Thousands of hours of clinic visits, genetic tests, and number crunching by elite scientists pointed to a rogue gene as the cause of Bertrand Might's crippling condition. Lacking a healthy supply of N-acetylglucosamine, the product of Bertrand's malfunctioning NGLY1 gene, he suffered pain, seizures, and an inability to cry tears. That was heartbreaking in itself, and meant Bertrand would eventually go blind from scar tissue on his eyes.

"First human ever"

Might had a diagnosis. In fact, Bertrand “was the first human ever diagnosed with missing this gene and having it linked to a disease,” Might says. But a diagnosis alone wasn't going to protect Bertrand. So "the question became, can we treat it?”

Matt MightMatt Might, director of UAB’s Precision Medicine Institute, with his family.

Might wrote a blog post, seeking other potential patients with the same condition. He quickly found them, along with data-driven treatments that have helped Bertrand cry real tears, and significantly increased his once-slowed physical and mental development. Might also contributed to scientific research that is pointing the way to possible new therapies. He began helping other parents facing life with ultra-rare diseases, and was profiled in the New Yorker. In a short span, Might became a visiting professor of biomedical informatics at Harvard University and a member of President Barack Obama's Precision Medicine Initiative.

“We’ve established a blueprint for using precision medicine to go from disease discovery to therapeutic identification within one year,” Might says. “At UAB, we’re scaling it up in a big way.”

Precision medicine

Now he's the inaugural director of UAB's Hugh Kaul Precision Medicine Institute, where he is applying some of the same techniques that helped Bertrand at a far greater scale. That includes hiring research leaders from across the country with the support of a $7-million investment from the Hugh Kaul Foundation.

“We’ve established a blueprint for using precision medicine to go from disease discovery to therapeutic identification within one year,” Might says. “At UAB, we’re scaling it up in a big way.”

 

Learn more about Might's story in "The Power of One" from UAB Magazine and "Codebreaker" from UAB Medicine magazine

POWER THIS RESEARCH → THE POWER OF ONE → CODEBREAKER →