National Health Detective Squad Uses Genomic Tools to Diagnose its First Mysterious Disease
Digging into DNA Madprime via Wikimedia Medical detectives National Institutes of Health have just cracked their first case wide open, a result they hope to repeat with a slew of other uncharacterized illnesses and conditions. The Undiagnosed Diseases Program (UDP), a sleuthing agency set up within the NIH in 2008 to connect the dots between cases of undiagnosable illnesses, has traced the source of an extremely rare vascular disorder back to its genetic roots, notching the first closed case for the UDP and another victory for diagnosis genomics. The case: a rare and debilitating buildup of calcium in the below-the-waist arteries and joints of a small sample of individuals; only nine individuals from three different are known to have the disorder. The likely culprit: a faulty gene, particularly one that may involve recessive inheritance, in which offspring receive copies of a gene variant from each parent that only cause disease...