Anne R. Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the National Institutes of Health discusses gene therapy and how the NIH is looking at “platform approaches” for treatments for rare diseases.
Malissa J. Wood, MD, is co-director of the Corrigan Women’s Heart Health Program at Massachusetts General Hospital and associate professor of medicine at Harvard Medical School. In this video, Dr. Wood discusses the relationship between Fibromuscular Dysplasia (FMD) and Spontaneous Coronary Artery Dissection (SCAD).
The U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation to CAD-1883, an investigational treatment for spinocerebellar ataxia (SCA), a genetic disorder characterized by progressive loss of coordination, slurred speech, difficulty controlling eye movements and cognitive dysfunction.
The US Food and Drug Administration granted orphan drug designation for AT-007, a central nervous system (CNS) penetrant Aldose Reductase inhibitor (ARI) in the late stages of preclinical development for treating children with galactosemia.
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases.
The US Food and Drug Administration (FDA) has extended the indication for teduglutide (Gattex, Takeda) injection to children as young as 1 year old with short bowel syndrome (SBS) who need additional intravenous parenteral support. Teduglutide is the only glucagon-like peptide-2 (GLP-2) analog approved that improves intestinal absorption in patients …