by Peter Ciszewski | May 6, 2022
Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, discusses the positive preliminary data from the first 3 patients treated in the phase 1 portion of the phase 1/2 clinical trial of INZ-701 in ENPP1 deficiency...
by Peter Ciszewski | May 5, 2022
David Weinstein, MD, Senior Vice President of Clinical Development at Passage Bio, provides an overview of GM1 gangliosidosis. As Dr. Weinstein explains, GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the GLB1 gene, which...
by Peter Ciszewski | May 3, 2022
Patrick Horn, MD, PhD, Chief Medical Officer at HemoShear Therapeutics, discusses treatment options for methylmalonic acidemia (MMA) and propionic acidemia (PA). MMA and PA are rare inherited metabolic disorders in which the body is unable to process certain...
by Peter Ciszewski | May 3, 2022
Dean Suhr, President and Co-Founder of the MLD Foundation, gives an overview of metachromatic leukodystrophy (MLD). As Mr. Suhr explains, MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA) deficiency. It is characterized by the accumulation of...
by Peter Ciszewski | Apr 29, 2022
Jennifer Saucier, Board-Certified Genetic Counselor and Senior Director of Clinical Genetic Services at Natera, discusses the difference between screening and diagnostic testing. As Ms. Saucier explains, screening tests are designed to determine the risk of a...
