NHGRI / NIH
A National Institutes of Health program (NIH) to track down the causes of mysterious diseases fruit bearing. A multidisciplinary team of physicians and genetic researchers discovered the genetic cause of a strange illness afflicting vascular sisters that leads to an accumulation of calcium in the arterial walls, which causes hardening and joint pain.
The document of the group, published in tomorrow's issue of The New England Journal of Medicine , is the first report of a new genetic disease out of 3 years non Disease Program NIH diagnosed. It is a consortium of researchers from across NIH and volunteer experts from academic medical centers across the country that receive referrals for patients whose doctors were unable to diagnose. "A success like this we buoys emotionally and encourages us," the program director and co-author William Gahl, who is also clinical director of the National Human Genome Research Institute, said in a press conference Tuesday.
Since its inception in 08, the Undiagnosed Diseases Program received 1,700 customers and accepted 330 of them; researchers report seeing 150 to 0 patients a year. The objective of the program, Gahl said, is twofold: to diagnose patients whose disease escaped medical knowledge and to conduct research.
In 09, the program received a recommendation from a doctor to Kentucky two sisters, Paula Allen and Louise Benge, who suffered from joint pain and showed accumulation of calcium in the arteries in the X (above) rays. The images "amazed us," Gahl said. Team DNA samples obtained sisters and other family members (three siblings and Allen Benge had the same recessive disease) and scanned DNA markers called single nucleotide polymorphisms that researchers used to refine the location of the disease gene. Also examining the genetic region in two other families with similar disorders, the researchers were able to identify a mutation in a specific gene, NT5E , which is involved in the degradation calcification in the arteries.
The researchers named the ACDC disease (arterial calcification due to CD73 deficiency). The discovery revealed a previously unknown molecular mechanism for preventing calcification and may open approaches for treating patients suffering from the most common diseases of atherosclerosis and osteoporosis, said study lead author Manfred Boehm NIH.
Allen and Benge praised the "impressive" work by the NIH. "Even if they can not help us, maybe one day they can help someone else with these problems," said Benge. Boehm said a clinical trial of a drug to treat the sisters and other ACDC is currently being reviewed by an ethics committee.
The Undiagnosed Diseases Program is "marvelous; ... We were delighted when it started, "said Mary Dunkle, spokesman of the National Organization for Rare Disorders (NORD), a group of patient advocacy based in Washington DC. NORTH evoked a number of patients at NIH. "in our world, a lot of times the knowledge is acquired in small increments," said Dunkle. "There is always progress when they are able to identify something that is a complete new entity."
* This article has been corrected to reflect this February 4 study co-author William Gahl is the clinical director of the National Institute for Research on the human genome.
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