9:30 - 9:45 amFriday, September 25
Plenary Hall
Standing Main Stage Talk - On unlocking treatments for rare diseases
Plenary Hall
Standing Main Stage Talk - On unlocking treatments for rare diseases
Physician, University of Utah

Matt Might is passionate about patient-driven precision medicine, accelerating drug development in rare disease and bending the cost curve in medical research with computation and social media. He is an active advisor to the newly established Undiagnosed Disease Network Coordinating Center at Harvard University, and he is a working group member for the President's large-cohort precision medicine initiative.

Dr. Might is also the father of the first patient ever discovered with a novel ultra-rare disorder, N-glycanase (NGLY1) deficiency. Diagnosed via exome sequencing in 2012, NGLY1 deficiency is estimated to have an incidence of roughly 1 in 5 million live births.

After being told it would take years or even decades to discover a second case, Dr. Might applied his expertise as a professor in computer science to find more cases through social media. It took two months to find the second case. In parallel, Dr. Might launched a collaboration with glycobiologist Dr. Hudson Freeze to understand and ultimately treat the disorder.

Two and a half years and 25 confirmed cases later, what began with one child and one research lab has become a patient-driven precision medicine research network spanning the globe. The network is dedicated to understanding, treating and curing the disorder. Several potential treatments are now being tested and nearing clinical trials.

Seth Mnookin chronicled the family's journey to a diagnosis, their use of social media to find patients and the establishment of the patient-driven research network in The New Yorker.

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