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Medical Mysteries

Medical Mysteries and Rare Diseases

Medical Mysteries and Rare Diseases

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 unprofitability. 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. About TEDx, x = independently organized event In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are

Medical Mysteries and Rare Diseases

Discussion

3 Responses to “Medical Mysteries and Rare Diseases”

  1. Full support for such an initiative. I havea rare disease, and only people like me can relate to this problem. Good luck to Dr Gahl and his team. I got to know of his NIH group through a recent Scientific American article. This is as close you get to a real-life ‘Dr House’ setting.

    Posted by sharasiar | December 8, 2011, 6:30 pm
  2. I have a 1.5 year old son with a fatal rare disease, Dr Gahl is among a handful of ppl doing this research in the WORLD. Use common sense – help 25 million ppl ; One shoe does not fit all !

    Rare diseases need rare exceptions. Imagine having someone with a fatal disease; all they need is a re-look at a policy.

    Help us as smart people, help as with common sense. Please, take 10 seconds to spread this message.

    Posted by sid03121976 | December 8, 2011, 7:11 pm
  3. Those of us with Hermansky-Pudlak Syndrome know Dr. Gahl well. He’s such a brilliant and caring physician. We love him. As people with an ultra rare disorder, we hope and pray that some of these issues are solved. We pray and cheer for our researchers daily. When they make a breakthrough, it would be such a tragedy to have it tied up in red tape while we pass away from our disease.

    Posted by hkdawn | December 8, 2011, 8:10 pm

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