Sunday
2:00 pm - 9:00 pm
Arrival and Check-in
6:00 pm - 7:00 pm
Dinner
7:30 pm - 7:40 pm
Introductory Comments by GRC Site Staff / Welcome from the GRC Chair
7:40 pm - 9:30 pm
Challenges and Opportunities in Medical Genomics
Discussion Leader: Nicholas Katsanis (Duke University, USA)
7:40 pm - 7:45 pm
Opening Remarks
7:45 pm - 8:10 pm
Michael Talkowski (Massachusetts General Hospital, USA)
"Sequence-Resolution Association Studies in Autism: Insights into Genetic Architecture and Challenges to Interpretation"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:45 pm
Charles Rotimi (National Human Genome Research Institute, NIH, USA)
"Sustaining the Growing Genomic Success Stories to Ensure Tomorrow’s Medicine for Africans"
8:45 pm - 8:55 pm
Discussion
8:55 pm - 9:20 pm
Cisca Wijmenga (University Medical Center Groningen, The Netherlands)
"Our Second Genome: A Vital Organ Integrating Host Genome and Host Environment"
9:20 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Group Photo
9:00 am - 12:30 pm
The Human Genome: Resource, Commodity, or Both?
Discussion Leader: Gary Churchill (The Jackson Laboratory, USA)
9:00 am - 9:30 am
Leslie Biesecker (National Human Genome Research Institute, USA)
"A Mutation Is Not a Diagnosis: An Integrated Bayesian Approach to Clinical Genomics"
9:30 am - 9:40 am
Discussion
9:40 am - 10:10 am
Christine Seidman (Harvard Medical School, USA)
"Human Genetics: Getting to the Heart of the Matter"
10:10 am - 10:20 am
Discussion
10:20 am - 10:50 am
Coffee Break
10:50 am - 11:20 am
Richard Gibbs (Baylor College of Medicine, USA)
"Precision Medicine and Oligogenics"
11:20 am - 11:30 am
Discussion
11:30 am - 12:00 pm
Shamil Sunyaev (Harvard Medical School, USA)
"Origin of Human Mutation Through the Lens of Sequencing Studies"
12:00 pm - 12:10 pm
Discussion
12:10 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Our Genomes and How They've Evolved
Discussion Leader: Sali Farhan (Harvard Medical School, Massachusetts General Hospital / Broad Institute, USA)
7:30 pm - 8:00 pm
Evan Eichler (University of Washington / Howard Hughes Medical Institute, USA)
"Human Evolution by Segmental Duplication"
8:00 pm - 8:10 pm
Discussion
8:10 pm - 8:40 pm
Eimear Kenny (Icahn School of Medicine at Mount Sinai, USA)
"Embracing Diversity for Improving Genomic Medicine"
8:40 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Elaine Ostrander (National Human Genome Research Institute, NIH, USA)
"People and Their Dogs: The Tales They Tell"
9:20 pm - 9:30 pm
Discussion
Tuesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
The "Other" Genomes: Microbiomes, Epigenomes, and Other Uncomfortable Truths
Discussion Leader: Elaine Ostrander (National Human Genome Research Institute, NIH, USA)
9:00 am - 9:30 am
Ami Bhatt (Stanford University, USA)
"Metagenomics and Medicine (Investigating the Role of Microbial Genes and Gene Products in Human Health)"
9:30 am - 9:40 am
Discussion
9:40 am - 10:10 am
Sharon Plon (Baylor College of Medicine, USA)
"The Expanding Genomic Landscape of Pediatric Cancer"
10:10 am - 10:20 am
Discussion
10:20 am - 10:50 am
Coffee Break
10:50 am - 11:20 am
David Page (Whitehead Institute for Biomedical Research, USA)
"Sex and Disease: Do Males and Females Read Their Genomes Differently?"
11:20 am - 11:30 am
Discussion
11:30 am - 11:45 am
Dawei Li (University of Vermont, USA)
"Identify Novel Oncovirus in Human Cancers Using Whole-Genome Sequencing"
11:45 am - 11:50 am
Discussion
11:50 am - 12:05 pm
Helio Costa (Stanford University, USA)
"Development of a Cloud-Based Comprehensive Cancer Transcriptome Profiling Pipeline for Clinical Diagnostics"
12:05 pm - 12:10 pm
Discussion
12:10 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Big Data, Precision Medicine, and the Transition from the Clinic to the Laptop
Discussion Leader: Eimear Kenny (Icahn School of Medicine at Mount Sinai, USA)
7:30 pm - 8:00 pm
Nancy Cox (Vanderbilt University, USA)
"Using Biobanks for Novel Discovery and Translation"
8:00 pm - 8:10 pm
Discussion
8:10 pm - 8:40 pm
Tuuli Lappalainen (New York Genome Center, Columbia University, USA)
"Functional Variation in the Human Genome: Lessons from the Transcriptome"
8:40 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Geoff Benton (23andMe, USA)
"Predicting BMI: Polygenic Models and Beyond"
9:20 pm - 9:30 pm
Discussion
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Functional Genomics: Progress and Questions of Scaling
Discussion Leader: Michael Talkowski (Massachusetts General Hospital, USA)
9:00 am - 9:30 am
Gary Churchill (The Jackson Laboratory, USA)
"Post-Translational Mechanisms Buffer Protein Abundance Against Transcriptional Variation"
9:30 am - 9:40 am
Discussion
9:40 am - 10:10 am
Emmanouil Dermitzakis (University of Geneva, Switzerland)
"Contribution of Non-Coding DNA to Disease Susceptibility and Cancer"
10:10 am - 10:20 am
Discussion
10:20 am - 10:50 am
Coffee Break
10:50 am - 11:05 am
Charleston Chiang (University of California, Los Angeles, USA)
"Insights to the Genetic Architecture of Cardiometabolic Traits and Population Structure in 20,029 Finnish Exomes"
11:05 am - 11:10 am
Discussion
11:10 am - 11:25 am
Jesper Gådin (Karolinska Institutet, Sweden)
"Allelic Imbalance Method Links Genes to Known Risk Markers Where eQTL Cannot"
11:25 am - 11:30 am
Discussion
11:30 am - 11:45 am
Daniel Jordan (Icahn School of Medicine at Mount Sinai, USA)
"Using Population Genetics Data to Predict Recessive Human Genes"
11:45 am - 11:50 am
Discussion
11:50 am - 12:05 pm
Ashish Kapoor (Johns Hopkins University School of Medicine, USA)
"Functional Enhancers of SCN5A Gene Expression Modulating QT Interval Variation"
12:05 pm - 12:10 pm
Discussion
12:10 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 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
Looking at the Hope and the Hype in Genomic Therapeutics
Discussion Leader: Sekar Kathiresan (Massachusetts General Hospital, USA)
7:30 pm - 8:00 pm
Euan Ashley (Stanford University, USA)
"Dissecting the Molecular Genetics of Inherited Cardiovascular Disease"
8:00 pm - 8:10 pm
Discussion
8:10 pm - 8:40 pm
Susan Slaugenhaupt (Mass General Research Institute, USA)
"Splice Here, Splice There, Splice Everywhere"
8:40 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Tamar Grossman (Ionis Pharmaceuticals, USA)
"Antisense Oligonucleotide Based Therapy for Genetic Diseases"
9:20 pm - 9:30 pm
Discussion
Thursday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Integrating Genetics into the Clinic
Discussion Leader: Sharon Plon (Baylor College of Medicine, USA)
9:00 am - 9:30 am
Sekar Kathiresan (Massachusetts General Hospital, USA)
"Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease"
9:30 am - 9:40 am
Discussion
9:40 am - 10:10 am
James Lupski (Baylor College of Medicine, USA)
"Genomics of Disease"
10:10 am - 10:20 am
Discussion
10:20 am - 10:50 am
Coffee Break
10:50 am - 11:20 am
Taylor Sittler (Color Genomics, USA)
"Low-Cost Hereditary Testing Is Enabling Research"
11:20 am - 11:30 am
Discussion
11:30 am - 11:45 am
Karl Heilbron (23andMe, USA)
"Traits Associated with Parkinson's Disease in a Large and Deeply Phenotyped Cohort"
11:45 am - 11:50 am
Discussion
11:50 am - 12:05 pm
Cheryl Maslen (Oregon Health and Science University, USA)
"The Genetic Basis of Aortopathy in Turner Syndrome"
12:05 pm - 12:10 pm
Discussion
12:10 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Human Genetics and Genomics in 10 Years
Discussion Leader: Carlos Bustamante (Stanford University, USA)
7:30 pm - 7:35 pm
Introduction by Discussion Leader
7:35 pm - 8:05 pm
David Altshuler (Vertex Pharmaceuticals, USA)
"Drug Discovery"
8:05 pm - 8:15 pm
Discussion
8:15 pm - 8:45 pm
David Goldstein (Columbia University Medical Center , USA)
"Epilepsy Precision Medicine"
8:45 pm - 8:55 pm
Discussion
8:55 pm - 9:15 pm
General Discussion
9:15 pm - 9:30 pm
Closing Remarks
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure