by Peter Ciszewski | Jan 14, 2020
Claudio Santos, MD, MBA of PTC Therapeutics provides an update on the orphan drug being developed by the company, in partnership with Roche, to treat spinal muscular atrophy (SMA). The drug, risdiplam, is a survival motor neuron-2 (SMN2) splicing modifier...
by Peter Ciszewski | Jan 13, 2020
Adrian Woolfson, MD, PhD, of Sangamo Therapeutics talks about the physical and psychological advantages of using gene therapy to treat hemophilia A. Hemophilia A is a genetic blood disorder caused by a missing or defective factor VIII. Symptoms are dependent on...
by Peter Ciszewski | Jan 10, 2020
The U.S. Food and Drug Administration (FDA) has approved Ayvakit (avapritinib) for treating adults with unresectable or metastatic gastrointestinal stromal tumor (GIST) with a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation. The approval was...
by Peter Ciszewski | Jan 10, 2020
Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions....
by Peter Ciszewski | Jan 9, 2020
Michael E. Wechsler, MD, MMSc, Professor of Medicine at National Jewish Health and University of Colorado School of Medicine talks about the need for clinicians to be more aware about Eosinophilic granulomatosis with polyangiitis (EGPA). This rare autoimmune...
