Rare and Genetic Disease Network
Debra Miller is the founder and CEO of CureDuchenne, and in this video she discusses some of the current clinical research in Duchenne muscular dystrophy (DMD) and the hope of a possible cure.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the common early features of ,mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Ido Weinberg, MD, Assistant Professor of Medicine at Harvard Medical School, Co-Medical Director, Anticoagulation Management Services, Massachusetts General Hospital, provides an overview of Fibromuscular Dysplasia (FMD).
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses his company’s role in identiying rare diseases. In this video, Dr. Rolfs says that his company has the industry’s largest diagnostic potfolio.
Malissa J. Wood, MD at Harvard Medical School provides an overview of spontaneous coronary artery dissection (SCAD), a rare condition in which blood accumulates between the layers of tissue that make up the wall of the coronary artery (the vessel that supplies blood to the heart).
The FDA’s Oncologic Drugs Advisory Committee (ODAC) voted 12-3 that the benefits of pexidartinib outweigh the risks for the treatment of adults with tenosynovial giant cell tumor (TGCT) not amenable to surgical resection.
The process for researching and developing new medicines is notoriously time-consuming, complicated and costly – and even more so when it comes to therapies for rare diseases.
Kristen Wheeden, Director of Development for the American Porphyria Foundation, discusses some of the challenges in diagnosing this rare disease.
Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).
Jeffrey W Olin, DO, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, discusses diagnosing and treating fibromuscular dysplasia (FMD), a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow.
Vanessa Vogel-Farley, Executive Director of the Dup15q Alliance, discusses research in this rare disease, including the ARCADE trial, a phase 2 open-label pilot study.
Anne R. Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences at the National Institutes of Health discusses rare disease research.