by Peter Ciszewski | Feb 7, 2023
Mark Kiel, MD, PhD, chief science officer at Genomenon and Catherine Nester, BSN, VP of Physician and Patient Strategies at Inozyme Pharma, discuss the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency. ENPP1 is an enzyme...
by Peter Ciszewski | Jan 13, 2023
Dr. Harrison Farber, a pulmonologist and director of the Pulmonary Embolism Response Team at Tufts Medical Center discusses a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to function. Pulmonary...
by Peter Ciszewski | Jan 13, 2023
P.J. Brooks, PhD, Acting Director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (NCATS), describes the Platform Vector Gene Therapy (PaVe-GT) pilot project. As Dr. Brooks explains, adeno-associated virus...
by Peter Ciszewski | Jan 6, 2023
Jeanne Whiting, Co-Founder and Executive Director of the Desmoid Tumor Research Foundation, gives an overview of the foundation and how their work has benefited patients with these rare tumors. Desmoid tumors can grow anywhere on the body into surrounding...
by Peter Ciszewski | Jan 4, 2023
The Pathophysiology of Spinal Muscular Atrophy (SMA) Diana Castro, MD, founder of the Neurology Rare Disease Center in Dallas, Texas discusses the pathophysiology of spinal muscular atrophy (SMA). SMA is a rare inherited neuromuscular disorder caused...
