Functional Genomics and the Path from Genetic Variation to Clinical Translation

2nd Annual Cross-Disciplinary Symposium on the State of Science, Technology, and Capacity at Washington University in St. Louis

Friday, June 16, 2017, 1:00-5:00 PM
Moore Auditorium, WUSM-North Building
Reception to follow

This event is free. Your registration will help us estimate adequate seating and food. Sponsored by the IDDRC at Washington University Medical School and St. Louis Children’s Hospital. Contact:

Speakers and Topics

Dean David Perlmutter, MD: A Vision for Personalized Medicine at Washington University
F. Sessions Cole, MD: Bottlenecks in Interpretation of Variants of Undiagnosed Disease in Newborns

Session 1: Experimental Validation of Variants

Gary Silverman, MD, PhD: Functional Genomic Assays in C. elegans
Lila Solnica-Krezel, PhD: Functional Genomic Assays in Zebrafish
Barak Cohen, PhD: Cell-Based Functional Genomic Assays
Panel Discussion: Matchmaking Clinicians and Scientists for Designing and Performing Functional Genetic Screens. Co-led by Xiaoxia Cui, PhD, Chris Gurnett, MD, PhD, and Session 1 Speakers

Session 2: Translating Variant Knowledge from Bench to Bedside (and Back Again)

Nate Stitziel, MD, PhD: Harnessing the Human Clinical Phenotype as an Axis of Validation
Philip Payne, PhD: The Role of Informatics in Leveraging Functional Genomic Information for the Development of Novel Therapies
Susan Dutcher, PhD: Perspectives on the Role of Functional Validation in the Gene Discovery Process
Panel Discussion: Gene Variant Knowledge and an Impending Revolution in Patient Care. Co-led by Laura Bierut, MD, Jon Heusel, MD, PhD, Dave Spencer, MD, PhD, Don Conrad, PhD, and Session 2 Speakers

Click the image to download a PDF of the flyer.