by Peter Ciszewski | Sep 1, 2020
Kealey-Shay Spolijarevic has progressive familial intrahepatic cholestasis (PFIC), a rare hereditary disease in which an individual is unable to properly remove bile acids from their liver. She describes an overall of her diagnostic journey. PFIC, according to...
by Peter Ciszewski | Sep 1, 2020
Ozlem Goker-Alpan, MD, of the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), provides an overview of the special considerations for management of SARS-CoV-2 infections in patients with lysosomal storage disorders (LSDs). This presentation was...
by Peter Ciszewski | Sep 1, 2020
Howard Rutman, MD, Vice President of Medical Affairs at Daiichi Sankyo, discusses the typical diagnostic journey for patients with tenosynovial giant cell tumors (TGCT). TGCT are a group of rare, benign tumors that involve the synovium, bursae and tendon...
by Peter Ciszewski | Aug 31, 2020
Kathleen Hawker, MD, Group Medical Director at Genentech, discusses the recent FDA approval of satralizumab, the first subcutaneous treatment for adults with AQP4 antibody positive neuromyelitis optica spectrum disease (NMOSD). NMOSD is a rare autoimmune...
by Peter Ciszewski | Aug 31, 2020
Tanya Collin-Histed of the International Gaucher Alliance discusses the important roles that patient groups can play in helping patients with lysosomal storage diseases (such as Gaucher disease) manage their condition during the COVID-19 pandemic. This...
