by Peter Ciszewski | Apr 18, 2019
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. In addition, FDA also granted Orphan Drug Designation to APR-246 for treatment of MDS. “The...
by Peter Ciszewski | Apr 16, 2019
Heather A. Lau, MS, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses Mucopolysaccharidosis type VII (MPS VII), also known as Sly...
by Peter Ciszewski | Apr 12, 2019
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. Sensorineural hearing means it is caused by abnormalities...
by Peter Ciszewski | Apr 11, 2019
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. The autoimmune reaction damages bile ducts in the liver. Bile...
by Peter Ciszewski | Apr 10, 2019
Michael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification in reference to the Inherited Neuropathy Consortium (INC) during the Rare Disease...
