Rare and Genetic Disease Network
Ido Weinberg, MD, Medical Director, VASCORE; Assistant Professor of Medicine at Harvard Medical School, Co-Medical Director, Anticoagulation Management Services, Massachusetts General Hospital, discusses diagnostic challenges of treatment limitations of Fibromuscular Dysplasia (FMD).
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 management and treatment of Spontaneous Coronary Artery Dissection (SCAD).
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health discusses the differential diagnosis of Mucopolysaccharidosis type I (MPS I), a condition that affects many parts of the body. MPS I is a condition that affects many parts of the body.
Jeffrey W Olin, DO, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, discusses the “string of beads” as the description typically given to the appearance of the renal artery in fibromuscular dysplasia (FMD).
Ilan Ganot, Co-Founder, President and CEO of Solid Biosciences discusses how his company views advocates and patients who have Duchenne muscular dystrophy (DMD). Mr. Ganot started Solid in 2013 to find treatments, and potentially a cure, for DMD, a disease that afflicts his son Eytani.
Kristen Wheeden, Director of Development for the American Porphyria Foundation, provides an overview of her foundation and it’s focus on physician education. The American Porphyria Foundation is also dedicated to the health and well-being of patient and families impacted by Porphyria.
As Dr. Brown explains in this video, gene therapy is ideal suited for many rare diseases since most rare diseases have a genetic origin. But with 6000 – 7000 known rare diseases and with gene therapy costing over $1 million a therapy, the cost of developing gene therapy for many of the 30 million Americans with a rare condition is not sustainable.
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, provides an overview of his company, including its focus on rare diseases.
Malissa J. Wood, MD at Harvard Medical School discusses the iSCAD Registry, which develops and maintains an independent, multi-center data repository to advance the pace and breadth of SCAD research around the world. Spontaneous coronary artery dissection (SCAD) is a rare condition and occurs when a tear forms in one of the blood vessels in the heart.
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.
Ido Weinberg, MD, Medical Director, VASCORE; Assistant Professor of Medicine Harvard Medical School, Co-Medical Director, Anticoagulation Management Services, Massachusetts General Hospital, discusses Fibromuscular Dysplasia (FMD) in men and women and its relationship to Spontaneous Coronary Artery Dissection (SCAD).
Debra Miller, founder of CureDuchenne, discusses research activity in Duchenne muscular dystrophy (DMD) and the role of the advocate in this rare disease.