Sunday |
2:00 pm - 9:00 pm | Arrival and Check-in |
6:00 pm | Dinner |
7:30 pm - 7:40 pm | Welcome / Introductory Comments by GRC Site Staff |
7:40 pm - 9:30 pm | Keynote Session: From Genome Discovery to Translation |
| Discussion Leader: Nancy Cox (Vanderbilt University, USA) |
7:40 pm - 7:45 pm | Opening Remarks |
7:45 pm - 8:25 pm | Nicholas Katsanis (Duke University, USA) "The Genetic Architecture of Rare Disease" |
8:25 pm - 8:35 pm | Discussion |
8:35 pm - 9:15 pm | Jay Shendure (University of Washington, USA) "Next-Generation Genetics: New Challenges and New Approaches" |
9:15 pm - 9:30 pm | Discussion |
Monday |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Conundrums at the Clinical and Translational Interface |
| Discussion Leader: Bruce Conklin (University of California, San Francisco, USA) |
9:00 am - 9:35 am | Mary Relling (St. Jude Children's Research Hospital, USA) "When Is a Pharmacogene Ready for Use in the Clinic?" |
9:35 am - 9:50 am | Discussion |
9:50 am - 10:25 am | Heidi Rehm (Brigham and Womens Hospital / Harvard Medical School, USA) "Supporting Genomics in the Practice of Medicine" |
10:25 am - 10:40 am | Discussion |
10:40 am - 11:10 am | Coffee Break |
11:10 am - 11:20 am | Harrison Brand (Harvard Medical School / Massachusetts General Hospital, USA) "The Landscape of Structural Variation in Autism" |
11:20 am - 11:25 am | Discussion |
11:25 am - 12:00 pm | Anna Gloyn (University of Oxford, United Kingdom) "Unraveling Causal Mechanisms for Diabetes" |
12:00 pm - 12:15 pm | Discussion |
12:15 pm - 12:25 pm | Joanne Cole (University of Colorado, Anschutz Medical Campus, USA) "Genetic Determinants of Normal Human Facial Variation" |
12:25 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 | Progress in Precision Medicine |
| Discussion Leader: Mary Relling (St. Jude Children's Research Hospital, USA) |
7:30 pm - 7:40 pm | Michael Talkowski (Massachusetts General Hospital, USA) "Engineering Recurrent, Reciprocal Genomic Disorders Using CRISPR/Cas9 in Human iPS Cells" |
7:40 pm - 7:45 pm | Discussion |
7:45 pm - 8:20 pm | David Goldstein (Columbia University, USA) "Precision Medicine in Neurodevelopmental Disease" |
8:20 pm - 8:35 pm | Discussion |
8:35 pm - 9:10 pm | Susan Slaugenhaupt (Massachusetts General Hospital, USA) "Targeting mRNA Splicing to Treat Genetic Disease" |
9:10 pm - 9:25 pm | Discussion |
9:25 pm - 9:30 pm | General Discussion |
Tuesday |
7:30 am - 8:30 am | Breakfast |
8:30 am | Group Photo |
9:00 am - 12:30 pm | Getting from Discovery to Understanding: Molecular Methods and Progress |
| Discussion Leader: Eleazar Eskin (University of California, Los Angeles, USA) |
9:00 am - 9:35 am | Bruce Conklin (University of California, San Francisco, USA) "Precise Genome Engineering in Human IPS Cells for Disease Modelling and Therapy" |
9:35 am - 9:50 am | Discussion |
9:50 am - 10:25 am | Len Pennacchio (Lawrence Berkeley National Laboratory, USA) "Assessing Human Genome Function In Vivo" |
10:25 am - 10:40 am | Discussion |
10:40 am - 11:10 am | Coffee Break |
11:10 am - 11:20 am | Gholson Lyon (Cold Spring Harbor Laboratory, USA) "Optimized Sequencing Leading to New Human Genetic Syndromes Involving Transcription, Translation, and Protein Degradation" |
11:20 am - 11:25 am | Discussion |
11:25 am - 12:00 pm | Nelson Freimer (University of California, Los Angeles, USA) "A Full-Service Model: Non-Human Primate Genetics Comes of Age" |
12:00 pm - 12:15 pm | Discussion |
12:15 pm - 12:25 pm | Angel Mak (University of California, San Francisco, USA) "De Novo Genome Assembly and Structural Variation Detection by Genome Mapping on Nanochannel Arrays" |
12:25 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 | Getting from Discovery to Understanding: Statistical Methods and Progress |
| Discussion Leader: Nelson Freimer (University of California, Los Angeles, USA) |
7:30 pm - 7:40 pm | Ina Kycia (The Jackson Laboratory for Genomic Medicine, USA) "Fine-Mapping and Functional Genomic Analyses Link an Evolutionarily Conserved C2CD4A/B Locus Islet Stretch Enhancer to Islet Dysfunction and Type 2 Diabetes" |
7:40 pm - 7:45 pm | Discussion |
7:45 pm - 8:20 pm | Benjamin Neale (Massachusetts General Hospital / Harvard Medical School, USA) "Common Variation Reveals the Structure of Clinical Phenotypes" |
8:20 pm - 8:35 pm | Discussion |
8:35 pm - 9:10 pm | Sek Kathiresan (Broad Institute / Harvard Medical School, USA) "The Human Knock-Out Project: Moving from Concept to Data" |
9:10 pm - 9:25 pm | Discussion |
9:25 pm - 9:30 pm | General Discussion |
Wednesday |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | When Do We Have Enough Data? |
| Discussion Leader: Benjamin Neale (Massachusetts General Hospital / Harvard Medical School, USA) |
9:00 am - 9:35 am | Eleazar Eskin (University of California, Los Angeles, USA) "Heterogeneity in Meta-Analysis" |
9:35 am - 9:50 am | Discussion |
9:50 am - 10:25 am | Nancy Cox (Vanderbilt University, USA) "Data Integration: Transcriptomes, Genomes and Electronic Medical Records" |
10:25 am - 10:40 am | Discussion |
10:40 am - 11:10 am | Coffee Break |
11:10 am - 11:20 am | Anne O'Donnell Luria (Boston Children's Hospital, USA) "Interpreting Human Genetic Variation: Lessons from over 60,000 Human Exomes" |
11:20 am - 11:25 am | Discussion |
11:25 am - 12:00 pm | Jeff Leek (Johns Hopkins Bloomberg School of Public Health, USA) "If I Calculate More P-Values, Do I Have to Adjust for Multiple Testing: Defining a New Fase Discovery Rate for Science" |
12:00 pm - 12:15 pm | Discussion |
12:15 pm - 12:25 pm | Gina Peloso (Massachusetts General Hospital, USA) "An Exome-Wide Association Study for Plasma Lipids in over 300,000 Individuals" |
12:25 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 in Conference Evaluation Forms; Discuss Future Site and Scheduling Preferences; Election of the Next Vice Chair |
7:30 pm - 9:30 pm | Population Genetics: Mutation, Selection, and Demography |
| Discussion Leader: David Goldstein (Columbia University, USA) |
7:30 pm - 7:40 pm | Yuval Itan (The Rockefeller University, USA) "New Gene-Level Approaches to Identify Disease-Causing Mutations in Patients' High-Throughput Sequencing Data" |
7:40 pm - 7:45 pm | Discussion |
7:45 pm - 8:20 pm | Molly Przeworski (Columbia University, USA) "What We Still Don't Know About Human Mutation" |
8:20 pm - 8:35 pm | Discussion |
8:35 pm - 9:10 pm | Carlos Bustamante (Stanford University, USA) "Opportunities and Challenges in Population Genomics and Human Identification" |
9:10 pm - 9:25 pm | Discussion |
9:25 pm - 9:30 pm | General Discussion |
Thursday |
7:30 am - 8:30 am | Breakfast |
9:00 am - 12:30 pm | Sex, Context, and Controversy |
| Discussion Leader: Molly Przeworski (Columbia University, USA) |
9:00 am - 9:35 am | David Page (Whitehead Institute, USA) "Sex and Disease: Do Males and Females Read Their Genomes Differently?" |
9:35 am - 9:50 am | Discussion |
9:50 am - 10:25 am | Barbara Stranger (University of Chicago, USA) "Sex-Specific Genetic Architecture of the Human Transcriptome" |
10:25 am - 10:40 am | Discussion |
10:40 am - 11:10 am | Coffee Break |
11:10 am - 11:20 am | Alexandra Fish (Vanderbilt University, USA) "Are Genetic Interactions Influencing Gene Expression Evidence for Biological Epistasis or Statistical Artifacts?" |
11:20 am - 11:25 am | Discussion |
11:25 am - 12:00 pm | Chris Gunter (Marcus Autism Center, USA) "Writing Science to Be Read: More than 'Just the Facts'" |
12:00 pm - 12:15 pm | Discussion |
12:15 pm - 12:25 pm | Christopher Cassa (Brigham and Women's Hospital / Harvard Medical School, USA) "Estimating the Selective Effect for Each Gene Using Large Scale Population Data" |
12:25 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 | Keynote Session: From Clan Genomics to Cancer Biology |
| Discussion Leader: Carlos Bustamante (Stanford University, USA) |
7:30 pm - 7:35 pm | Introduction by Discussion Leader |
7:35 pm - 8:15 pm | James Lupski (Baylor College of Medicine, USA) "Clinical Genomics = Personal Genomics + Clan Genomics" |
8:15 pm - 8:30 pm | Discussion |
8:30 pm - 9:10 pm | Haig Kazazian (Johns Hopkins School of Medicine, USA) "A Potential Role for Mobile DNA in Tumorigenesis" |
9:10 pm - 9:25 pm | Discussion |
9:25 pm - 9:30 pm | Closing Remarks |
Friday |
7:30 am - 8:30 am | Breakfast |
9:00 am | Departure |