http://www.guardian.co.uk/science/2010/oct/17/genetics-undiagnosed-diseases
This article (though it is from England) explains in detail the NIH (National Institutes of Health) program for people with mystery disease. It starts off by giving the story of DaGlynn Wade, who was a successful lawyer who suddenly lost her vision without any explanation or correct diagnosis from doctors. She was referred to the NIH's 'Undiagnosed Diseases' program. This program takes in patients with all sorts of strange aliments and attempts to find their cause, usually by some sort of genetic testing.
The program does have a few difficulties -- because anyone can apply and be granted admission to the program, many of the people do not have true mystery diseases. Many are just hypochondriacs or were just badly diagnosed. Also, because the diseases are mostly likely new and badly understood, progress is extremely slow.
Once a case is truly shown to be a bona fide medical mystery, it is taken and studied by the case team. Usually an MRI along with several genomic tests are done, because most of these diseases are assumed to have a genetic basis or at the very least a genetic factor.
The article elaborated on a disease that causes the calcification of blood vessels, and how the research team used a genetic test called the million snp array analysis to determine that the cause was from a set of genes on chromosome 6.
This new type of genetic work at the NIH is likely to uncover and explain many new diseases.
I thought this article was very interesting and it caught my eye because I have a friend who has seen many doctors who cannot explain her stomach problems. It makes me wonder if she would find out anything about this if she did some sort of genetic test. From a less personal standpoint, I found this article very insightful and I'm curious to see what other diseases the NIH may be able to explain using information on the human genome.
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