Saturday
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: The Application of Human Genetics in Disease Models
Discussion Leader: Ryan Collins (Talkowski Laboratory, Massachusetts General Hospital Center for Genomic Medicine, USA)
3:45 pm - 4:15 pm
Ron Do (Icahn School of Medicine at Mount Sinai, USA)
"The Hidden Nature of Recessive Selection: Detection from Human Population Data and Implications for Disease Models in Distant Organisms"
4:15 pm - 4:30 pm
Discussion
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Strategic Approaches in Assessing Genomic Variation
Discussion Leaders: Fah Sathirapongsasuti (23andMe, USA) and Daniel Jordan (Icahn School of Medicine at Mount Sinai, USA)
7:30 pm - 7:45 pm
Dawei Li (University of Vermont, USA)
"Identify Novel Oncovirus in Human Cancers Using Whole-Genome Sequencing"
7:45 pm - 7:50 pm
Discussion
7:50 pm - 8:05 pm
Alicia Martin (Massachusetts General Hospital, USA)
"Demographic History Impacts Polygenic Risk Across Diverse Populations"
8:05 pm - 8:10 pm
Discussion
8:10 pm - 8:25 pm
Karl Heilbron (23andMe, USA)
"Traits Associated with Parkinson's Disease in a Large and Deeply Phenotyped Cohort"
8:25 pm - 8:30 pm
Discussion
8:30 pm - 8:45 pm
Lesley Chapman (National Institute of Standards and Technology, USA)
"Machine Learning Strategies to Identify High Confidence Structural Variants in Human Genome Reference Materials"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:05 pm
Alicia Byrne (University of South Australia, Australia)
"The Genomic Autopsy: Using Whole Exome and Whole Genome Sequencing to Solve Complex Fetal and Neonatal Presentations"
9:05 pm - 9:10 pm
Discussion
9:10 pm - 9:25 pm
Jason Torres (Wellcome Trust Centre for Human Genetics, United Kingdom)
"Physical Interaction in Human Beta-Cells Between Islet eQTL Sites and Target Gene Promoters at Loci Associated with Type 2 Diabetes Risk and Glycemic Traits"
9:25 pm - 9:30 pm
Discussion
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Unraveling the Transcriptome, Proteome, and Metabolome Through Functional Genomics and Model Organisms
Discussion Leader: Xenia Latypova (Duke University, USA)
9:00 am - 9:15 am
Sarah Kim-Hellmuth (New York Genome Center, USA)
"Genetic Regulatory Effects Modified by Immune Activation Contribute to Autoimmune Disease Associations"
9:15 am - 9:20 am
Discussion
9:20 am - 9:35 am
Anand Narayanan (Yale University School of Medicine, USA)
"Characterization of Novel Functions of DYRK1B in Myogenic Specification, Differentiation and Muscular Dystrophies"
9:35 am - 9:40 am
Discussion
9:40 am - 9:55 am
Ninad Oak (Baylor College of Medicine, USA)
"Annotative Database of miRNA Elements, ADmiRE, Identifies the Landscape of Human miRNA Variation from the Genome Aggregation Dataset, gnomAD"
9:55 am - 10:00 am
Discussion
10:00 am - 10:15 am
Soren Thomsen (University of Oxford, United Kingdom)
"High-Throughput Screening Identifies the Type 2 Diabetes Risk Gene ZMIZ1 as a Key Regulator of Pancreatic Beta-Cell Function"
10:15 am - 10:20 am
Discussion
10:20 am - 10:35 am
Muthukumar Ramanathan (Stanford University, USA)
"Facile and Fast Tool to Study Impact of Sequence Variation on RNA-Protein Interactions"
10:35 am - 10:40 am
Discussion
10:40 am - 10:55 am
Kamal Khan (Center for Human Disease Modeling, Duke University, USA)
"Mutations in the Condensin II Component NCAPG2 Cause Autosomal Recessive Neurodevelopmental Syndrome"
10:55 am - 11:00 am
Discussion
11:00 am - 12:30 pm
Poster Session
Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pm - 1:30 pm
Lunch
1:30 pm - 2:30 pm
Mentorship Component: Philosophy of Science: From Scientific Methods to Communication and Mentoring the Next Generation of Scientists
Discussion Leaders: Genevieve Andersen (University of Colorado Anschutz Medical Campus, USA) and Sahar Mozaffari (University of Chicago, USA)
1:30 pm - 1:55 pm
Brooke Laflamme (Springer Nature, USA)
"Editorial Decision Making in High-Impact Science"
1:55 pm - 2:00 pm
Discussion
2:00 pm - 2:30 pm
Panel Discussion
Career Planning in Science
Ron Do (Icahn School of Medicine at Mount Sinai, USA)
Brooke Laflamme (Springer Nature, USA)
Anne O'Donnell Luria (Boston Children's Hospital, USA)
Fah Sathirapongsasuti (23andMe, USA)
2:30 pm - 3:00 pm
Evaluation Period
Fill in GRS Evaluation Forms
3:00 pm
Seminar Concludes
