. Howard Hughes Med Inst., UCSF.

10:30 AM   Transcriptional architecture and chromatin landscape of the circadian clock in mammals. J. S. Takahashi. Univ Texas Southwestern Med Ctr, Dallas.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Heritability and Risk Prediction for Complex Traits: Regulatory Variants and Polygenic Models

Room 20BC, Upper Level, Convention Center

Moderators: Manolis Kellis, MIT / Broad Inst, Cambridge
  Joel Hirschhorn, Harvard Med Sch, Boston

Heritability and risk prediction studies have revealed that the genetic architecture of many complex traits involves a very large number of variants of small effect. Although common variants jointly explain more than half of narrow-sense heritability, the source of their effects remains elusive. This can be remedied by exploiting genome-wide annotations of functional non-coding regions and partitioning heritability across different functional classes of regulatory elements. Moreover, regulatory networks linking regulatory variants to their likely target genes and the biological pathways that connect them can shed light on underlying disease mechanisms and inform association studies and fine-mapping. This session will discuss recent work in understanding the relative contribution of common SNPs vs. family history, exploiting epigenomics and regulatory genomics information to understand the role of regulatory information, partitioning the heritability of complex traits across genome annotation classes, and polygenic score heritability estimates and risk prediction.

 

9:00 AM   Insights on complex disease architecture from epigenomics and regulatory genomics studies. M. Kellis. MIT / Broad Inst, Cambridge.

9:30 AM   Heritability of functional variant classes in schizophrenia and other traits: Regulatory elements explain more heritability than coding variants. A. Price. Harvard Sch Publ Hlth, Boston.

10:00 AM   Risk prediction for complex disease: SNPs and family history in theory and practice. N. Eriksson. 23andMe, Mountain View.

10:30 AM   Explaining heritability and predicting risk with polygenic scores. F. Dudbridge. London Sch Hyg & Trop Med, London, United Kingdom.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Stakeholder Engagement in Genomics Policy Development: What Is It? Why Do It? How?

Room 29, Upper Level, Convention Center

Moderators: Julie N. Harris, Kaiser Permanente, Oakland
  Amy A. Lemke, Univ Washington, Seattle

There has been a proliferation of national and international policies governing genomic data and clinical technologies over the past three years. Alongside this trend, there is also increasing recognition from the Institute of Medicine and other bodies that engaging key stakeholders in developing clinical and research policies is essential to creating sound, transparent, and trusted health policy. However, in practice, the process of stakeholder engagement is sometimes loosely defined, resulting in feedback of variable quality and utility, and there is lack of clarity on how feedback is incorporated. With the complex and evolving landscape of genomics, a re-examination of current methods for identifying and incorporating stakeholder voices in policy and guideline development is critical. Key questions to examine include: 1) Why and when is it important to engage key stakeholders in genomics policy issues? 2) What roles can stakeholders play in different stages of policy development? 3) What does stakeholder engagement mean to different groups such as clinicians, payors, and patients? 4) How do we practically engage diverse stakeholders in a cost-effective manner? In this session, we will present novel engagement models, and describe unresolved questions and challenges in stakeholder engagement and their implications for genomic policy-making. Topics include: methods for identifying, recruiting and involving stakeholders in policy debate, current issues and models for prioritizing and incorporating stakeholder data, and strategies for evaluating engagement processes.

 

9:00 AM   Setting priorities for stakeholder engagement in genomics. W. Burke. Univ Washington, Seattle.

9:30 AM   Harnessing social networking to empower engagement. S. Terry. Genet Alliance, Washington, DC.

10:00 AM   Participatory governance and public deliberative engagement for health and science policy. M. Burgess. Univ British Columbia, Kelowna.

10:30 AM   Challenges and opportunities for stakeholder engagement: Strategies for incorporating public feedback into biobank policy-making. B. A. Koenig. UCSF Inst Hlth & Aging.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Variation, Mutation, and Selection through the Lens of Regulatory Genomics

Room 6CF, Upper Level, Convention Center

Moderators: Lucas D. Ward, MIT, Cambridge
  Alexis Battle, Stanford Univ

Comparative studies have shown that the majority of sequence conserved across species is noncoding, and that evolutionarily constrained sequence is strongly enriched for regulatory elements defined by functional genomics. Experimental work also suggests that epigenetic state is a determinant of mutation rate variability across the genome. Both of these observations suggest that regulatory elements, including sequences that dictate chromatin state and gene expression, play a pivotal role in shaping the landscape of mutation and selection, resulting in the sequence diversity patterns we see across and within species. This noncoding selection acts on variation that is consequential to human health and disease. This session will highlight work in regulatory genomics that explores the relationship between natural sequence variation, chromatin state, expression, and selection.

 

9:00 AM   The impact of chromatin on mutation rate. P. Polak. Massachusetts Gen Hosp, Charlestown.

9:30 AM   Recent purifying selection on enhancer-associated motifs. L. D. Ward. MIT, Cambridge.

10:00 AM   Genetic control of chromatin state. G. McVicker. Dana-Farber Cancer Inst / Stanford Univ, Boston.

10:30 AM   Mechanism and impact of regulatory genetic variation from chromatin state to protein expression. A. Battle. Stanford Univ.


Wednesday, October 22

9:00 AM–11:00 AM

Concurrent Invited Session II

Viruses, Genomic Instability, and the Pathogenesis of Human Cancers

Room 6DE, Upper Level, Convention Center

Moderator: David E. Symer, Ohio State Univ, Columbus

For more than a century, researchers have studied how diverse viruses can cause cancers. Groundbreaking recent molecular genetics and genomics studies have dramatically shifted our understanding of the molecular mechanisms and consequences of such viruses in disrupting genetic pathways and causing genomic instability in human cancers. The presentations in this session will address the latest breakthroughs in genetics and genomics research, addressing how several types of viruses can cause human cancers, and conversely how genomic “safe harbors” may be defined in order to improve virus-mediated gene therapy. Included in the session will be discussions of state-of-the-art research approaches using long-range genome sequencing methods, analysis of limiting numbers of cells, characterization of transcriptomes, identification of novel viral sequences, and the characterization of genomic cancer-free zones. Such advances have led to the discovery of novel viruses in cancers, and are driving current investigations into the biological and clinical significance of virus-associated genomic instability and the disruption of genetic pathways which contribute to cancer formation.

 

9:00 AM   Human papillomavirus induces genomic instability and disrupts cancer-causing genes in human cancers. D. E. Symer. Ohio State Univ, Columbus.

9:30 AM   New methods for haplotype resolution and the reconstruction of complex virus-associated cancer genomes. J. A. Shendure. Univ Washington, Seattle.

10:00 AM   High resolution analysis of hepatitis B virus integration in the liver cancer genome. Z. Zhang. Genentech Inc, South San Francisco.

10:30 AM   Virus-mediated gene therapy and the definition of cancer-free safe harbors in the human genome. F. D. Bushman. Univ Pennsylvania, Philadelphia.

 

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