by Peter Ciszewski | Apr 4, 2022
Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, lists two things what he wished physicians and parents knew about the ultra-rare disease. AADC deficiency is a rare genetic disorder that affects the nervous and...
by Peter Ciszewski | Apr 1, 2022
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children’s Hospital of Orange County, discusses RGX-111, an investigational gene therapy for mucopolysaccharidosis type I (MPS I). Data...
by Peter Ciszewski | Mar 29, 2022
Jerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, discusses the advantages that gene therapy has over enzyme replacement therapy (ERT) for genetic conditions such as Fabry disease. Fabry disease is a...
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 Peter Ciszewski | Mar 24, 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...
