A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993Â within the NIH Office of the…
News
The diagnosis of porphyria often is delayed, which highlights the need for increased awareness among clinical physicians. A case report by researchers in the United Kingdom illustrates that point as it describes a patient with acute intermittent porphyria that, despite having all the classical clinical features, was diagnosed tardily. The…
Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…
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