Advancing Hope: Pioneering Therapy for Rare Diseases: 8am - 10:15am

8:00am Welcome and Introduction 8:15am The Power of Translational Research Presented by: Jerry Vockley, MD, PhD 8:45am Rare Disease Gene Discovery in Plain Populations Presented by: Erik Puffenberger, PhD 9:15am Validating Candidate Variants of Interest: Principles into Practice Presented by: Karlla Brigatti, MS, LCGC 9:30am Propionic Acidemia & Cobalamin-C Variants in the Plain Communities: Natural History, Biochemistry, and Outcome - Therapeutic Methionine Depletion of the Brain - Helpful or Harmful Presented by: Holmes Morton, MD 10am Panel Questions Panel: Jerry Vockley, Holmes Morton, Erik Puffenberger & Karlla Brigatti