Identifying Research Priorities to Accelerate Genetic Diagnosis
Event Details
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are commonly used methods for determining causal variants underlying Mendelian disease. Although WES and WGS have proven to be transformational approaches, much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) is interested in obtaining feedback from the scientific community to better understand the major challenges, gaps and opportunities for developing solutions to this complex issue.
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Hybrid: Zoom Webinar (Requires Registration) and In-Person
Agenda
Day 1 - Tuesday, April 16th, 2024
- 8:30 AM – Arrival and registration
- 9:00 AM – Welcome and Overview of Workshop Goals
Lisa Chadwick, NHGRI - 9:10 AM – Session 1: Tapping into Emerging Technologies
Moderator: Heather Colley, NHGRI - 9:10 AM – Setting the Stage
Ali Crawford, Illumina - 9:25 AM – Panel Discussion
Ali Crawford, Illumina
Adam Kennedy, Metabolon, Inc.
Tomi Pastinen, Children’s Mercy Kansas City
Bekim Sadikovic, London Health Sciences Centre
Ashleigh Schaffer, Case Western Reserve University
Andrew Stergachis, University of Washington - 10:25 AM – Break
- 10:45 AM – Session 2: Data Sharing is Caring
Moderator: Robb Rowley, NHGRI - 10:45 AM – Setting the Stage
Heidi Rehm, Broad Institute/MGH - 11:00 AM – Panel Discussion
Paul Kruszka, GeneDx
Heidi Rehm, Broad Institute/MGH
Tania Simoncelli, Chan Zuckerberg Initiative
Deanne Taylor, CHOP/University of Pennsylvania - 12:00 PM - Lunch
- 1:00 PM – Session 3: Genetics, it’s Complicated
Moderator: Jennifer Troyer, NHGRI - 1:00 PM – Setting the Stage
David Adams, NHGRI - 1:15 PM – Panel Discussion
David Adams, NHGRI
Garry Cutting, Johns Hopkins University
Glennis Logsdon, University of Pennsylvania
Sarah Morton, Boston Children’s Hospital
Melissa Wilson, Arizona State University - 2:15 PM - Break
- 2:35 PM – Session 4: Effectively Linking Variants to Function
Moderator: Erin Ramos, NHGRI - 2:35 PM – Setting the Stage
Doug Fowler, University of Washington - 2:50 PM – Panel Discussion
Naiara Akizu, CHOP/University of Pennsylvania
Doug Fowler, University of Washington
Steve Murray, The Jackson Laboratory
Saba Parvez, Northwestern University
Steve Reilley, Yale School of Medicine - 3:50 PM - Break
- 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses
Moderator: Chris Wellington, NHGRI - 4:10 PM – Setting the Stage
Nara Lygia De Macena Sobreira, Johns Hopkins University - 4:25 PM - Panel Discussion
Egor Dolzhenko, Pacific Biosciences
Erik Garrison, The University of Tennessee Health Science Center
Konrad Karczewski, Broad Institute/MGH
Anshul Kundaje, Stanford University
Nara Lygia De Macena Sobreira, Johns Hopkins University - 5:25 PM – Wrap up from Day 1
Day 2 - Wednesday, April 17, 2024
- 9:00 AM – Recap of Day 1: Major Takeaways
Heather Colley, NHGRI
Erin Ramos, NHGRI
Robb Rowley, NHGRI
Jennifer Troyer, NHGRI
Chris Wellington, NHGRI - 9:30 AM - Session 6: What are we missing?
Moderator: Carolyn Hutter, NHGRI - 9:30 AM – Open Discussion
All attendees - 10:30 AM - Break
- 10:50 AM – Session 7: Recommendations
Moderator: Lisa Chadwick, NHGRI - 10:50 AM – Open Discussion
All attendees - 12:00 PM - Meeting Close
Contacts
Lisa H. Chadwick, Ph.D.
- Program Director
- Division of Genome Sciences
Heather A. Colley, M.S.
- Program Director
- Division of Genomic Medicine
Sara Currin, B.S.
- Scientific Program Analyst
- Division of Genome Sciences
Chris Wellington, B.S.
- Program Director, Computational Genomics and Data Science
- Office of Genomic Data Science
Last updated: April 4, 2024