Gordon Research Conferences
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Conference Program
 
Human Genetics & Genomics
July 7-12, 2013
Bryant University
Smithfield, RI
Chair:
David Goldstein

Vice Chair:
Nancy Cox

Related Meeting Information
The Human Genetics & Genomics Gordon Research Conference was held in conjunction with the Human Genetics & Genomics Gordon-Kenan Research Seminar. Please refer to the Human Genetics & Genomics GKRS web page for more information.

The age of personal genomics has now fully arrived, and along with it, the human genetics and genomics research community is now poised to systematically describe the genetic bases of human diseases. Nevertheless, significant challenges remain, from data integration and analysis through biological interpretation and clinical application. This Gordon Conference will bring together international leaders in the field of human genetics and genomics to discuss what has been learned and where the field is heading. Speakers will focus on advances in studying the organization and function of our genome including non coding regions, new insights into human genetic diversity, and a number of case studies of sequencing approaches applied to both rare and common diseases. A particular focus of the meeting will be the development of appropriate frameworks for the interpretation of whole-genome sequence data and for elucidating the biological effects of pathogenic variants. The conference should be of interest to researchers and students in the fields of human and medical genetics as well as those interested in genome biology in the post-genomic era. It will also provide a venue for rapid exposure to the "state of the art" for investigators contemplating studies, or the utilization of tools, in this field.


Contributors

SUNDAY
2:00 pm - 9:00 pmArrival and Check-in
6:00 pmDinner
7:30 pm - 7:40 pmWelcome / Introductory Comments by GRC Site Staff
7:40 pm - 9:30 pmIntegrating Human Genomics and Medical Genetics
Discussion Leader: David Goldstein (Duke University)
7:40 pm - 8:20 pmPeter Donnelly (University of Oxford)
"Genes and geography: using genomic data to infer fine-scale population structure and population history"
8:20 pm - 8:35 pmDiscussion
8:35 pm - 9:15 pmDavid Page (Whitehead Institute, Massachusetts Institute of Technology)
"The fruits of abstinence: The sex chromosomes"
9:15 pm - 9:30 pmDiscussion
MONDAY
7:30 am - 8:30 amBreakfast
8:30 amGroup Photo
9:00 am - 12:30 pmGenomic Data Analysis
9:00 am - 9:05 amDiscussion Leader: Richard Myers (Hudson Alpha Institute for Biotechnology)
"Introduction"
9:05 am - 9:30 amShaun Purcell (Massachusetts General Hospital)
"Whole-exome sequencing and applications to psychiatric disease"
9:30 am - 9:40 amDiscussion
9:40 am - 10:05 amCarlos Bustamante (Stanford University)
"Population Genomic Analysis of Personal Genome Data"
10:05 am - 10:15 amDiscussion
10:15 amCoffee Break
10:45 am - 10:55 amAbstract Talk 1: Nara Lygia Sobreira (Johns Hopkins University)
"Discovering Mendelian Disease Genes, a PhenoDB Analysis Tool"
10:55 am - 11:00 amDiscussion
11:00 am - 11:25 amAlon Keinan (Cornell University)
"Recent human population growth: rare variants, mutation load, and complex disease"
11:25 am - 11:35 amDiscussion
11:35 am - 11:45 amAbstract Talk 2: Michael Talkowski (Harvard Medical School)
"Whole-genome prenatal sequencing and integrative genomics: Detection of structural variatioRutn from invasive and non-invasive approaches"
11:45 am - 11:50 amDiscussion
11:50 am - 12:00 pmAbstract Talk 3: Ruth McCole (Harvard University)
"Ultraconserved Elements: often disrupted in disease-specific copy number variation, almost never involved in benign CNVs"
12:00 pm - 12:05 pmDiscussion
12:05 pm - 12:15 pmAbstract Talk 4: Jin Billy Li (Stanford University)
"A mammalian atlas of A-to-I RNA editing reveals dynamic spatiotemporal regulation"
12:15 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmCopy Number Variants
7:30 pm - 7:35 pmDiscussion Leader: Nico Katsanis (Duke University)
"Introduction"
7:35 pm - 8:00 pmHeather Mefford (University of Washington)
"The role of copy number variants in epilepsy syndromes"
8:00 pm - 8:10 pmDiscussion
8:10 pm - 8:35 pmEvan Eichler (University of Washington)
"From CNVs to Disease Genes"
8:35 pm - 8:45 pmDiscussion
8:45 pm - 9:10 pmJames Lupski (Baylor College of Medicine)
"Mechanisms for complex genomic rearrangements resulting in genomic disorder associated CNV"
9:10 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
TUESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmFunctional Genomics
9:00 am - 9:05 amDiscussion Leader: George Church (Harvard Medical School)
"Introduction"
9:05 am - 9:30 amBarbara Stranger (University of Chicago)
"Genetic architecture of leukocyte gene expression in healthy humans"
9:30 am - 9:40 amDiscussion
9:40 am - 9:55 amAbstract Talk 1: Magdalena Skipper (Nature Publishing Group)
"The future of scientific publishing"
9:55 am - 10:00 amDiscussion
10:00 amCoffee Break
10:30 am - 10:55 amDavid Valle (Johns Hopkins University)
"Lessons from Mendelian disease"
10:55 am - 11:05 amDiscussion
11:05 am - 11:30 amRichard Myers (Hudson Alpha Institute for Biotechnology)
"Integration of functional genomics and genetic variation to understand human biology and disease"
11:30 am - 11:40 amDiscussion
11:40 am - 11:50 amAbstract Talk 2: Pamela Long (Mayo Clinic)
"Discovering the Molecular Basis for Pediatric Dilated Cardiomyopathy by Exome Sequencing and Zebrafish Modeling"
11:50 am - 11:55 amDiscussion
11:55 am - 12:05 pmAbstract Talk 3: Fowzan Alkuraya (KFSHRC, Alfaisal University)
"Embryonic lethal or no phenotype: What autozygome can teach us about loss of function in the human genome"
12:05 pm - 12:10 pmDiscussion
12:10 pm - 12:20 pmAbstract Talk 4: Ron Davis (The Scripps Research Institute)
"Cyclic AMP signaling and bipolar disorder"
12:20 pm - 12:25 pmDiscussion
12:25 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmIntegrating Human and Functional Genomics
7:30 pm - 7:35 pmDiscussion Leader: Robert Darnell (Rockefeller University)
"Introduction"
7:35 pm - 8:00 pmNico Katsanis (Duke University)
"Modeling the Morbid Pediatric Genome"
8:00 pm - 8:10 pmDiscussion
8:10 pm - 8:35 pmGreg Crawford (Duke University)
"Comparative chromatin analyses to identify functional non-coding variants in human"
8:35 pm - 8:45 pmDiscussion
8:45 pm - 9:10 pmNancy Cox (University of Chicago)
"Functional Variation and the Concentration of Heritability in Common Diseases and Complex Human Traits"
9:10 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
WEDNESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmComplex Trait Genetics
9:00 am - 9:05 amDiscussion Leader: Carlos Bustamante
"Introduction"
9:05 am - 9:30 amDavid Altshuler (The Broad Institute)
"Genetics of Type 2 Diabetes"
9:30 am - 9:40 amDiscussion
9:40 am - 10:05 amAnne Bowcock (Imperial College London)
"The genetics of ocular melanoma"
10:05 am - 10:15 amDiscussion
10:15 amCoffee Break
10:25 am - 10:35 amAbstract Talk 1: Erin Heinzen (Duke University)
"Somatic mutations in malformations of cortical development"
10:35 am - 10:40 amDiscussion
10:40 am - 10:50 amAbstract Talk 2: Katherine Grabek (University of Colorado)
"Characterizing the brown adipose transcriptome of a hibernator in order to devise a novel treatment strategy for human obesity"
10:50 am - 10:55 amDiscussion
10:55 am - 11:20 amLynn Jorde (University of Utah)
"Whole genome sequencing and complex disease"
11:20 am - 11:30 amDiscussion
11:30 am - 11:55 amMary Relling (St. Jude Children's Research hospital)
"Clinical Implementation of Pharmacogenomics"
11:55 am - 12:05 pmDiscussion
12:05 pm - 12:15 pmAbstract Talk 3: Anne Goriely (University of Oxford)
"Selfish selection of de novo mutations in the paternal germline: implications for human disease"
12:15 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:00 pm - 7:30 pmBusiness Meeting
Nominations for the next Vice Chair; Fill out Conference Evaluation Forms; Discuss future Site & Scheduling preferences; Election of the next Vice Chair
7:30 pm - 9:30 pmInterpreting Genome Sequences
7:30 pm - 7:35 pmDiscussion Leader: James Lupski (Baylor College of Medicine)
"Introduction"
7:35 pm - 8:00 pmGeorge Church (Harvard Medical School)
"CRISPR & FISSEQ to connect causal chains"
8:00 pm - 8:10 pmDiscussion
8:10 pm - 8:35 pmJay Shendure (University of Washington)
"A general framework for prioritizing variants in human genome sequencing"
8:35 pm - 8:45 pmDiscussion
8:45 pm - 9:10 pmRobert Darnell (Rockefeller University)
"Next Generation Genomics"
9:10 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
THURSDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmGenetics and Therapeutics
9:00 am - 9:05 amDiscussion Leader: David Page (Whitehead Institute, Massachusetts Institute of Technology)
"Introduction"
9:05 am - 9:30 amSusan Slaugenhaupt (Massachusetts General Hospital)
"The Ups and Downs of Academic Drug Discovery"
9:30 am - 9:40 amDiscussion
9:40 am - 9:55 amJoseph Gleeson (University of California, San Diego)
"Identifying Treatments for Pediatric Brain Diseases through Genomics"
9:55 am - 10:00 amDiscussion
10:00 amCoffee Break
10:30 am - 10:55 amDavid Goldstein (Duke University)
"Epi4K and the genetics of the epilepsies"
10:55 am - 11:05 amDiscussion
11:05 am - 11:30 amRichard Lifton (Yale University)
"Gene discovery as a route to new diagnostics and therapeutics"
11:30 am - 11:40 amDiscussion
11:40 am - 11:50 amAbstract Talk 1: Leonard Lipovich (Wayne State University School of Medicine)
"Primate-specific long non-coding RNA genes regulate cellular states in human disease"
11:50 am - 11:55 amDiscussion
11:55 am - 12:05 pmAbstract Talk 2: Claudia Gonzaga-Jauregui (Baylor College of Medicine)
"Exome sequencing unveils novel disease causing variation in a Charcot-Marie-Tooth disease cohort"
12:05 pm - 12:10 pmDiscussion
12:10 pm - 12:20 pmAbstract Talk 3: Yuval Itan (Rockefeller University)
"Cohort-wide automated identification of morbid alleles with the human gene connectome"
12:20 pm - 12:25 pmDiscussion
12:25 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmGenetic Individuality in Health and Disease
Discussion Leader: Nancy Cox (University of Chicago)
7:30 pm - 8:10 pmDaniel Geschwind (University of California, Los Angeles)
"How Integration of Autism Genetics and Transcriptional Networks Informs our Understanding of Autism Neurobiology"
8:10 pm - 8:30 pmDiscussion
8:30 pm - 9:10 pmMaynard Olson (University of Washington)
"Less is more revisited - the genetics of exceptional human traits"
9:10 pm - 9:30 pmDiscussion
FRIDAY
7:30 am - 8:30 amBreakfast
9:00 amDeparture

 
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