MitoAction
Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease
Expert Series: Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening
November 1 @ 12:00 pm – 1:00 pm EDT
Dr. Bedoyan will present the essentials for understanding pyruvate dehydrogenase complex deficiency (PDCD) and detail current clinical trials and therapeutics research for this disorder at UPMC Children’s Hospital of Pittsburgh. He will also describe the elements of newborn screening (NBS) and update the audience of current research and prospects for future PDCD NBS.
About the Speaker
Jirair Bedoyan, MD, PhD, FACMG
Jirair K. Bedoyan, MD, PhD, FACMG is an Associate Professor of Pediatrics at the University of Pittsburgh School of Medicine in the Division of Genetic and Genomic Medicine. He directs the Clinical Biochemical Genetics Fellowship Program and Medical Genetics Clinical Research at UPMC Children's Hospital of Pittsburgh. He is a University of Pittsburgh IRB Committee member and serves on the United Mitochondrial Disease Foundation (UMDF) Scientific and Medical Advisory Board (SMAB). His clinical and research interests relate to inborn errors of metabolism, including disorders of pyruvate metabolism particularly pyruvate dehydrogenase complex deficiency and pyruvate carboxylase deficiency. He sees both pediatric and adult patients.
