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
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.
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