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Undiagnosed Diseases Program Cracks Its First Medical Case

By Patrick Morgan
Feb 4, 2011 10:38 PMNov 20, 2019 3:22 AM


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What would you do if calcium deposits were building up in your blood vessels and making it hard to walk, and your doctors said they couldn't help because they had no idea what disease you had, or how to treat it? Before 2008 you wouldn't have had many options, but thanks to the National Institute of Health (NIH) you now have at least one: visit the Undiagnosed Diseases Program--where medical researchers just cracked their very first case. Located in Bethesda, Maryland, this program takes on the medical cases that stump other hospitals. The program has received over 1700 referrals since it started, and has accepted only 330 of them. The results of their first case were published this week in The New England Journal of Medicine, but it all started with dumbfounded doctors and some confusing x-rays:

In 2009, the program received a referral from a Kentucky doctor for two sisters, Paula Allen and Louise Benge, who suffered from joint pain and showed calcium buildup in their arteries in x-rays.... The images "astounded us," [program director William] Gahl said. The team obtained DNA samples from the sisters and other family members (three of Allen and Benge's siblings had the same recessive disease) and scanned the DNA for markers called single nucleotide polymorphisms that the researchers used to narrow the location of the disease gene. By also examining this genetic region in two other families with similar disorders, the researchers were able to pinpoint a mutation in a specific gene, NT5E, which is involved in breaking down calcification in the arteries. [ScienceInsider]

The new genetic disease has been dubbed ACDC (sorry, music fans), which stands for arterial calcification due to CD73 deficiency. Researchers consider the investigation and diagnosis a triumph for the program:

"A success like this buoys us emotionally and encourages us," program director and study co-author William Gahl, who is also director of the NIH Clinical Center, said in a press conference Tuesday. [ScienceInsider]

But the experts haven't yet learned how to treat the disease effectively, so the breakthrough is bittersweet for the two sisters.

Allen and Benge praised the "impressive" work by NIH. "Even if they can't help us, maybe someday they can help someone else with these problems," said Benge. [ScienceInsider]

Their hope lies in what the NIH is currently working on: a clinical trial to treat ACDC that has the potential to also treat other diseases, such as atherosclerosis. And the sisters wouldn't be the only ones to benefit from the ACDC treatment: nine people have already been diagnosed with this disease. The benefits of the NIH program shouldn't stop there, as University of Washington geneticist Michael Bamshad explains:

"There are probably hundreds, if not thousands, of syndromes with the same potential that await discovery." [Nature]

Aside from the thrill of cracking its first case, though, and the potential for cracking many others, the Undiagnosed Diseases Program represents much more:

“Patients who have rare diseases are often abandoned by the medical community,” Dr. Gahl said. “We don’t know how to treat if we don’t have a diagnosis. The way our society treats abandoned individuals is a measure of our society. It speaks to how our society treats the poorest among us.” [New York Times]

Related Content: 80beats: Could a Fetus’s Genetic Disorder Be Cured by Mom’s Stem Cells? 80beats: The Human Genome at 10: What It Did—and Didn’t—Deliver 80beats: Big Autism Study Reveals New Genetic Clues, but Also Baffling Complexity Discoblog: What’s in a Name? Real Diseases Suffer from Silly Name Syndrome DISCOVER: It's Time for a New Global War on Childhood Disease DISCOVER: Hank Greely Warns About the Risks of Personal Genomics Image: NHGRI/NIH

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