Precision Health Research Seminar Series: Lessons from cystic fibrosisWednesday, September 22, 2021 — 12:00pm to 1:00pm
We are pleased to welcome Garry Cutting, professor of pediatrics and medicine in the McKusick-Nathans Institute of Genetic Medicine of the Johns Hopkins University School of Medicine, for a seminar entitled: "Medical genetics and the functional interpretation of DNA variants—lessons from cystic fibrosis". This event is co-sponsored by the Department of Medical Genetics as the Peter Bowen Lectureship.
This seminar will be of particular interest to clinicians and researchers who work with cystic fibrosis patients and potential treatments.
Objectives will include:
- understanding recommendations for the application of functional data to variant interpretation.
- recognizing the strengths and weaknesses of assays used to evaluate variant effects.
- appreciating the role of validity in assay design.
Date: September 22
Time: noon–1 p.m.