by Peter Ciszewski | Apr 21, 2022
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children’s Hospital of Orange County, gives an overview of mucopolysaccharidosis type I (MPS I), also referred to as Hurler syndrome. As Dr....
by Peter Ciszewski | Apr 19, 2022
Guillaume Canaud, MD, PhD, of the Paris Descartes University, describes the clinical studies that led to the approval of alpelisib to treat persons with PiK3CA-related overgrowth syndrome (PROS). PROS is a group of rare congenital disorders that lead to the...
by Peter Ciszewski | Apr 18, 2022
Lindsay, a patient with CLOVES syndrome, provides an overview of this rare genetic disorder. As Lindsay explains, CLOVES stands for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis/skeletal/spinal anomalies – the hallmark...
by Peter Ciszewski | Apr 14, 2022
Steven Pipe, MD, Professor of Pediatrics and Pathology, and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan, discusses the recent announcement of positive long-term results from the phase 3 HOPE-B...
by Peter Ciszewski | Apr 11, 2022
James Howard Jr., MD, Distinguished Professor of Neuromuscular Disease and Professor of Neurology and Medicine at UNC School of Medicine, gives a detailed overview of myasthenia gravis. As Dr. Howard explains, myasthenia gravis is a chronic autoimmune...
