2:00 pm - 5:00 pm
Arrival and Check-in
3:30 pm - 3:45 pm
Introductory Comments by GRC Site Staff / Welcome from the GRS Chair
3:45 pm - 4:30 pm
Keynote Session: Integrating Human Genetics with Functional Genomics and Molecular Phenotypes
Anand Narayanan (Yale University School of Medicine, USA)
3:45 pm - 4:15 pm
Gosia Trynka (Wellcome Sanger Institute, United Kingdom) "Fine Mapping Cellular Mechanisms from Immune Disease GWAS"
4:15 pm - 4:30 pm
4:30 pm - 6:00 pm
6:00 pm - 7:00 pm
7:30 pm - 9:30 pm
Resolving the Functional Impact of Genetic Variants that Drive Human Disease
Henrike Heyne (University of Helsinki, Finland) and Ninad Oak (St. Jude Children's Research Hospital, USA)
7:30 pm - 7:45 pm
Ryan Collins (Talkowski Laboratory, Center for Genomic Medicine, Massachusetts General Hospital, USA) "gnomAD-SV: An Open Resource of Structural Variation for Medical and Population Genetics"
7:45 pm - 7:50 pm
7:50 pm - 8:05 pm
Cigdem Sevim Bayrak (Icahn School of Medicine at Mount Sinai, USA) "Identification of Protein Features Associated with Gain-of-Function and Loss-of-Function Mutations"
8:05 pm - 8:10 pm
8:10 pm - 8:25 pm
Xiaoyan Jia (University of Michigan, USA) "Comprehensive Functional Classification of Lynch Syndrome Missense Variants"
8:25 pm - 8:30 pm
8:30 pm - 8:45 pm
Kamal Khan (Center for Human Disease Modeling, Duke University, USA) "Mutations in FAM50A Cause Armfield XLID Syndrome: A Spliceosomopathy Impacting a Global Repertoire of Transcripts Involved in Neurodevelopment"
8:45 pm - 8:50 pm
8:50 pm - 9:05 pm
Rebecca Meyer-Schuman (University of Michigan, USA) "Predictive Modeling Implicates Threonyl-tRNA Synthetase (TARS) in Axonal Peripheral Neuropathy"
9:05 pm - 9:10 pm
9:10 pm - 9:25 pm
Chao Wang (The Scripps Research Institute, USA) "Using Gaussian Process-Based Machine Learning to Quantitate the Genomic-Phenomic Transformation by Histone Deacetylase (HDAC)"
9:25 pm - 9:30 pm
7:30 am - 8:30 am
9:00 am - 11:00 am
Revealing Novel Disease Mechanisms Through Innovative Analysis of Big Data
Irina Armean (European Bioinformatics Institute (EMBL-EBI), United Kingdom) and Zachary Zappala (Vertex Pharmaceuticals, USA)
9:00 am - 9:15 am
Elaine Lim (Harvard Medical School, USA) "Identifying Cell Types and Driver Genes Through Deconvolution of Bulk RNA Sequence Data from Cerebral Organoids"
9:15 am - 9:20 am
9:20 am - 9:35 am
Kiana Mohajeri (Harvard University / Massachusetts General Hospital, USA) "Mechanistic Dissection of Chromatin Topology Disruption as an Indirect, Strong Effect Driver of Neurodevelopmental Disorders"
9:35 am - 9:40 am
9:40 am - 9:55 am
Eddie Cano-Gamez (Wellcome Sanger Institute, United Kingdom) "Single-Cell Transcriptomics Identifies Effector Capacity as a Critical Determinant of Human CD4+ T Cell Response to Cytokines"
9:55 am - 10:00 am
10:00 am - 10:15 am
Tamiel Turley (Mayo Clinic Graduate School of Biomedical Sciences, USA) "Genome-Wide Association Study Identifies Susceptibility Loci for Spontaneous Coronary Artery Dissection"
10:15 am - 10:20 am
10:20 am - 10:35 am
Sali Farhan (Harvard Medical School, Massachusetts General Hospital / Broad Institute of MIT and Harvard, USA) "Exome Sequencing in Amyotrophic Lateral Sclerosis Implicates DNAJC7 as a Novel Genetic Risk Factor"
10:35 am - 10:40 am
10:40 am - 10:55 am
Ekaterina Khramtsova (University of Chicago, USA) "An Analysis of Sex-Specific Genetic Effects Across Neuropsychiatric and Behavioral Traits Reveals Shared Genetic Sex-Differences"
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: Strategies for Success in the Rapidly Evolving Field of Human Genetics
During the lunch preceding the panel discussion, attendees will have the opportunity to dine with mentors and discuss a variety of relevant topics (attendees will be assigned a mentor in advance of the meeting according to their preferences). Mentors will then serve as panelists in this session, where they will share advice and field questions from all attendees. Discussion topics will include: How to build a research program and start a lab; How to craft a compelling narrative about your research; Scientific publishing in the 21st Century; Human genetics in the industrial laboratory; and considerations for clinical genomics.
Alicia Martin (Massachusetts General Hospital, USA)
1:30 pm - 2:30 pm
Career Development in Human Genetics and Genomics
Anne O'Donnell-Luria (Boston Children's Hospital / Broad Institute of MIT and Harvard, USA)
Gosia Trynka (Wellcome Sanger Institute, United Kingdom)
Julian Homburger (Color Genomics, USA)
Christopher Cassa (Harvard Medical School, USA)
2:30 pm - 3:00 pm
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