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CHOC Rare Disease Grand Rounds: Pyridoxine Dependent Epilepsy (PDE) : Overview, New treatments, and the potential for Newborn Screening

Speaker: Curtis R. Coughlin II, PhD, MS, MBE

Curtis Coughlin II is an Associate Professor in the Department of Pediatrics and the Center for Bioethics and Humanities. His research focuses on inborn errors of metabolism that result in neurologic dysfunction such as pyridoxine-dependent epilepsy (PDE-ALDH7A1) and glutaric aciduria type I (GA I). His laboratory utilizes model organisms to characterize the role of metabolites in disease pathology. Dr. Coughlin is a clinical ethicist at the Children’s Hospital Colorado. He is an ELSI genomics researcher that focuses on equitable access to genetic information and supporting individual decision-making.

Education:
PhD in Clinical Sciences
University of Colorado

MBE (Bioethics)
University of Pennsylvania

MS in Genetic Counseling
Arcadia University

BS in Biology
Geneva College

CHOC Grand Rounds is part of the CHOC UCI Rare Disease Day.
Attendees are being asked to RSVP to qualify for CME credit. You will receive an email confirmation and the option to add the date to your calendar.

To register for The 2nd Annual CHOC and UCI
Rare Disease Symposium & Family Conference scheduled for Friday, March 10, 2023, please copy and paste this link: https://web.cvent.com/event/45027377-d6c8-490b-867a-370877523338/summary

Mar 8, 2023 08:00 AM in Pacific Time (US and Canada)