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 Staff / Welcome and Introduction from the Chairs
7:40 pm - 9:30 pm
Learning from Large Cohorts
Discussion Leader: Jennifer Posey (Baylor College of Medicine, United States)
7:40 pm - 8:10 pm
David Bick (Genomics England, United Kingdom)
"Genomic Newborn Screening in the UK"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:45 pm
Anjene Musick (National Institutes of Health, United States)
"Powering Genomic Research through All of Us"
8:45 pm - 8:55 pm
Discussion
8:55 pm - 9:20 pm
Anastasia Wise (National Institutes of Health, United States)
"All of Us Genetic Return of Results"
9:20 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Mendelian Genetics and Clinical Implementation
Discussion Leader: Yufeng Shen (Columbia University, United States)
9:00 am - 9:30 am
Jennifer Posey (Baylor College of Medicine, United States)
"Investigating the Complex Relationship Between Genotypes and Disease Phenotypes"
9:30 am - 9:45 am
Discussion
9:45 am - 10:15 am
Nara Lygia Sobreira (Johns Hopkins University, United States)
"Use of Optical Genome Mapping and Long-Read Sequencing to Solve Unsolved Rare Phenotypes."
10:15 am - 10:30 am
Discussion
10:30 am - 11:00 am
Group Photo / Coffee Break
11:00 am - 11:30 am
Shinya Yamamoto (Baylor College of Medicine, United States)
"Functional Studies of Disease Associated Genes and Rare Variants Using the State-of-the-Art Genetic Technology in Drosophila melanogaster "
11:30 am - 11:45 am
Discussion
11:45 am - 12:15 pm
Sharon Plon (Baylor College of Medicine, United States)
"Variants of Uncertain Significance: From Reporting to Individual Patients to Evaluation by ClinGen"
12:15 pm - 12:30 pm
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 diversity and inclusion in the scientific workplace by providing a safe environment for informal and meaningful conversations amongst colleagues of all career stages. The program supports the professional growth of all members of our communities, including ethnicity, race and/or gender identity by providing an open forum for discussion and mentoring.
Organizer: Susan Slaugenhaupt (Massachusetts General Hospital, United States)
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Use of Human Genetics in Drug Development
Discussion Leader: John Stamatoyannopoulos (Altius Institute for Biomedical Sciences, United States)
7:30 pm - 8:15 pm
Emmanouil Dermitzakis (GSK, United States)
"Drug Discovery in the Era of Genomics"
8:15 pm - 8:30 pm
Discussion
Tuesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Novel Statistical Methods Using Large Data Sets
Discussion Leader: Eimear Kenny (Icahn School of Medicine at Mount Sinai, United States)
9:00 am - 9:25 am
Manuel Rivas (Stanford University, United States)
"Large-Scale Inference Across Population Cohorts Identifies Novel Therapeutic Target Opportunities"
9:25 am - 9:35 am
Discussion
9:35 am - 10:00 am
Jonathan Marchini (Regeneron Genetics Center, United States)
"Using Human Genetics to Develop Therapies"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:05 am
Benjamin Neale (Massachusetts General Hospital/Broad Institute , United States)
"Genetic Analyses at Scale Using Biobanks"
11:05 am - 11:15 am
Discussion
11:15 am - 11:40 am
Eleazar Eskin (UCLA, United States)
"UCLA SwabSeq COVID-19 NGS Diagnostic: The Bench to Vending Machine Adventure"
11:40 am - 11:50 am
Discussion
11:50 am - 12:15 pm
Po-Ru Loh (Harvard Medical School / Brigham and Women's Hospital, United States)
"Haplotype-Informed Discovery of Hidden Genetic Variants Influencing Human Traits"
12:15 pm - 12:30 pm
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
Treatments for Rare Genetic Diseases
Discussion Leader: Sharon Plon (Baylor College of Medicine, United States)
7:30 pm - 8:15 pm
Yael Weiss (Mahzi Therapeutics, United States)
"Treating Rare Genetic Diseases: Challenges and Opportunities"
8:15 pm - 8:30 pm
Discussion
8:30 pm - 9:15 pm
Julie Douville (n-Lorem Foundation, United States)
"n-Lorem: A Non-Profit Model for Translating Advanced Therapeutics to Nano-Rare Patients."
9:15 pm - 9:30 pm
Discussion
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Population Genetics Using Large Data Sets
Discussion Leader: Shamil Sunyaev (Harvard Medical School, United States)
9:00 am - 9:25 am
Michael Talkowski (MGH Broad Institute, United States)
"The Diverse Genomic Architecture of the Developmental Continuum from Fetal Anomalies to Childhood Onset Disorders"
9:25 am - 9:35 am
Discussion
9:35 am - 10:00 am
Jeremy Berg (University of Chicago, United States)
"Testing for differences in polygenic scores in the presence of confounding"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:05 am
Kelley Harris (University of Washington, United States)
"The Evolution and Heritability of Mammalian Mutation Rates"
11:05 am - 11:15 am
Discussion
11:15 am - 11:40 am
John Novembre (University of Chicago, United States)
"Variant-Centric Perspectives on Human Population Structure and Implications for Study Design"
11:40 am - 11:50 am
Discussion
11:50 am - 12:15 pm
Mashaal Sohail (National Autonomous University of Mexico, Mexico)
"Nationwide Genomic Biobank in Mexico Unravels Demographic History and Complex Trait Architecture from 6,057 Individuals"
12:15 pm - 12:30 pm
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
Genetics of Structural Anomalies
Discussion Leader: Michael Talkowski (MGH Broad Institute, United States)
7:30 pm - 8:15 pm
Sarah Morton (Boston Children's Hospital, United States)
"Functional Assessment of Noncoding Variants in Congenital Heart Disease"
8:15 pm - 8:30 pm
Discussion
8:30 pm - 9:15 pm
Yufeng Shen (Columbia University, United States)
"Two Sides of the Same Coin: Analyses Across Developmental Disorders"
9:15 pm - 9:30 pm
Discussion
Thursday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Business Meeting
Nominations for the Next Vice Chair(s); Complete the GRC Evaluation Forms; Discuss Future Dates and Venue; Election of the Next Vice Chair(s)
9:00 am - 12:30 pm
Genome Function and Regulation
Discussion Leader: Manuel Rivas (Stanford University, United States)
9:00 am - 9:25 am
Barak Cohen (Washington University in St Louis School of Medicine, United States)
"Interpretation of cis -Regulatory Information in the Genome"
9:25 am - 9:35 am
Discussion
9:35 am - 10:00 am
Peter Kharchenko (Altos Labs, United States)
"Detecting CNVs in cancer and normal tissues from RNA data"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:05 am
Len Pennacchio (Lawrence Berkeley National Laboratory, United States)
"In Vivo Studies of Human Genome Function"
11:05 am - 11:15 am
Discussion
11:15 am - 11:40 am
John Stamatoyannopoulos (Altius Institute for Biomedical Sciences, United States)
"To Be Determined"
11:40 am - 11:50 am
Discussion
11:50 am - 12:15 pm
Nicole Soranzo (Human Technopole, Italy)
"Polygenic Contributions to Human Diseases and Their Mechanisms"
12:15 pm - 12:30 pm
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
Power of Diverse Population Cohorts
Discussion Leader: Benjamin Neale (Massachusetts General Hospital/Broad Institute , United States)
7:30 pm - 8:15 pm
Nicholas Katsanis (Galatea Bio, United States)
"Genomics of Drug Discovery"
8:15 pm - 8:30 pm
Discussion
8:30 pm - 9:15 pm
Eimear Kenny (Icahn School of Medicine at Mount Sinai, United States)
"Population genetics in an era of genomic health."
9:15 pm - 9:30 pm
Discussion
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure