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
7:40 pm - 7:50 pm
Opening Remarks
7:50 pm - 8:20 pm
"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
"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
"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
9:00 am - 9:20 am
Introduction by Discussion Leader
9:20 am - 9:50 am
"The End of Malignant Hyperthermia"
9:50 am - 10:00 am
Discussion
10:00 am - 10:10 am
"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
"Progress Toward Scalability and Implementation of Genomic Medicine"
11:20 am - 11:30 am
Discussion
11:30 am - 11:40 am
"Comprehensive Functional Classification of Lynch Syndrome Missense Variants"
11:40 am - 11:50 am
Discussion
11:50 am - 12:00 pm
"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
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
7:30 pm - 7:40 pm
Introduction by Discussion Leader
7:40 pm - 8:10 pm
"Impact of Genetic Variation on 3D Genome Interactions"
8:10 pm - 8:15 pm
Discussion
8:15 pm - 8:25 pm
"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
"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
9:00 am - 9:15 am
Introduction by Discussion Leader
9:15 am - 9:45 am
"Genomics Approaches to Mitochondrial Dysfunction and Disease"
9:45 am - 9:50 am
Discussion
9:50 am - 10:00 am
"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
"Men, Microbes and Mini-Guts"
11:10 am - 11:20 am
Discussion
11:20 am - 11:30 am
"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
"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
7:30 pm - 7:45 pm
Introduction by Discussion Leader
7:45 pm - 8:10 pm
"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
"Advancing Precision Medicine for All of Us"
8:45 pm - 8:55 pm
Discussion
8:55 pm - 9:05 pm
"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
9:00 am - 9:15 am
Introduction by Discussion Leader
9:15 am - 9:45 am
"Modeling Pediatric Genetic Disease in the Developing Zebrafish"
9:45 am - 9:50 am
Discussion
9:50 am - 10:00 am
"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
"Leveraging Polygenic Signal to Gain Biological Insight from GWAS"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"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
"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
7:30 pm - 7:50 pm
"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
"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
"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
"A Clinical Imperative: Genomics, Population Health and Precision Health at Geisinger"
9:00 pm - 9:05 pm
Discussion
9:05 pm - 9:25 pm
"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
9:00 am - 9:15 am
Introduction by Discussion Leader
9:15 am - 9:45 am
"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
"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
"Genetic Basis of Pediatric Brain Disease"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"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
"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
5:30 pm - 6:00 pm
"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
"Genetic Structure Effects of Ancestry-Based and Trait-Based Assortative Mating"
6:20 pm - 6:25 pm
Discussion
6:25 pm - 6:55 pm
"Complexity in Mendelian Disease"
6:55 pm - 7:00 pm
Discussion
7:00 pm - 7:10 pm
"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