1:00 pm - 5:00 pm
Arrival and Check-in
3:30 pm - 3:45 pm
Introductory Comments by GRC Staff / Welcome and Introduction from the Chairs
3:45 pm - 4:30 pm
Keynote Session: Using Large Genomic Data Sets to Improve Interpretation of Rare Variants
Jian Zhou (Baylor College of Medicine, United States)
3:45 pm - 4:20 pm
Monkol Lek (Yale University, United States) "Using Large Genomic Data Sets to Improve Interpretation of Rare Variants"
4:20 pm - 4:30 pm
4:30 pm - 6:00 pm
6:00 pm - 7:00 pm
7:30 pm - 9:30 pm
Defining the Landscape of Genomic Variation and Associated Phenotypes
Chelsea Lowther (Massachussetts General Hospital, United States) and Lily Wang (Harvard Medical School, United States)
7:40 pm - 7:55 pm
L. A. Liggett (Boston Children's, Broad Institute, Harvard Medical School, United States) "Heritable Determinants of Somatic Mutations in Human Hematopoiesis"
7:55 pm - 8:00 pm
8:00 pm - 8:15 pm
Ronen Mukamel (Brigham and Women's Hospital and Harvard Medical School, United States) "Repeat Polymorphisms in Non-Coding DNA Underlie Top Genetic Risk Loci for Glaucoma and Colorectal Cancer"
8:15 pm - 8:20 pm
8:20 pm - 8:35 pm
Cal Liao (The Broad Institute of MIT and Harvard, United States) "Quantifying Gene Loss Across 462 Mammalian Species to Capture Human Gene Essentiality"
8:35 pm - 8:40 pm
8:40 pm - 8:55 pm
Francisco Rodriguez-Algarra (Queen Mary University of London, United Kingdom) "Ribosomal DNA Copy Number Influences Hematological Profiles in Humans"
8:55 pm - 9:00 pm
9:00 pm - 9:15 pm
Fahrisa Islam Maisha (Yale School of Medicine, Center of Genomic Medicine, MGH, Broad Institute of MIT and Harvard, United States) "A Bidirectional Mendelian Randomization Study between Type II Diabetes and Morningness- Eveningness Preference"
9:15 pm - 9:20 pm
9:20 pm - 9:35 pm
Hannah Harris (MIT, United States) "Y Chromosome Promoters Retain Transcriptional Activity Despite Shrinking in the Absence of Sexual Recombination"
9:35 pm - 9:40 pm
7:30 am - 8:30 am
9:00 am - 11:00 am
Models and Mechanism in Human Genetic Disease
Jordana Bloom (Whitehead Institute, United States) and Julian Willett (McGill University, United States)
9:00 am - 9:15 am
Jung-Wan Mok (Baylor College of Medicine, United States) "Leveraging
Drosophila melanogaster Genetics to Facilitate Undiagnosed Diseases Research in the CPMM: Three Case Studies on GPKOW, POU4F1, and BMPR2"
9:15 am - 9:20 am
9:20 am - 9:35 am
Jian Zhou (Baylor College of Medicine, United States) "The Role of TCF20/PHF14 Complex in Neurodevelopment and Autism Spectrum Disorders"
9:35 am - 9:40 am
9:40 am - 9:55 am
Linda Nguyen (University of Edinburgh, United Kingdom) "Photoreceptor Death Mechanisms in Retinitis Pigmentosa - Using the
Pde6b Mouse as a Model" atrd2
9:55 am - 10:00 am
10:00 am - 10:15 am
Nathaniel Mullin (University of Iowa, United States) "Cellular Heteroplasmy Distribution in Mitochondrial Retinopathy"
10:15 am - 10:20 am
10:20 am - 10:35 am
Adelaide Tovar (University of Michigan, United States) "Using Massively Parallel Reporter Assays to Discover Context-Specific Regulatory Grammar"
10:35 am - 10:40 am
10:40 am - 10:55 am
Adrianna San Roman (Whitehead Institute for Biomedical Research, United States) "Conserved Genome-Wide Regulatory Functions of the Human Inactive X and Y Chromosomes"
10:55 am - 11:00 am
11:00 am - 12:30 pm
Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pm - 1:30 pm
1:30 pm - 2:30 pm
Mentorship Component: Career Development in Human Genetics and Genomics
Monkol Lek (Yale University, United States)
1:30 pm - 2:30 pm
Career Development in Human Genetics and Genomics
Britt Johnson (Invitae, United States)
Jennifer Posey (Baylor College of Medicine, United States)
Rosy Hosking (Broad Institute, United States)
Beryl Cummings (Third Rock Ventures, United States)
Elizabeth Leslie (Emory University, United States)
2:30 pm - 3:00 pm
Complete the GRS Evaluation Forms; Election of Future Chair(s)