Navigating Rare Disease Advocacy: The CurePDE Journey

Podcast Overview

In this episode of “Moving Medicine Forward” – The Podcast, Christine Eby, Director of Clinical Project Management & Therapeutic Strategy Lead at CTI, Anna Sowa, Chief Mission Officer at CurePDE, Curtis R. Coughlin II, PhD, MS, MBE, Associate Professor, Department of Pediatrics and Center for Bioethics and Humanities, and Kristy McCay, mom of a two-year-old living with pyridoxine-dependent epilepsy (PDE), join together to discuss the ongoing efforts to raise awareness and provide support for those affected by this rare condition. They share insights on the challenges of PDE diagnosis, the importance of newborn screening, and the role of gene editing in treatment. The conversation also explores CurePDE’s advocacy work, its partnerships