by CheckRare Staff | Mar 29, 2022
Caroline Hastings, MD, Hematologist-Oncologist and Neuro-Oncologist from the UCSF Benioff Children’s Hospital, discusses some the ‘tell-tale’ signs of children with Niemann-Pick disease Type C (NPC). NPC is a disabling neurogenetic disorder that has been...
by James Radke, PhD | Mar 28, 2022
Dawn Laney, MS, CGC, CCRC, Co-Founder and Chief Genetic Officer of ThinkGenetic, discusses how the company is helping physicians diagnose rare diseases more efficiently. As Ms. Laney explains, ThinkGenetic utilizes firsthand knowledge as genetic counselors as...
by James Radke, PhD | Mar 25, 2022
Jonathan Wall, PhD, Professor and Director of the University of Tennessee Graduate School of Medicine’s Amyloidosis and Cancer Theranostics Program and Co-founder & Interim Chief Scientific Officer at Attralus, gives an overview of immunoglobulin light...
by Peter Ciszewski | Mar 25, 2022
Tomek Szczudlo, VP, Global Medical Affairs, Franchise Head, Solid Tumors at Daiichi Sankyo, discusses the tenosynovial giant cell tumors (TGCT) Observational Platform Project (TOPP) registry, data from which was presented at the Connective Tissue Oncology...
by James Radke, PhD | Mar 24, 2022
Giacomo Chiesi, Head of Chiesi Global Rare Diseases, gives an overview of alpha mannosidosis. As Mr. Chiesi explains, alpha mannosidosis is a rare lysosomal storage disorder caused by a deficiency in the enzyme alpha-D-mannosidase. This enzyme is essential for...
