Gordon Research Conferences
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Conference Program
 
Human Genetics & Genomics
July 17-22, 2011
Salve Regina University
Newport, RI

Human genetics is in the midst of a revolution. With the complete sequencing of several human genomes and the exponential decrease in the cost of whole-genome sequencing, the promise of individual genome sequencing is imminent. Despite these advances, a large fraction of the genetic variation underling human disease and phenotypic variation remains unexplained. 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 summarize the major advances in our understanding of the organization and function of our genome, discuss new insights into human genetic diversity and highlight the application of new sequencing technologies. 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 (Office Closed 6:00 pm - 7:00 pm)
6:00 pmDinner
7:30 pm - 7:40 pmWelcome / Introductory Comments by GRC Site Staff
7:40 pm - 7:55 pmChair's Opening Comments and Welcome
7:55 pm - 9:30 pmLandscape Setting Keynotes: "Contemplating the Future with Our Genome in Hand"
Discussion Leader: Susan A. Slaugenhaupt (Massachusetts General Hospital)
7:55 pm - 8:35 pmDavid Ginsburg (University of Michigan Medical School)
"Bringing genetics/genomics to the clinic: what, where, and when?"
8:35 pm - 8:45 pmDiscussion
8:45 pm - 9:25 pmRichard Gibbs (Baylor College of Medicine)
"Sequencing on a REALLY large scale...a different world or just more?"
9:25 pm - 9:30 pmDiscussion
9:30 pm Welcome Reception
MONDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmInterpretation and Application of Genome Data
Discussion Leader: Aravinda Chakravarti (Johns Hopkins University School of Medicine)
9:00 am - 9:05 amIntroduction / Overview
9:05 am - 9:30 amRichard Durbin (Wellcome Trust Sanger Institute)
"Strategies for whole genome sequence genetics in phenotyped samples"
9:30 am - 9:40 amDiscussion
9:40 am - 10:05 amGonçalo Abecasis (University of Michigan School of Public Health)
"Sequencing thousands of human genomes"
10:05 am - 10:15 amDiscussion
10:15 am - 10:50 amCoffee Break and Group Photo
10:50 am - 11:00 amAbstract Talk 1: Ron Do (Massachusetts General Hospital)
"Rare coding mutations and risk for early-onset myocardial infarction: an exome sequencing study of >2,000 cases and controls
11:00 am - 11:05 amDiscussion
11:05 am - 11:30 amDavid Goldstein (Duke University Medical Center)
"Identification and confirmation of pathogenic variants in genome wide sequence data"
11:30 am - 11:40 amDiscussion
11:40 am - 11:50 amAbstract Talk 2: Andreas Schlattl (EMBL Heidelberg)
"Relating CNVs to transcriptome data at fine resolution"
11:50 am - 11:55 amDiscussion
11:55 am - 12:20 pmNancy Cox (University of Chicago)
"Integration of information for making and characterizing discoveries"
12:20 pm - 12:30 pmDiscussion
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 pmFunctional Evaluation of Complex Traits
Discussion Leader: Steven Warren (Emory University School of Medicine)
7:30 pm - 7:35 pmIntroduction / Overview
7:35 pm - 8:00 pmAravinda Chakravarti (Johns Hopkins University School of Medicine)
"Hirschsprung disease: genetic defects of the second brain"
8:00 pm - 8:10 pm Discussion
8:10 pm - 8:35 pmDavid Nelson (Baylor College of Medicine)
"Twenty years of lessons from the Fragile X locus"
8:35 pm - 8:45 pm Discussion
8:45 pm - 8:55 pmAbstract Talk 1: Angela Huang (University of California, San Francisco)
"Novel human mutations for Familial Advanced Sleep Phase Syndrome"
8:55 pm - 9:00 pmDiscussion
9:00 pm - 9:25 pmAnne Bowcock (Washington University School of Medicine)
"NexGen sequencing and complex disease"
9:25 pm - 9:30 pmDiscussion
9:30 pmSocial Gathering and Discussion
TUESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmRepeats, Chromosomes, and Diversity
Discussion Leader: James Lupski (Baylor College of Medicine)
9:00 am - 9:05 amIntroduction / Overview
9:05 am - 9:30 amJeanne Lawrence (University of Massachusetts Medical School)
"Unexpected roles of repeat DNAs and RNAs in chromosome structure and epigenetic dysregulation in disease"
9:30 am - 9:40 amDiscussion
9:40 am - 9:50 am Abstract Talk 1: Candace Middlebrooks (Emory University)
"Aberrant recombination in trisomy 21 nondisjunction is associated with differential hot spot usage"
9:50 am - 9:55 amDiscussion
9:55 am - 10:20 amWendy Bickmore (Western General Hospital, Edinburgh, UK)
"Does nuclear organization matter for genome function?"
10:20 am - 10:30 amDiscussion
10:30 am - 11:00 amCoffee Break
11:00 am - 11:10 amAbstract Talk 2: Ivan Gregoretti (NIDDK, National Institutes of Health)
"Genome-wide analysis reveals novel molecular features of mouse recombination hotspots"
11:10 am - 11:15 amDiscussion
11:15 am - 11:40 amDavid Page (Whitehead Institute)
"Y chromosome diversity"
11:40 am - 11:50 amDiscussion
11:50 am - 12:00 pmAbstract Talk 3: Gennady Margolin (NIDDK, National Institutes of Health)
"mRNA sequencing of mouse spermatogenesis uncovers novel meiotic genes and isoforms"
12:00 pm - 12:05 pmDiscussion
12:05 pm - 12:30 pmClosing 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 pmModel Systems and Inheritance
Discussion Leader: James Gusella (Massachusetts General Hospital)
7:30 pm - 7:35 pmIntroduction / Overview
7:35 pm - 8:00 pmJoseph Nadeau (Institute for Systems Biology)
"Transgenerational genetic effects on phenotypic variation and disease risk"
8:00 pm - 8:10 pmDiscussion
8:10 pm - 8:20 pmAbstract Talk 1: Erica Davis (Duke University Medical School)
"The mutational load of the intraflagellar transport complex in ciliopathies"
8:20 pm - 8:25 pmDiscussion
8:25 pm - 8:50 pmCatherine Dulac (Harvard University)
"Parental genomic influence in the rodent brain"
8:50 pm - 9:00 pmDiscussion
9:00 pm - 9:10 pmAbstract Talk 2: Catia Attanasio (Lawrence Berkeley National Laboratory)
"Mouse genome engineering for identification of in vivo enhancers"
9:10 pm - 9:15 pmDiscussion
9:15 pm - 9:30 pmClosing Discussion
9:30 pmSocial Gathering and Discussion
WEDNESDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmMendelian Lessons for Complex Disease
Discussion Leader: David Nelson (Baylor College of Medicine)
9:00 am - 9:05 amIntroduction / Overview
9:05 am - 9:30 amRichard Lifton (Yale University Department of Genetics)
"Disease gene discovery via whole exome sequencing"
9:30 am - 9:40 amDiscussion
9:40 am - 10:05 amSteven Warren (Emory University School of Medicine)
"An unanticipated and surprising new function for FMRP"
10:05 am - 10:15 amDiscussion
10:15 am - 10:45 amCoffee Break
10:45 am - 11:00 amAbstract Talk 1: Fowzan Alkuraya (King Faisal Specialist Hospital and Research Center)
"Mendelian and common diseases: building bridges through the autozygome"
11:00 am - 11:05 amDiscussion
11:05 am - 11:30 amJames Gusella (Massachusetts General Hospital)
"Huntington's disease: a complex Mendelian disorder"
11:30 am - 11:40 amDiscussion
11:40 am - 11:50 amAbstract Talk 2: Soumya Raychaudhuri (Harvard Medical School)
"A rare penetrant mutation in CFH confers high risk of age-related macular degeneration"
11:50 am - 11:55 amDiscussion
11:55 am - 12:20 pmRobert Brown (University of Massachusetts Medical School)
"ALS genetics: update and implications for therapy"
12:20 pm - 12:30 pmDiscussion
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 pmCopy Number Variation and Disease
Discussion Leader: Nicholas Katsanis (Duke University Medical Center)
7:30 pm - 7:35 pmIntroduction / Overview
7:35 pm - 8:00 pmEvan Eichler (University of Washington)
"Disease, structural variation and evolution of the human genome"
8:00 pm - 8:10 pmDiscussion
8:10 pm - 8:35 pmDavid Ledbetter (Geisinger Health System)
"Determining functional and clinical significance of CNVs using routine patient data"
8:35 pm - 8:45 pmDiscussion
8:45 pm - 8:55 pmAbstract Talk 1: Michael Talkowski (Massachusetts General Hospital)
"The complex genetic architecture of chromosomal rearrangements in autism and other neurodevelopmental disorders"
8:55 pm - 9:00 pmDiscussion
9:00 pm - 9:25 pmJames Lupski (Baylor College of Medicine)
"Triplication, noitacilpirT, Triplication; phenotypic consequences of incremental dosage increases and genome orientation"
9:25 pm - 9:30 pmDiscussion
9:30 pmSocial Gathering and Discussion
THURSDAY
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmTherapeutics and Clinical Applications
Discussion Leader: Richard Lifton (Yale University Department of Genetics)
9:00 am - 9:05 amIntroduction / Overview
9:05 am - 9:30 amNicholas Katsanis (Duke University Medical Center)
"Annotating the Morbid Human Genome"
9:30 am - 9:40 amDiscussion
9:40 am - 10:05 amSusan Slaugenhaupt (Massachusetts General Hospital)
"Modification of mRNA splicing in human disease"
10:05 am - 10:15 amDiscussion
10:15 am - 10:45 amCoffee Break
10:45 am - 11:00 amAbstract Talk 1: Grace Hobson (Nemours Biomedical Research)
"A potential therapeutic option for correction of defective alternative splicing in Pelizaeus-Merzbacher disease"
11:00 am - 11:05 amDiscussion
11:05 am - 11:30 amAndrea Ballabio (Telethon Institute of Genetics and Medicine)
"The CLEAR gene network: a tool to modulate cellular clearance in neurodegenerative diseases"
11:30 am - 11:40 amDiscussion
11:40 am - 11:50 amAbstract Talk 2: Elizabeth Worthey (Medical College of Wisconsin)
"Making a definitive diagnosis: successful clinical application of diagnostic whole genome sequencing in children with intractable disease"
11:50 am - 11:55 amDiscussion
11:55 am - 12:20 pmLes Biesecker (National Institutes of Health)
"New opportunities in clinical genomics: Hypothesis-generating clinical research and clinical annotation of genomes"
12:20 pm - 12:30 pmDiscussion
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 pmClosing Keynotes: Are we ready for primetime?
Discussion Leader: David Goldstein (Duke University Medical Center)
7:30 pm - 7:35 pmIntroduction / Overview
7:35 pm - 8:05 pmEric Green (National Institutes of Health)
"Charting a course for genomic medicine"
8:05 pm - 8:15 pmDiscussion
8:15 pm - 9:00 pmDavid Altshuler (Broad Institute)
"Genome sequence variation and human disease"
9:00 pm - 9:30 pmDiscussion
9:30 pmFarewell Reception
FRIDAY
7:30 am - 8:30 amBreakfast
9:00 amDeparture

 
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