by Peter Ciszewski | Jun 29, 2022
Thierry Abribat, PhD, Chief Executive Officer of Amolyt Pharmaceuticals, discusses the mechanism of action of AZP-3601, a PTH analog, which is currently being investigated to treat patients with hypoparathyroidism. Hypoparathyroidism is a rare endocrine...
by Peter Ciszewski | Jun 27, 2022
Jennifer Saucier, Board-Certified Genetic Counselor, and Senior Director of Clinical Genetic Services at Natera, discusses noninvasive prenatal testing (NIPT), how it has increased the accuracy of screening for genetic disorders, and the future of prenatal...
by Peter Ciszewski | Jun 23, 2022
Patrick Horn, MD, PhD, Chief Medical Officer at HemoShear Therapeutics, gives an overview of methylmalonic acidemia (MMA) and propionic acidemia (PA). As Dr. Horn explains, MMA and PA are rare inherited metabolic disorders in which the body is unable to...
by Peter Ciszewski | Jun 22, 2022
Kirk Lamoreaux, Senior Healthcare Strategist, discusses ‘The Power of Being Counted,’ a report that was recently announced an estimated 10,867 rare diseases are known. As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to determine...
by Peter Ciszewski | Jun 21, 2022
Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives advice to parents of a baby diagnosed with ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/...
