Dr. William Gahl

“Desperate for answers,” – that is how William Gahl, M.D., Ph.D., has described many of the patients and families he sees with puzzling disorders. Dr. Gahl is clinical director of the National Institutes of Health (NIH) Undiagnosed Diseases Program. The program aims to provide answers to patients who’ve been suffering for years with mysterious conditions that have long eluded diagnosis. Dr. Gahl’s work has played a significant role in advancing medical knowledge about rare and common diseases.

As a leading medical geneticist and clinical director of the National Human Genome Research Institute at NIH, Dr. Gahl has described the underlying biological and genetic factors behind many rare diseases. Dr. Gahl will share his compelling research and work with patients with rare diseases during his keynote presentation at this year’s Individualizing Medicine Conference. Mayo Clinic Center for Individualized Medicine will host the conference on Oct. 9-10 in Rochester, Minnesota.

In his conference presentation “The NIH Undiagnosed Diseases Program: Expansion to National and International Networks,” Dr. Gahl will discuss how the Undiagnosed Disease Program has served as a model for the creation of both national and international networks to advance research for rare diseases.

After establishing the Undiagnosed Disease Program in 2008, NIH extended the program’s reach by establishing the Undiagnosed Disease Network in 2012. The network includes seven centers throughout the United States and its goals are to:

• Improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by a large community of investigators.
• Facilitate research into the causes of undiagnosed diseases, by collecting and sharing standardized, high quality clinical, genomic and laboratory data.
• Create an integrated and collaborative community across multiple clinical sites and among laboratory and clinical investigators prepared to investigate these new and rare diseases.

In 2015, NIH collaborated with the Wilhelm Foundation in Sweden to expand research into rare diseases by creating the Undiagnosed Disease Network International. Researchers from Mayo Clinic Center for Individualized Medicine are participating in this international effort to collaborate and share data on rare disease in order to solve more unexplained medical cases. Mayo Clinic’s rare and undiagnosed disease program has been able to make a diagnosis for nearly one-third of all patients with puzzling medical conditions.

Dr. Gahl has published more than 380 peer-reviewed papers and trained over 40 biochemical geneticists. He received the Dr. Nathan Davis Award for Outstanding Government Service from the American Medical Association, the Service to America Medal in Science and the Environment, the RareVoice Award for a Government Agency Leader and numerous other awards.

Attend 2017 Individualizing Medicine Conference

Hear Dr. Green and other world-renowned experts discuss the latest research in precision medicine and how it can be applied to improve treatments for many conditions at Individualizing Medicine 2017: Advancing Care Through Genomics.

The Mayo Clinic Center for Individualized Medicine, is hosting the sixth annual genomics conference, October 9–10, in Rochester, Minnesota.

• Register today via the conference website.
• See the schedule.
• Review the list of speakers.
• Follow the latest news related to the conference on the Center for Individualized Medicine blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon17.

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