ChallengesExperts share their insights in diagnosing and managing rare conditions
- Dr. Ido Weinberg Provides an Overview of Fibromuscular Dysplasia (FMD)
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).
- Spontaneous Coronary Artery Dissection (SCAD) Overview
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).
- Challenges of Diagnosing Porphyria
Kristen Wheeden, Director of Development for the American Porphyria Foundation, discusses some of the challenges in diagnosing this rare disease.
- Diagnosing and Treating Fibromuscular Dysplasia (FMD)
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.
- Fibromuscular Dysplasia (FMD) Overview
Jeffrey W Olin, DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides an overview of 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.
- Peter Saltonstall: Our Payor System for Drugs Needs to Be Updated
Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD), discusses how our current drug payer system has not kept up with the science of medicine.
- Dup15q Alliance and Syndrome
Vanessa Vogel-Farley, Executive Director of Dup15q Alliance discusses her organization, which provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome.
- FDA Gants Orphan Drug Designation for LB-001 for the Treatment of Methylmalonic Acidemia
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to LB-001, a recombinant adeno-associated viral vector with human methylmalonyl-COA mutase (MUT) gene for the treatment of methylmalonic acidemia (MMA).
- Mucopolysaccharidoses: Current Therapies Offer Hope, but More Effective Treatments Are Needed
Heather A. Lau, MD at NYU Langone Health, discusses some of the treatment options for individuals with mucopolysaccharidoses (MPSs). Other than supportive treatments, current therapeutic options include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation.
- Kristen Wheeden: American Porphyria Foundation and Disease Overview
Kristen Wheeden, Director of Development for the American Porphyria Foundation, provides an overview of her foundation and this rare disease.