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...
by Peter Ciszewski | Apr 28, 2022
Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, describes his daughter’s diagnostic journey. AADC deficiency is a rare genetic disorder that affects the nervous and musculoskeletal systems of young patients. It...
by Peter Ciszewski | Apr 25, 2022
Deirdre Kelly, MD, FRCP, FRCPI, FRCPCH, Consultant Pediatric Hepatologist, Liver Unit, Birmingham Women’s and Children’s Hospital and University of Birmingham, discusses management options for patients with progressive familial intrahepatic cholestasis (PFIC)....
by Peter Ciszewski | Apr 22, 2022
Juan Roman, Vice President at Krystal Biotech, gives an overview of dystrophic epidermolysis bullosa (DEB). As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode...
by Peter Ciszewski | Apr 21, 2022
Edward Neilan, MD, PhD, Chief Scientific and Medical Officer at the National Organization for Rare Disorders (NORD), discusses the organization’s recently established Rare Disease Centers of Excellence. As Dr. Neilan explains, there were two main goals when...
