Tedx Talk: Dr. William Gahl

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.


TEDx Talks (2011, April 26). Medical Mysteries and Rare Diseases: William Gal at TEDxCMU 2011. Retrieved from https://www.youtube.com/watch?v=aMMBmc_pQVA&list=PLXGuqM-FQFlj13QqANyOcFNTtXGMfIpn5

Today is Undiagnosed Day – April 29, 2016!

A Message from the Rare and Undiagnosed Network Wesite:

What does “Undiagnosed” mean?

“An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation.”

What is Undiagnosed Day?

Undiagnosed Day takes place on the last Friday of April each year. The main objective of Undiagnosed Day is to raise awareness among the general public and decision-makers about undiagnosed diseases and their emotional, physical and financial impact on the lives of the patients and their families.

The campaign targets primarily the general public and also seeks to raise awareness among policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in undiagnosed diseases and genetics. Since 80% of rare and undiagnosed diseases have identified genetic origins, it is imperative to raise awareness for the importance of genetics in the diagnostic odyssey of undiagnosed patients.


We created the Undiagnosed ribbon from Ava Szajnuk’s drawing. Ava is eight years old and Undiagnosed. Since zebras represent the rare community, we envisioned having a zebra ribbon with baby blue and baby pink colors added to it. Undiagnosed community is a part of the rare community but they stand alone as well. All rare diseases were once Undiagnosed.

Help us raise awareness for Undiagnosed Day on April 29, 2016.

Thank you for your continued support of the Undiagnosed community.

Please email gina@rareundiagnosed.org if you would like to join our Undiagnosed Alliance.

Gina Szajnuk
RUN Co-founder and Executive Director
RUNmyDNA Co-founder
Utah Rare 2016 Committee Chair
NORD Utah State Ambassador
W http://www.rareundiagnosed.orghttp://www.runmydna.comhttp://www.utahrare.orghttp://www.rarediseases.org
E ginaszajnuk@gmail.com – gina@rareundiagnosed.org – gina.szajnuk@rareaction.org
P (310) 883-4353

(Retrieved from http://rareundiagnosed.org/undiagnosedday-governor-herberts-declaration-april-29/)