Chief Guests - 2018

William A. Gahl, M.D., Ph.D.

“Most individuals with a rare disease have spent considerable time undiagnosed. When they finally achieve a diagnosis they often enter a small community of advocates who nurture them, even if there is no cure. Across the world, language and cultural barriers separate persons with the same rare disorder, but caring and devotion and shared endurance bring them together. Rare Disease Day is a time when people all over the earth can celebrate together the unique virtues we have in common as humans: compassion, understanding, empathy, and an indomitable spirit. As Ernest Hemingway said, ‘The world breaks everyone, and some grow back stronger in the broken places.’ Today we are no longer alone or broken; we are all in this together and growing stronger by the minute.”

Clinical Director, National Human Genome Research Institute

Head, Undiagnosed Diseases Program

B.S. Massachusetts Institute of Technology, 1972
M.D. University of Wisconsin, Madison, 1976
Ph.D. University of Wisconsin, Madison, 1981

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Dr. Cynthia Tifft, M.D., Ph.D.

Dr. Tifft’s clinical and research interests for many years have been lysosomal disorders affecting the central nervous system. She is principal investigator of the largest cohort of patients with GM1 gangliosidosis where she is studying clinical and biochemical markers of disease progression. She has also been a principal investigator in clinical trials of enzyme replacement and small molecule therapies for Gaucher, Pompe and Tay-Sachs diseases.

Deputy Clinical Director, Office of the Clinical Director

B.A. University of California, San Diego, 1973
M.S. Rutgers University, 1975
Ph.D. University of Texas, Houston, 1981
M.D. University of Texas, Houston, 1983

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