AN 18-month wait for a diagnosis might seem extreme, but not when the medical disorder in question was formerly unknown.
In 2008, the US established the (UDP) to help people with mysterious conditions. This week it announced its first big discovery: the genetic and molecular basis of a previously unexplained condition that causes painful calcification of the arteries.
聯The Undiagnosed Diseases Program helps people with mysterious conditions that elude diagnosis聰
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Currently, only nine individuals are known to have the disorder, dubbed 鈥渁rterial calcification due to CD73 deficiency鈥�. Researchers analysed the DNA of five affected siblings and found that they all had mutations of the NT5E gene, which codes for the CD73 enzyme that produces adenosine 鈥� a molecule that helps prevent arteries from calcifying (The New England Journal of Medicine, vol 364, p 432). The findings offer targets for a treatment.
The discovery is impressive for its speed and technical prowess, says William Gahl, director of the UDP. 鈥淭he role of adenosine was not known before.鈥�
