News of the WeekBiomedical Research

Patients Help Track Down Disease Gene

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Science  02 Jun 2000:
Vol. 288, Issue 5471, pp. 1565-1567
DOI: 10.1126/science.288.5471.1565

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A patient advocacy group called PXE International has helped three research teams pinpoint the identity of the gene for pseudoxanthoma elasticum (PXE), a rare inherited disorder. Two labs report their results in the June issue of Nature Genetics; the third group published its findings in the 23 May Proceedings of the National Academy of Sciences. All the researchers say that having a group of families willing to work with them was critical to their success.