by James Radke, PhD | Mar 31, 2022
Terence R. Flotte, MD, Provost and Executive Deputy Chancellor of the University of Massachusetts Medical School, discusses a phase 1 clinical trial evaluating an AAV gene therapy in patients with Tay-Sachs disease. Tay-Sachs disease is a rare...
by James Radke, PhD | Mar 29, 2022
The U.S. Food and Drug Administration (FDA) has approved fenfluramine (Fintepla) for the treatment of seizures associated with Lennox-Gastaut syndrome in patients 2 years of age and older. Last year, the orphan drug was approved for treating seizures in children with...
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 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...
