by Peter Ciszewski | Jul 13, 2022
Guillaume Canaud, MD, PhD, of Necker-Enfants Malades Hospital – AP-HP, the Paris Descartes University, explains why a biopsy is needed to diagnose PIK3CA-related overgrowth syndrome (PROS). PROS is a group of rare congenital disorders that lead to the...
by Peter Ciszewski | Jul 11, 2022
Ruchira Glaser, MD, MS, Senior Vice President, Therapeutic Area Head of Rare Disease, Autoimmune & Cardiovascular at Moderna, discusses the company’s leading mRNA platform. As Dr. Glaser notes, the use of mRNA therapies is not novel; however, Moderna’s...
by Peter Ciszewski | Jul 8, 2022
Olaf Bodamer, MD, PhD, Associate Chief of Genetics and Genomics at Boston Children’s Hospital, discusses the National Organization for Rare Disorders’s (NORD) Rare Disease Centers of Excellence, of which Boston Children’s Genetics and Genomics is...
by Peter Ciszewski | Jul 7, 2022
Lindsay, a young adult with CLOVES syndrome, describes her experience with the disease from diagnosis to treatment. CLOVES stands for the most common symptoms present in this rare condition – congenital lipomatous overgrowth, vascular malformations, epidermal...
by Peter Ciszewski | Jul 6, 2022
Damian M. May, PharmD, MBA, Senior Director Of Health Economics and Outcomes Research at Acadia Pharmaceuticals, discusses data on the patient journey and clinical burden of Rett syndrome in the United States. This data was presented at the 2022 AAN Annual...
