Got a Weird Disease?

"How does this picture make you feel?" I asked Doug.


He thought for a moment. "Squishy?"


"Crunchy" would be more accurate, since this x-ray shows calcification inside someone's artery. (It gives me the willies, but that's not important.) The crunchiness comes from a rare genetic disease that was recently discovered by the National Institutes of Health's Undiagnosed Diseases Program.


The NIH launched their Undiagnosed Diseases Program in 2008 with the goal of understanding mysterious, House-worthy medical disorders. Since then, they've received more than 1200 referrals from physicians, and accepted closer to 200 of those cases for study. Out of all those cases, this is the first with a diagnosis.


NIH researchers studied the DNA of several family members who shared strange symptoms. They had calcification in the arteries of their lower bodies and hands and feet, along with, unsurprisingly, joint pain. Eventually, the researchers were able to pinpoint the problem: a mutation in the gene that codes for a protein called CD73. When this protein is functioning normally, it helps prevent calcium buildup. The scientists named their discovery "arterial calcification due to CD73 deficiency," or ACDC. (Cute.)


On the surface, it might seem inefficient for the government to put large amounts of money and manpower into a program that, in three years, has diagnosed one disease affecting nine people. But the reality is that scientists don't understand the function of most of our genes, and the genome's freak accidents can give us information about how things are supposed to work. The field of neuroscience was a big gray unknown before people like that guy with the spike through his head (or all of Oliver Sack's patients) came along and showed us, with their one-in-a-million problems, what the rest of our brains are doing right. The Undiagnosed Diseases Program, by focusing on minutiae, might unlock some of the secrets of the normally functioning human genome.


If you are at least six months old, are able to travel, and have a bizarre, undiagnosed disease of your own, you can apply to join the program. The NIH might fly you to Bethesda--but they make no promise to treat you.


Photo: NHGRI/NIH