Apr. 27, 2017
Posted by Christina Jensen
Ten years ago, Dr. Matthew Might was working in computer science and knew very little about the world of rare diseases. Today, he runs his own rare disease research institute at the University of Alabama, serves as a White House strategist for the Precision Medicine Initiative, and is an active advisor to the Undiagnosed Diseases Network coordinating center at Harvard University.
“I want to do as much as I possibly can for anyone with a rare disease and for a parent with a child with a rare disease,” he says.
How did this journey begin? At four years old, after years of testing, Matt’s son Bertrand was diagnosed with N-glycanase deficiency, or NGLY1 deficiency. Bertrand was the first known case of NGLY1. To be sure of its cause and understand how it might be treated, the family set out to find other cases.
Matt’s previous successes as a computer scientist sparked an idea: write an online article about Bertrand’s condition to help find others like him. He published the piece, “Hunting Down My Son’s Killer,” on his personal website. Matt’s goal to create a “Google dragnet” was indeed successful. Within 24 hours, the blog post had gone viral, quickly picking up traffic on search engines and forming a successful online presence for NGLY1.
One after another, the post turned up new cases of NGLY1. In just 13 months after Bertrand’s diagnosis, Matt’s blog had helped to uncover nine more cases. As the families connected, the fight against NGLY1 grew stronger. Soon the families were meeting one another to share stories and fund research. They became a community with one goal in mind: eliminate the challenges of NGLY1 deficiency through research, awareness and support.
Using his knowledge of data modeling, Matt identified two FDA-approved compounds that seemed like they could help Bertrand. After three days on one particular compound, his son started crying tears for the first time, making him the first child with this disease to ever cry. Dr. Might has since co-founded a company that conducts personalized drug screens for genetic epilepsy.
“It’s an understatement to say that Bertrand has changed our lives,” Matt says.
As research unfolds for NGLY1, he knows that there are others in the world who may be the first with their condition. “There is a commonness to every rare journey,” he adds. “If there is anything I can do to help them, I feel an obligation to do it.”
In his lab, Dr. Might’s interests focus on the intersection of computation and medicine to advance precision medicine through personalized therapeutics, which in his words means “data-driven, genome-driven medicine, all about delivering the right medicine to the right patient at the right time.”
NORD is honored to present Dr. Matthew Might with a 2017 Rare Impact Award.
Help NORD honor Dr. Might by attending the Rare Impact Awards. Register to attend here.