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
Keynote Session: The Human Genome at 18: Lessons Learned and Aspirations for the Future
Discussion Leader: Cisca Wijmenga (University Medical Center Groningen, The Netherlands)
7:40 pm - 7:50 pm
Opening Remarks
7:50 pm - 8:20 pm
Eric Green (National Human Genome Research Institute, NIH, USA)
"The Human Genome Project Was Just the Beginning: Research Opportunities at 'The Forefront of Genomics'"
8:20 pm - 8:25 pm
Discussion
8:25 pm - 8:55 pm
Richard Myers (HudsonAlpha Institute for Biotechnology, USA)
"Expressing Enthusiasm for Decoding How Genomes Are Involved in Human Health and Disease"
8:55 pm - 9:00 pm
Discussion
9:00 pm - 9:25 pm
Michael Talkowski (Massachusetts General Hospital, USA)
"Remarkable Progress and Sobering Realities of Genomic Medicine in 2019"
9:25 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Medical Genomics: The 'Solved' Problem and Other Challenges
Discussion Leader: Erica Davis (Duke University Medical Center, USA)
9:00 am - 9:20 am
Introduction by Discussion Leader
9:20 am - 9:50 am
Leslie Biesecker (National Human Genome Research Institute, NIH, USA)
"The End of Malignant Hyperthermia"
9:50 am - 10:00 am
Discussion
10:00 am - 10:10 am
Selected from Poster Abstracts: Steven Brenner (University of California, Berkeley, USA)
"Evaluating the Potential of Screening Exome Sequencing for Newborn Screening"
10:10 am - 10:20 am
Discussion
10:20 am - 10:50 am
Group Photo / Coffee Break
10:50 am - 11:20 am
Wendy Chung (Columbia University, USA)
"Progress Toward Scalability and Implementation of Genomic Medicine"
11:20 am - 11:30 am
Discussion
11:30 am - 11:40 am
Selected from Poster Abstracts: Xiaoyan Jia (University of Michigan, USA)
"Comprehensive Functional Classification of Lynch Syndrome Missense Variants"
11:40 am - 11:50 am
Discussion
11:50 am - 12:00 pm
Selected from Poster Abstracts: Henrike Heyne (University of Helsinki, Finland)
"Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels"
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
3:00 pm - 4:00 pm
The GRC Power Hour™
The GRC Power Hour™ is designed to address challenges women face in science and issues of diversity and inclusion. The program supports the professional growth of all members of our communities by providing an open forum for discussion and mentoring.
Organizers: Susan Slaugenhaupt (Massachusetts General Hospital, USA) and Nicholas Katsanis (Duke University, USA)
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Continued Lessons from Genome Evolution
Discussion Leader: Elizabeth Cirulli (Helix, USA)
7:30 pm - 7:40 pm
Introduction by Discussion Leader
7:40 pm - 8:10 pm
Emmanouil Dermitzakis (University of Geneva / Health 2030 Genome Center, Switzerland)
"Impact of Genetic Variation on 3D Genome Interactions"
8:10 pm - 8:15 pm
Discussion
8:15 pm - 8:25 pm
Selected from Poster Abstracts: Alicia Martin (Massachusetts General Hospital, USA)
"A Novel Multi-Ancestry Meta-Analysis (MAMA) Method for Improved Genetic Risk Prediction Accuracy in Diverse Populations"
8:25 pm - 8:35 pm
Discussion
8:35 pm - 9:05 pm
Shamil Sunyaev (Harvard Medical School, USA)
"Non-Parametric Polygenic Risk Prediction"
9:05 pm - 9:10 pm
Discussion
9:10 pm - 9:30 pm
General Discussion
Tuesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Genomics Beyond the Nucleus
Discussion Leader: Huntington Willard (Geisinger, USA)
9:00 am - 9:15 am
Introduction by Discussion Leader
9:15 am - 9:45 am
Vamsi Mootha (Harvard Medical School, USA)
"Genomics Approaches to Mitochondrial Dysfunction and Disease"
9:45 am - 9:50 am
Discussion
9:50 am - 10:00 am
Selected from Poster Abstracts: Niki Mourtzi (Center for Human Disease Modeling, Duke University, USA)
"Mutational Load in the Intraflagellar Transport Complex Correlates with Phenotype Severity in Ciliopathies"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:10 am
Cisca Wijmenga (University Medical Center Groningen, The Netherlands)
"Men, Microbes and Mini-Guts"
11:10 am - 11:20 am
Discussion
11:20 am - 11:30 am
Selected from Poster Abstracts: Elaine Lim (Harvard Medical School, USA)
"Identifying Cell Types and Driver Genes Through Deconvolution of Bulk RNA Sequence Data from Cerebral Organoids"
11:30 am - 11:40 am
Discussion
11:40 am - 12:00 pm
Gonçalo Abecasis (Regeneron Pharmaceuticals, USA)
"Lessons from Sequencing 100,000s of Genomes"
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
Big Data, Really Big Data and the Challenges of Population Scale Genomics
Discussion Leader: Jason Torres (Wellcome Centre for Human Genetics, United Kingdom)
7:30 pm - 7:45 pm
Introduction by Discussion Leader
7:45 pm - 8:10 pm
Themistocles Assimes (Stanford University School of Medicine, USA)
"Making the Most Out of the Million Veteran Program: A Mega-Biobank to Study Genetic Influences on Health and Disease"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:45 pm
Stephanie Devaney (National Institutes of Health, USA)
"Advancing Precision Medicine for All of Us"
8:45 pm - 8:55 pm
Discussion
8:55 pm - 9:05 pm
Selected from Poster Abstracts: Andrew Peterson (SRGM, USA)
"Advancing the Power of Precision Medicine in South Asia"
9:05 pm - 9:10 pm
Discussion
9:10 pm - 9:30 pm
General Discussion
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
From Sequence to Function: Questions of Scaling and Relevance
Discussion Leader: Michael Talkowski (Massachusetts General Hospital, USA)
9:00 am - 9:15 am
Introduction by Discussion Leader
9:15 am - 9:45 am
Erica Davis (Duke University Medical Center, USA)
"Modeling Pediatric Genetic Disease in the Developing Zebrafish"
9:45 am - 9:50 am
Discussion
9:50 am - 10:00 am
Selected from Poster Abstracts: Casey Gifford (Gladstone Institutes / University of California, San Francisco, USA)
"Oligogenic Inheritance of a Human Heart Disease Involving a Genetic Modifier"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:10 am
Hilary Finucane (Broad Institute of MIT and Harvard, USA)
"Leveraging Polygenic Signal to Gain Biological Insight from GWAS"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
Selected from Poster Abstracts: Jonah Einson (Columbia University, USA)
"Allele Specific Expression Analysis of Population Scale Transcriptome Data Is Sensitive to Rare Genetic Variation"
11:25 am - 11:35 am
Discussion
11:35 am - 12:05 pm
Vijay Sankaran (Boston Children's Hospital / Harvard Medical School, USA)
"Genetic Insights into Human Blood Production in Health and Disease"
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
Improving Delivery of Genomic Medicine to the Clinic
Discussion Leader: Alicia Byrne (University of South Australia, Australia)
7:30 pm - 7:50 pm
Alicia Zhou (Color, USA)
"Real-World Implementation of Precision Health: Using Genomics to Drive Patient Engagement and Health Outcomes"
7:50 pm - 7:55 pm
Discussion
7:55 pm - 8:15 pm
Daniel Rader (Perelman School of Medicine, University of Pennsylvania, USA)
"A Genome-First Approach to New Human Biology, Underdiagnosed Disease, and Novel Therapeutic Targets"
8:15 pm - 8:20 pm
Discussion
8:20 pm - 8:30 pm
Selected from Poster Abstracts: Elise Valkanas (Harvard Medical School, USA)
"Systematic Evaluation of Prenatal and Pediatric Diagnostic Yields from Whole-Genome Sequencing in 7,291 Individuals"
8:30 pm - 8:40 pm
Discussion
8:40 pm - 9:00 pm
Huntington Willard (Geisinger, USA)
"A Clinical Imperative: Genomics, Population Health and Precision Health at Geisinger"
9:00 pm - 9:05 pm
Discussion
9:05 pm - 9:25 pm
Heidi Rehm (Massachusetts General Hospital / Broad Institute of MIT and Harvard, USA)
"Supporting Genomics in the Practice of Medicine"
9:25 pm - 9:30 pm
Discussion
Thursday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
The Lagging Strand: Genome Therapeutics and Their Implementation
Discussion Leader: Susan Slaugenhaupt (Massachusetts General Hospital, USA)
9:00 am - 9:15 am
Introduction by Discussion Leader
9:15 am - 9:45 am
Sean Burns (Intellia Therapeutics, USA)
"Delivering on the Therapeutic Potential of CRISPR/Cas9 for Treating Genetic Disease"
9:45 am - 9:50 am
Discussion
9:50 am - 10:00 am
Selected from Poster Abstracts: Moriel Singer-Berk (Rare Disease Group, Broad Institute, USA)
"Manual Curation of Homozygous Predicted Loss-of-Function Variants in 125,000 Exomes Reveals 1,752 Human Genes Tolerant to Inactivation"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:10 am
Joseph Gleeson (University of California, San Diego / Howard Hughes Medical Institute, USA)
"Genetic Basis of Pediatric Brain Disease"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
Selected from Poster Abstracts: Elizabeth Cirulli (Helix, USA)
"Genome-Wide Rare Variant Analysis for Thousands of Phenotypes in 55,000 Exomes"
11:25 am - 11:35 am
Discussion
11:35 am - 12:05 pm
Tamar Grossman (Ionis Pharmaceuticals, USA)
"Antisense Oligonucleotide Therapy for Genetic Disorders"
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 - 5:30 pm
Poster Session
5:30 pm - 7:30 pm
The Human Genome at Midlife and Its Impact on Medicine and Society
Discussion Leader: Sekar Kathiresan (Massachusetts General Hospital, USA)
5:30 pm - 6:00 pm
Carlos Bustamante (Stanford University, USA)
"Solving the Innovator's Dilemma in Precision Health: Hope, Hype and Paths Forward"
6:00 pm - 6:10 pm
Discussion
6:10 pm - 6:20 pm
Selected from Poster Abstracts: Yambazi Banda (AncestryDNA, USA)
"Genetic Structure Effects of Ancestry-Based and Trait-Based Assortative Mating"
6:20 pm - 6:25 pm
Discussion
6:25 pm - 6:55 pm
Richard Gibbs (Baylor College of Medicine, USA)
"Complexity in Mendelian Disease"
6:55 pm - 7:00 pm
Discussion
7:00 pm - 7:10 pm
Selected from Poster Abstracts: Erola Castiñeira (MRC Human Genetics Unit, United Kingdom)
"Genome-Wide Study of Hair Colour in UK Biobank Explains Most of the SNP Heritability"
7:10 pm - 7:15 pm
Discussion
7:15 pm - 7:30 pm
Closing Remarks
8:00 pm - 9:00 pm
Dinner
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure