A Collection of Rare Disease Posts
Rare Disease Day is held to raise much needed awareness to rare or orphan diseases. In order to qualify as a rare disease, its incidence rate must affect less than 200,000 people as established by the Congress of the United States with the Orphan Drug Act of 1983.1 In fact, the legislation, in addition to creating the definition, was also instrumental in changing the entire discussion and economy around orphan drug research in the US. For example, during the ten years prior to its implementation, less than ten treatments were approved. However, since1983, the Office of Orphan Products Development (OOPD), which incentivizes research on what were previously untenable developmental costs, has been integral to bringing more than 400 new treatments to market. 1
There are believed to be upwards as many as 7,000 rare diseases according to the NIH. Within their numerous centers, one, the National Center for Advancing Translational Sciences (NCATS), studies commonalities found among populations and diseases through collaborative studies.1 From that, the following programs for rare diseases have been made available:
- Rare Diseases Clinical Research Network (RDCRN)
- Therapeutics for Rare and Neglected Diseases (TRND)
- Rare Diseases Registry Program (RaDaR)
- Genetic and Rare Diseases Information Center (GARD)
Of course, with increased and vigorous reporting, collaborations, computer models, and even communications, the designations and prevalence of rare, and in fact, all diseases may change over time.
Here are a collection of Rare Disease Features from our archives:
A look at Bardet Biedl Syndrome and rare disease research products.
A PepTalk on a devastating pediatric lysosomal storage diseases.
VHL is s typified by abnormal growth of both benign and cancerous tumors which generally begin to appear in young adulthood.
A look at a rare form of epilepsy, Dravet syndrome.