Rare and Genetic Disease Network
Arndt Rolfs, MD, Chief Executive Officer of Centogene, discusses the challenges of diagnosing rare diseases. Dr. Rolfs tells the story of his early days of practicing medicine. While on vacation, he came across an article in the newspaper on a disease he had never heard of before.
Jeff Ajer, Executive Vice President and Chief Commercial Officer of BioMarin, discusses gene therapy. The development of these transformative therapies has triggered discussions about market access challenges, the viability of alternative financing mechanisms, and the results for patient access.
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD) discusses some of the challenges facing the rare disease community, including the perception that drug pricing for orphan drugs is a driving force behind rising drug prices.
The Food and Drug Administration (FDA) granted fast track designation to APR-246 for the treatment of patients with myelodysplastic syndrome who have TP53 mutations.
Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, a progressive condition that affects most tissues and organs.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births.
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
Gail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, provides an overview of primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
Michael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification during the Rare Disease Day at NIH 2019 on Thursday, February 28, 2019.
Erica B. Esrick, MD, Hematologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center reported on her pilot trial in which one adult patient with Sickle Cell disease (SCD) received an infusion of his own stem cells in which a genetic “switch” was flipped on to induce the cells to both start producing healthy hemoglobin and stop producing unhealthy “sickle” hemoglobin.