This educational video is produced by Fragile X Association and covers symptoms, diagnosis, and treatments of this rare disease.
Biomarkers for Type 1 Gaucher Disease | Video
The use of biomarkers can provide valuable insight into the molecular pathogenesis of lysosomal storage diseases such as Gaucher disease and Fabry disease. Dr. Pramod Mistry discusses biomarkers as they pertain to patients with type 1 Gaucher disease. In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of …
Schnitzler syndrome: What you need to know – Mayo Clinic
Discussion of Schnitzler Syndrome – Video Schnitzler syndrome is a rare disease characterized by a chronic urticarial rash that resists most types of standard therapy. Other symptoms may include fever; bone and joint pain; muscle aches; enlarged lymph nodes, liver or spleen; and anemia. In this video, Mayo Clinic hematologist …
Medicines for Rare Diseases
Discussion of Medicines available to treat Rare Diseases – Video The European Medicines Agency plays a central role in the development and authorisation of medicines for rare diseases. These medicines are termed ‘orphan medicines’ in the medical world. Rare diseases are defined as life-threatening or chronically debilitating conditions that affect …
Orphan Drugs: Costs
Discussion of Orphan Drug Costs – Video Last week, Nick Bagley argued that the benefits of the Orphan Drug Act are more elusive than commonly assumed. Nick Bagley, a professor of law at the University of Michigan discusses the costs of orphan drugs in this second of a four-part series.
Orphan Drugs: An Introduction
Discussion of Issues concerning Orphan Drugs – Video In the United States, the median price for an orphan drug is about $100,000 per year, twenty times the price of the median non-orphan drug. Given the staggering cost, you’d think we’d have a solid handle on whether that money is well-spent. But …
