SUNDAY |
2:00 pm - 9:00 pm | Arrival and Check-in (Office Closed 6:00 pm - 7:00 pm) |
6:00 pm | Dinner |
7:30 pm - 7:40 pm | Welcome / Introductory Comments by GRC Site Staff |
7:40 pm - 7:55 pm | Chair's Opening Comments and Welcome |
7:55 pm - 9:30 pm | Landscape Setting Keynotes: "Contemplating the Future with Our Genome in Hand" |
| Discussion Leader: Susan A. Slaugenhaupt (Massachusetts General Hospital) |
7:55 pm - 8:35 pm | David Ginsburg (University of Michigan Medical School) "Bringing genetics/genomics to the clinic: what, where, and when?" |
8:35 pm - 8:45 pm | Discussion |
8:45 pm - 9:25 pm | Richard Gibbs (Baylor College of Medicine) "Sequencing on a REALLY large scale...a different world or just more?" |
9:25 pm - 9:30 pm | Discussion |
9:30 pm | Welcome Reception |
MONDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Interpretation and Application of Genome Data |
| Discussion Leader: Aravinda Chakravarti (Johns Hopkins University School of Medicine) |
9:00 am - 9:05 am | Introduction / Overview |
9:05 am - 9:30 am | Richard Durbin (Wellcome Trust Sanger Institute)
"Strategies for whole genome sequence genetics in phenotyped samples" |
9:30 am - 9:40 am | Discussion |
9:40 am - 10:05 am | Gonçalo Abecasis (University of Michigan School of Public Health) "Sequencing thousands of human genomes" |
10:05 am - 10:15 am | Discussion |
10:15 am - 10:50 am | Coffee Break and Group Photo |
10:50 am - 11:00 am | Abstract 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
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11:00 am - 11:05 am | Discussion |
11:05 am - 11:30 am | David Goldstein (Duke University Medical Center) "Identification and confirmation of pathogenic variants in genome wide sequence data" |
11:30 am - 11:40 am | Discussion |
11:40 am - 11:50 am | Abstract Talk 2: Andreas Schlattl (EMBL Heidelberg)
"Relating CNVs to transcriptome data at fine resolution" |
11:50 am - 11:55 am | Discussion |
11:55 am - 12:20 pm | Nancy Cox (University of Chicago) "Integration of information for making and characterizing discoveries" |
12:20 pm - 12:30 pm | Discussion |
12:30 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Functional Evaluation of Complex Traits |
| Discussion Leader: Steven Warren (Emory University School of Medicine) |
7:30 pm - 7:35 pm | Introduction / Overview |
7:35 pm - 8:00 pm | Aravinda 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 pm | David 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 pm | Abstract Talk 1: Angela Huang (University of California, San Francisco) "Novel human mutations for Familial Advanced Sleep Phase Syndrome" |
8:55 pm - 9:00 pm | Discussion |
9:00 pm - 9:25 pm | Anne Bowcock (Washington University School of Medicine) "NexGen sequencing and complex disease" |
9:25 pm - 9:30 pm | Discussion |
9:30 pm | Social Gathering and Discussion |
TUESDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Repeats, Chromosomes, and Diversity |
| Discussion Leader: James Lupski (Baylor College of Medicine) |
9:00 am - 9:05 am | Introduction / Overview |
9:05 am - 9:30 am | Jeanne 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 am | Discussion |
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 am | Discussion |
9:55 am - 10:20 am | Wendy Bickmore (Western General Hospital, Edinburgh, UK) "Does nuclear organization matter for genome function?" |
10:20 am - 10:30 am | Discussion |
10:30 am - 11:00 am | Coffee Break |
11:00 am - 11:10 am | Abstract 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 am | Discussion |
11:15 am - 11:40 am | David Page (Whitehead Institute) "Y chromosome diversity" |
11:40 am - 11:50 am | Discussion |
11:50 am - 12:00 pm | Abstract 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 pm | Discussion |
12:05 pm - 12:30 pm | Closing Discussion |
12:30 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Model Systems and Inheritance |
| Discussion Leader: James Gusella (Massachusetts General Hospital) |
7:30 pm - 7:35 pm | Introduction / Overview |
7:35 pm - 8:00 pm | Joseph Nadeau (Institute for Systems Biology) "Transgenerational genetic effects on phenotypic variation and disease risk" |
8:00 pm - 8:10 pm | Discussion |
8:10 pm - 8:20 pm | Abstract Talk 1: Erica Davis (Duke University Medical School) "The mutational load of the intraflagellar transport complex in ciliopathies" |
8:20 pm - 8:25 pm | Discussion |
8:25 pm - 8:50 pm | Catherine Dulac (Harvard University) "Parental genomic influence in the rodent brain" |
8:50 pm - 9:00 pm | Discussion |
9:00 pm - 9:10 pm | Abstract Talk 2: Catia Attanasio (Lawrence Berkeley National Laboratory) "Mouse genome engineering for identification of in vivo enhancers" |
9:10 pm - 9:15 pm | Discussion |
9:15 pm - 9:30 pm | Closing Discussion |
9:30 pm | Social Gathering and Discussion |
WEDNESDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Mendelian Lessons for Complex Disease |
| Discussion Leader: David Nelson (Baylor College of Medicine) |
9:00 am - 9:05 am | Introduction / Overview |
9:05 am - 9:30 am | Richard Lifton (Yale University Department of Genetics) "Disease gene discovery via whole exome sequencing" |
9:30 am - 9:40 am | Discussion |
9:40 am - 10:05 am | Steven Warren (Emory University School of Medicine) "An unanticipated and surprising new function for FMRP" |
10:05 am - 10:15 am | Discussion |
10:15 am - 10:45 am | Coffee Break |
10:45 am - 11:00 am | Abstract 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 am | Discussion |
11:05 am - 11:30 am | James Gusella (Massachusetts General Hospital) "Huntington's disease: a complex Mendelian disorder" |
11:30 am - 11:40 am | Discussion |
11:40 am - 11:50 am | Abstract 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 am | Discussion |
11:55 am - 12:20 pm | Robert Brown
(University of Massachusetts Medical School) "ALS genetics: update and implications for therapy" |
12:20 pm - 12:30 pm | Discussion |
12:30 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:00 pm - 7:30 pm | Business 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 pm | Copy Number Variation and Disease |
| Discussion Leader: Nicholas Katsanis (Duke University Medical Center) |
7:30 pm - 7:35 pm | Introduction / Overview |
7:35 pm - 8:00 pm | Evan Eichler (University of Washington) "Disease, structural variation and evolution of the human genome" |
8:00 pm - 8:10 pm | Discussion |
8:10 pm - 8:35 pm | David Ledbetter (Geisinger Health System) "Determining functional and clinical significance of CNVs using routine patient data" |
8:35 pm - 8:45 pm | Discussion |
8:45 pm - 8:55 pm | Abstract 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 pm | Discussion |
9:00 pm - 9:25 pm | James Lupski (Baylor College of Medicine) "Triplication, noitacilpirT, Triplication; phenotypic consequences of incremental dosage increases and genome orientation" |
9:25 pm - 9:30 pm | Discussion |
9:30 pm | Social Gathering and Discussion |
THURSDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Therapeutics and Clinical Applications |
| Discussion Leader: Richard Lifton (Yale University Department of Genetics) |
9:00 am - 9:05 am | Introduction / Overview |
9:05 am - 9:30 am | Nicholas Katsanis (Duke University Medical Center) "Annotating the Morbid Human Genome" |
9:30 am - 9:40 am | Discussion |
9:40 am - 10:05 am | Susan Slaugenhaupt (Massachusetts General Hospital) "Modification of mRNA splicing in human disease" |
10:05 am - 10:15 am | Discussion |
10:15 am - 10:45 am | Coffee Break |
10:45 am - 11:00 am | Abstract 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 am | Discussion |
11:05 am - 11:30 am | Andrea 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 am | Discussion |
11:40 am - 11:50 am | Abstract 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 am | Discussion |
11:55 am - 12:20 pm | Les Biesecker (National Institutes of Health) "New opportunities in clinical genomics: Hypothesis-generating clinical research and clinical annotation of genomes" |
12:20 pm - 12:30 pm | Discussion |
12:30 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Closing Keynotes: Are we ready for primetime? |
| Discussion Leader: David Goldstein (Duke University Medical Center) |
7:30 pm - 7:35 pm | Introduction / Overview |
7:35 pm - 8:05 pm | Eric Green (National Institutes of Health) "Charting a course for genomic medicine" |
8:05 pm - 8:15 pm | Discussion |
8:15 pm - 9:00 pm | David Altshuler (Broad Institute) "Genome sequence variation and human disease" |
9:00 pm - 9:30 pm | Discussion |
9:30 pm | Farewell Reception |
FRIDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am | Departure |