Monday, May 19, 2008

Sherlock Holmes, Omicist

A nice item in GenomeWeb about a new NIH initiative that's just brilliant -- using omics to try to solve rare disease mysteries. I've blogged on this topic before, and it's an obvious way to go -- particularly since the price of these genome studies is dropping so precipitiously.

As noted by the patient named in the report, finding a cause is not (alas!) the same as finding a treatment. But if many patients with mystery diseases are screened, there will almost certainly be some clues that do lead to useful remedies. It is also important to remember that very rare syndromes often shed important light on very common disorders. For example, a large number of rare tumor syndromes have illuminated key cellular mechanisms broadly relevant to tumorigenesis -- von Hippel-Lindau, neurofibromatosis, and many others. Having some molecular clue to the disease is infinitely better than a baffling list of symptoms.

1 comment:

Adopted... said...

People with rare diseases face more than simply the disease itself...

An example is fibromuscular dysplasia...look it up it will not tell you what other problems the patient may face, it isn't simply the arteries is their quality of life as well.

Dr. Nazli B. McDonnell / NIH has uncovered so much in the connective tissue NIH study. I would like to see comment on her recent research and activities.