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Human Genetics and Genomics

Gordon Research Conference

Human Genetics: Advances to Support Scalability

July 9 - 14, 2023

Chair Wendy Chung

Vice Chair Shamil Sunyaev

Waterville Valley

56 Packard's Road

Waterville Valley, New Hampshire, United States

Venue and Travel Information

Conference Description

The Human Genetics and Genomics GRC is a premier, international scientific conference focused on advancing the frontiers of science through the presentation of cutting-edge and unpublished research, prioritizing time for discussion after each talk and fostering informal interactions among scientists of all career stages. The conference program includes a diverse range of speakers and discussion leaders from institutions and organizations worldwide, concentrating on the latest developments in the field. The conference is five days long and held in a remote location to increase the sense of camaraderie and create scientific communities, with lasting collaborations and friendships. In addition to premier talks, the conference has designated time for poster sessions from individuals of all career stages, and afternoon free time and communal meals allow for informal networking opportunities with leaders in the field.

There will be a Power Hour associated with the GRC where attendees from all levels are encouraged to participate in discussion of issues ranging from support and growth of women in science to support for all minorities in science to work/life balance and mentorship. The poster sessions will be an important part of the conference and an opportunity for trainees to present their work.

Related Meeting

This GRC will be held in conjunction with the "Human Genetics and Genomics" Gordon Research Seminar (GRS). Those interested in attending both meetings must submit an application for the GRS in addition to an application for the GRC. Refer to the associated GRS program page for more information.

Conference Program

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

Contributors

The Warren Alpert Foundation

Galatea Bio Inc

The Warren Alpert Foundation

Conference Links

Conference History Human Genetics and Genomics (GRS)

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