by Peter Ciszewski | Mar 19, 2021
Mayah, a college student with primary hyperoxaluria type 1 (PH1), goes through a few of her most memorable moments with the disease. PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These...
by Peter Ciszewski | Mar 19, 2021
Malika Abrams, a young woman with sickle cell anemia and avascular necrosis, describes how sickle cell anemia affects her. Sickle cell anemia is an inherited blood disorder. Early symptoms usually occur in childhood and include swelling, fatigue, and jaundice....
by Peter Ciszewski | Mar 18, 2021
Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of Pediatrics and Director of the Lysosomal Storage Disorders Program at UPMC Children’s Hospital of Pittsburgh, gives an overview of the Recommended Uniform Screening Panel (RUSP) and why it often...
by Peter Ciszewski | Mar 17, 2021
Francesca Fumagalli, PhD, Researcher of Cardiovascular Medicine at Istituto di Ricerche Farmacologiche Mario Negri (IRCCS), gives an overview of metachromatic leukodystrophy (MLD). MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA)...
by Peter Ciszewski | Mar 16, 2021
Tracy McGregor, MD, Senior Director of Clinical Research at Alnylam Pharmaceuticals, discusses what she feels physicians should know about primary hyperoxaluria type 1 (PH1). PH1 is a rare genetic disease in which excessive oxalate production leads to painful...
