Farzana Sayani, MD, Assistant Professor of Medicine at the Hospital of the University of Pennsylvania explains the pathophysiology of sickle cell disease. Sickle cell disease is an inherited blood disorder in which the red blood cells are abnormally sickle... John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the pathophysiology, symptoms, and treatment options for Farber disease. Farber disease is a rare lysosomal disorder due to mutations of the ASAH1 gene.... Barbara Burton, MD of Lurie Children’s Hospital of Chicago discusses the latest results from the Morquio A Registry Study (MARS). The registry data shows that persons with Morquio syndrome type A who are taking enzyme replacement therapy (ERT) experience... Dwight Koeberl, MD, PhD, of Duke University School of Medicine provides an update on the phase 1 study of gene therapy to treat late-onset Pompe disease. As Dr. Koeberl explains in this video, the preliminary results in the low-dose cohort show the gene therapy... Maria Picone is the mother of a child with Prader-Willi syndrome as well as founder/CEO of TREND Community – a company that collects anecdotal information from patients and caregivers so that the information can be quantified and assessed more efficiently. The... Dianne Linnehan, Director of Operations of the Phelan-McDermid Syndrome Foundation is also the parent of a person with Phelan-McDermid syndrome, and as she explains in this interview, her daughter provides her with immeasurable strength and joy, despite the... Page 1 of 1912345...10...»Last » 