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 - 9:30 pm | Landscape Setting Talks: "The Future of Human Genetics and Genomics" |
| Chair & Discussion Leader: Evan Eichler (University of Washington) |
7:45 pm - 8:20 pm | Mary-Claire King (University of Washington) "Genetic basis of human disease" |
8:20 pm - 8:35 pm | Discussion |
8:35 pm - 9:10 pm | Eric Lander (The Broad Institute) "The Future of Genetics & Genomics" |
9:10 pm - 9:30 pm | Discussion |
MONDAY |
7:30 am - 8:30 am | Breakfast |
8:30 am | Group Photo |
9:00 am - 12:30 pm | Genetics of Human Disease |
| Discussion Leader: Mary-Claire King (University of Washington) |
9:00 am - 9:20 am | Aravinda Chakravarti (Johns Hopkins University) "Genes for the QT interval and sudden death" |
9:20 am - 9:30 am | Discussion |
9:30 am - 9:50 am | David Altshuler (The Broad Institute) "Genetics of type 2 diabetes" |
9:50 am - 10:00 am | Discussion |
10:00 am | Coffee Break |
10:30 am - 10:50 am | David Goldstein (Duke University) "The role of rare and common gene variants in human disease" |
10:50 am - 11:00 am | Discussion |
11:00 am - 11:20 am | Anne Bowcock (Washington University) "Genetics of psoriasis and psoriatic arthritis" |
11:20 am - 11:30 am | Discussion |
11:30 am - 11:40 am | Selected abstract talk:
Sekar Kathiresan (Massachusetts General Hospital)
"DNA sequence variants related to plasma high-density lipoprotein cholesterol and risk of myocardial infarction" |
11:40 am - 11:45 am | Discussion |
11:45 am - 12:30 pm | General Discussion |
12:30 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session I |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Human Evolution and Diversity |
| Discussion Leader: Aravinda Chakravarti (Johns Hopkins University School of Medicine) |
7:30 pm - 7:50 pm | Jim Noonan (Yale University) "Genome-wide identification and characterization of human-specific developmental regulatory functions" |
7:50 pm - 8:00 pm | Discussion |
8:00 pm - 8:20 pm | Carlos Bustamante (Cornell University) "Population genetics for the personal genomics era" |
8:20 pm - 8:30 pm | Discussion |
8:30 pm - 8:50 pm | Rick Sturm (The University of Queensland) "Genes for human pigmentation diversity" |
8:50 pm - 9:00 pm | Discussion |
9:00 pm - 9:10 pm | Selected abstract talk: Gill Bejerano (Stanford University) "Human-specific loss of regulatory DNA and the evolution of human-specific traits" |
9:10 pm - 9:15 pm | Discussion |
9:15 pm - 9:25 pm | Selected abstract talk: Philip D. Stahl (Washington University) "TBC1D3- a hominoid specific gene that enhances cell proliferation" |
9:25 pm - 9:30 pm | Discussion |
TUESDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Chromosome Dynamics |
| Discussion Leader: Evan Eichler (University of Washington) |
9:00 am - 9:20 am | Gil McVean (University of Oxford) "Allelic and non-allelic homologous recombination in genome evolution" |
9:20 am - 9:30 am | Discussion |
9:30 am - 9:50 am | Hunt Willard (Duke University) "What code connects genome sequence to epigenetic patterns?" |
9:50 am - 10:00 am | Discussion |
10:00 am | Coffee Break |
10:30 am - 10:50 am | Wendy Bickmore (Western General Hospital) "Spatial nuclear organisation and the regulation of human gene expression" |
10:50 am - 11:00 am | Discussion |
11:00 am - 11:20 am | Haig Kazazian (University of Pennsylvania) "Biology of human L1 retrotransposons" |
11:20 am - 11:30 am | Discussion |
11:30 am - 11:40 am | Selected abstract talk: Chao-Ting Wu (Harvard Medical School)
"Studies of homolog pairing and ultraconserved elements" |
11:40 am - 11:45 am | Discussion |
11:45 am - 11:55 am | Selected abstract talk: Grace Hobson (A.I. duPont Hospital for Children)
"Junction analysis of genomic rearrangements in Pelizaeus-Merzbacher disease suggests a DNA repair-based mechanism" |
11:55 am - 12:00 pm | Discussion |
12:00 pm - 12:30 pm | General Discussion |
12:30 pm | Lunch |
1:30 pm - 6:00 pm | Free Time |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Copy Number Variation and Disease |
| Discussion Leader: David Goldstein (Duke University) |
7:30 pm - 7:50 pm | Jim Lupski (Baylor College of Medicine) "Genomic disorders: Mechanisms and assays for CNVs in human disease" |
7:50 pm - 8:00 pm | Discussion |
8:00 pm - 8:20 pm | Evan Eichler (University of Washington) "Duplication Architecture, Disease and Evolution" |
8:20 pm - 8:30 pm | Discussion |
8:30 pm - 8:50 pm | Steve Scherer (Hospital for Sick Children and University of Toronto) "Implicating copy number variations in autism spectrum disorders" |
8:50 pm - 9:00 pm | Discussion |
9:00 pm - 9:30 pm | General Discussion |
WEDNESDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Personalized Genomes and Genome Technology |
| Discussion Leader: Len Pennacchio (Lawrence Berkeley National Laboratory) |
9:00 am - 9:20 am | George Church (Harvard Medical School) "Personalized genomics and emerging technologies" |
9:20 am - 9:30 am | Discussion |
9:30 am - 9:50 am | Debbie Nickerson (University of Washington) "Sequencing the human exome" |
9:50 am - 10:00 am | Discussion |
10:00 am | Coffee Break |
10:30 am - 10:50 am | Gonçalo Abecasis (Center for Statistical Genetics) "Sequencing 1,000s of Genomes" |
10:50 am - 11:00 am | Discussion |
11:00 am - 11:20 am | Eric Green (National Human Genome Research Institute, NIH) "Infusing large-scale genome sequencing into the clinical research enterprise" |
11:20 am - 11:30 am | Discussion |
11:30 am - 11:40 am | Selected abstract talk: Jin Billy Li (Harvard Medical School) "Targeted sequencing of human genomes, transcriptomes and methylomes" |
11:40 am - 11:45 am | Discussion |
11:45 am - 12:30 pm | General Discussion |
12:30 pm | Lunch |
1:30 pm - 4:00 pm | Free Time |
4:00 pm - 6:00 pm | Poster Session II |
6:00 pm | Dinner |
7:00 pm - 7:30 pm | Business Meeting |
| (Nominations and election of the next Vice Chair; Fill out conference evaluation forms; Discuss future site & scheduling preferences) |
7:30 pm - 9:30 pm | Functional Characterization of the Human Genome |
| Discussion Leader: Hunt Willard (Duke University) |
7:30 pm - 7:50 pm | Len Pennacchio (Lawrence Berkeley National Laboratory) "Large-scale identification of tissue-specific enhancers in vivo" |
7:50 pm - 8:00 pm | Discussion |
8:00 pm - 8:20 pm | Vivian Cheung (University of Pennsylvania) "Genetics of natural variation in human gene expression" |
8:20 pm - 8:30 pm | Discussion |
8:30 pm - 8:50 pm | Rick Myers (HudsonAlpha Institute for Biotechnology) "Global analysis of transcriptional regulation in human cells" |
8:50 pm - 9:00 pm | Discussion |
9:00 pm - 9:20 pm | Eran Segal (Weizmann Institute of Science) "Reading the human genome: From DNA sequence to gene regulation" |
9:20 pm - 9:30 pm | Discussion |
THURSDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Models of Disease and Therapeutics |
| Discussion Leader: Rick Lifton (Yale University School of Medicine) |
9:00 am - 9:20 am | Niko Katsanis (Johns Hopkins University Institute of Genetic Medicine)
"The ciliopathies: Insights into disease architecture" |
9:20 am - 9:30 am | Discussion |
9:30 am - 9:50 am | Susan A. Slaugenhaupt (Massachusetts General Hospital)
"From gene to treatment: The example of familial dysautonomia" |
9:50 am - 10:00 am | Discussion |
10:00 am | Coffee Break |
10:30 am - 10:50 am | Stephanie Sherman (Emory University)
"Using Down syndrome to gain insights into congenital heart defects" |
10:50 am - 11:00 am | Discussion |
11:00 am - 11:10 am | Selected abstract talk: Edwin Oh (Johns Hopkins University)
"Wnt and sonic hedgehog signaling in a stem cell model of Patau syndrome" |
11:10 am - 11:15 am | Discussion |
11:15 am - 11:25 am | Selected abstract talk: Ana-Teresa Maia (Cambridge Research Institute CRUK)
"Differential allelic expression as a candidate modifier of BRCA2 risk in breast cancer" |
11:25 am - 11:30 am | Discussion |
11:30 am - 11:40 am | Selected abstract talk: Sarah Calvo (The Broad Institute)
"Widespread translational repression by polymorphic uORFs" |
11:40 am - 11:45 am | Discussion |
11:45 am - 12:30 pm | General Discussion |
12:30 pm | Lunch |
1:30 pm - 6:00 pm | Free Time |
6:00 pm | Dinner |
7:30 pm - 9:30 pm | Closing Keynote |
| Vice Chair & Discussion Leader: Susan A. Slaugenhaupt (Massachusetts General Hospital) |
7:30 pm - 8:30 pm | Rick Lifton (Yale University) "From Genes to Medicine" |
8:30 pm - 9:00 pm | General Discussion |
FRIDAY |
7:30 am - 8:30 am | Breakfast |
9:00 am | Departure |