Rangel, Vanessa; Martin, Ann S.; Peay, Holly L. Version 15. PLoS Currents: Muscular Dystrophy. 2012 Jan 2 [revised 2012 Feb 29].Â
Numerous studies have been conducted comparing the accuracy of patient self-reported medical histories to their actual medical records.Â Generally, accuracy is 80%+ and varies by disorder.
The NIH Office of Rare Disease research workshop generated literature outlining the need for a comprehensive strategy for national patient registries.
Wall Street Journal on the shifting market for rare disease therapies.