by Peter Ciszewski | Apr 6, 2021
Jennifer Ibrahim, MD, Head of North America Medical Affairs, Rare Disease at Sanofi Genzyme, discusses the geneticist’s role in diagnosing and treating rare genetic diseases. As Dr. Ibrahim explains, often rare diseases present with a number of symptoms, many...
by Peter Ciszewski | Apr 6, 2021
Anne Wood Beaven, MD, Associate Professor of Medicine and Vice Chief of Operations, Division of Hematology at University of North Carolina School of Medicine, gives an overview of cutaneous T-cell lymphoma (CTCL). As Dr. Beaven explains, CTCL belongs to the...
by Peter Ciszewski | Apr 6, 2021
Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and Board Member of the FSHD Society, discusses her diagnostic journey. FSHD is a rare, progressive musculoskeletal disease in which persons initially lose muscle strength in the face, shoulders,...
by Peter Ciszewski | Apr 2, 2021
Chris Peetz, President and CEO of Mirum Pharmaceuticals, discusses the INDIGO phase 2 clinical trial testing maralixibat to treat progressive familial intrahepatic cholestasis (PFIC). PFIC is a rare genetic disorder that causes progressive, life-threatening...
by Peter Ciszewski | Apr 2, 2021
Malika Abrams, a young woman with sickle cell anemia and avascular necrosis (AVN), gives advice to physicians with sickle cell anemia patients. Sickle cell anemia is an inherited blood disorder. Early symptoms usually occur in childhood and include swelling,...
