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, 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.
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.
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).
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, Director of Development for the American Porphyria Foundation, provides an overview of her foundation and this rare disease.