Medical mission leads White House official to UAB

Director of Precision Medicine Institute draws inspiration from young son

OYSI: Medicine for me?

BIRMINGHAM, AL (WBRC) - The University of Alabama at Birmingham is betting big on the concept of personalized medicine with a multi-million dollar Precision Medicine Institute.

“If we become number one at Precision Medicine, in 20 years we will be number one at everything. I think that’s been a tremendous strategic investment by UAB,” the institute’s director, Matt Might, Ph.D., tells WBRC.

UAB is counting on Dr. Might’s experience to lead the way in this emerging field of individualized care. The school successfully recruited the Harvard professor and White House official by offering him a chance to make his vision for medicine a reality right away. Might’s vision is for doctors to create treatment plans specifically for each patient based on a wealth of information, including the person’s genome.

A computer scientist by trade and training, Might transitioned to the medical field after the birth of his first son, Bertrand, in 2007. Bertrand’s developmental delays and limitations were a mystery for several years as doctors struggled to figure out why he couldn’t do basic things like produce tears or communicate.

“It was a pretty scary ride,” Might told WBRC. “When he was born we had no idea what was wrong with him. He was having seizures. He had a movement disorder and a developmental delay.”

The big breakthrough for Bertrand came when his parents partnered with researchers to sequence his genome and find where a mutation existed in his genetic information. They discovered Bertrand was not producing enough of a specific enzyme, N-glycanase 1, that assists in recycling cellular waste. Bertrand was the first patient in the world found to have this mutation.

“I had a computer scientist’s view of biology at the time. I thought ‘well DNA is just a bunch of letters. Can’t we just look at his letters and see which one is the typo?'”

While working as a professor at the University of Utah, the super computing and cyber security expert partnered with medical professionals all over the world to look for treatments that could help Bertrand. They predicted, and were proven correct, that he was deficient in one particular compound, N-Acetyl Glucosamine. They discovered that supplement is readily available online. In the years since that landmark moment, other easily attainable products like Prevacid and Sulforaphane have helped Bertrand make significant gains in his development. He is now seizure free, has perfect vision and is learning to communicate with a device similar to the one used by Stephen Hawking.

At UAB we are now set-up to handle any medical mystery you can throw at us.
Matt Might, Ph.D., Director of the Precision Medical Institute

Might’s experience navigating the complexities of a previously unknown disease eventually lead to work as a professor of Biomedical Informatics at Harvard University and an appointment to the White House Precision Medicine Initiative in 2016. From there, UAB came calling with an opportunity to replicate his success with Bertrand for hundreds of patients by setting up the Hugh Kaul Precision Medicine Institute.

With a little over a dozen faculty members and staffers, the institute is focusing on three specific areas. A precision oncology initiative is currently leading two sizable clinical trials and looking at ways to better treat many different forms of cancer. A rare and undiagnosed diseases program helps patients like Bertrand identify and treat conditions previously unknown to medical professionals. The third focus area for the institute is a pharmacogenomics program that looks at the patient’s DNA information, or genome, to predict how he or she will interact with the prescription drugs available to treat a condition.

“We are really trying to rethink how medicine is done,” says Might. Within the next year he wants to see the country’s first precision medicine clinic open its doors on UAB’s campus.

“I would tell those parents who don’t know what to do with their child, bring them to UAB and let’s find a root molecular cause for that disease.”

For more information on UAB’s Precision Medicine Institute, click here.

For more information on Bertrand’s condition, visit NGLY1, a non-profit established by his parents.

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