Thursday, March 1, 2012

Rare disease awareness

Exceprt from:
At about 13 minutes, it references Dr. Enns and the EPI-743 drug study.

"Defined by law, a rare disease is defined as a disease that affects less than 200,000 people each. With more than 6,000 rare diseases, it affects up to 25 million American’s. Rare disease treatments are difficult to come by, why? Because it’s not profitable for pharmaceutical companies to invest in a disorder that involves only 20… 500 people… "

About the speaker from the TEXx program: Dr. William Gahl who was called a "super--diagnostician" by the University of Wisconsin School of medicine, leads the Undiagnosed Diseases Program (UDP) at the NIH and essentially sees patients who lack a diagnosis after years of visits to other doctors. He describes a bunch of intriguing and mystifying cases and goes through the logic and teamwork required to solve them. He also brings to light an important problem as cures and drugs for people with rare diseases are often overlooked because of their unprofitably.

William Gahl, MD, PhD is the clinical director of the National Human Genome Research Institute at the US National Institutes of Health. He also studies very rare inborn errors of metabolism and recently encountered a disease so rare that he, essentially, discovered it. The media has often compared him to the fictional Dr. House, but where exactly do the similarities end? Dr. Gahl's work has been featured in CNN, Newsweek, People Magazine, The New York Times, and Nature. In 2011, Dr. Gahl received the American Medical Association' s highest honor, the Dr. Nathan Davis Award for Outstanding Government Service.

Thanks to Edison Pharma for taking a chance on Mito kids and producing EPI-743. I wish peer pressure worked in the pharma world and the FDA... kids are dying because it's not profitable to save them. That disgusts me.

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