by Peter Ciszewski | Jan 8, 2021
Elizabeth Thompson, PhD at Horizon Pharmaceuticals provides an overview of thyroid eye disease (TED), a rare autoimmune disease causing permanent facial disfigurement severely affecting patients’ quality of life and daily function. The disease often...
by Peter Ciszewski | Jan 8, 2021
Robert Hopkin, MD, Associate Professor of Clinical Pediatrics at Cincinnati Children’s Hospital Medical Center, gives an overview of Fabry disease. As Dr. Hopkin explains, Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular...
by Peter Ciszewski | Jan 7, 2021
Professor Ulla Feldt-Rasmussen, MD, Department of Medical Endocrinology and Metabolism, Rigshospitalet Copenhagen University Hospital, gives an overview of hypothalamic obesity (HO). HO is a rare endocrine disorder characterized by severe and debilitating...
by Peter Ciszewski | Jan 7, 2021
Michael Hayden, PhD, Chief Executive Officer of Prilenia Therapeutics, talks about the PROOF-HD trial currently underway to treat Huntington disease. Huntington disease is an inherited, neurodegenerative disorder that usually begins to be symptomatic starting...
by Peter Ciszewski | Jan 5, 2021
Cara Gilmore, a patient with adult onset Niemann-Pick disease type C (NPC), discusses her diagnostic journey. NPC is characterized by an inability of the body to transport cholesterol and other lipids inside cells. This leads to the abnormal accumulation of...
