“It's still early days in the application of all this technology relative to its long-term potential, but even so, it's already producing some big wins for patients,” says Dr. Matthew Might, whose impactful career in computer science and medicine has been shaped by the rare disease odyssey of one of his children. His son, Bertrand, was the first person in the world diagnosed with a particular form of NGLY1 deficiency, a neurogenic degenerative condition that causes developmental delays, seizures and frequent infections. Unfortunately, Bertrand succumbed to an infection at the age of twelve in 2020 but by that time, Dr. Might's work in precision medicine had led to crucial discoveries for dozens of children with NGLY1 deficiency. Now, as director of the Hugh Kaul Institute of Precision Medicine at the University of Alabama at Birmingham, he uses an AI-based system programmed to connect the dots in extensive databases of medical literature to make inferences about potential therapies for uncommon diseases. Check out this fascinating conversation with host Shiv Gaglani about the promise of this approach, the challenges in repurposing drugs and conducting clinical trials in the rare disease community, the need for more genetic counselors and Dr. Might’s work on President Obama’s Precision Medicine Initiative, which he calls the Rosetta stone of the human genome. Mentioned in this episode: https://www.uab.edu/medicine/pmi/