Moneyball Medicine

How Matthew Might Is Using Computation to Fight Rare Diseases

Informações:

Synopsis

Harry's guest this week is Matthew Might, director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham. Might trained as a computer scientist, but a personal odyssey inspired him to make the switch into precision medicine. Now he uses computational tools such as knowledge graphs and natural language processing to find existing drug compounds that might help cure people with rare genetic disorders.Might's odyssey began with the birth of his first child, Bertrand, in 2007. Bertrand seemed healthy at first, but soon developed a cluster of symptoms including developmental delay, lack of motor control, inability to produce tears, and epilepsy-like seizures.  For more than four years, doctors were unable to diagnose Bertrand's condition. But eventually a technique called whole exome sequencing revealed that he had no functioning gene for NGLY1, an enzyme that normally removes sugars from misfolded proteins. Bertrand, it turned out, was the first person in the world to be diagnos