Matt Might was worried something wasn’t quite right when his son, Bertrand, was a few months old. He was not meeting the typical milestones. At six months, Bertrand was having seizures — eventually hundreds a day — and not crying tears.
“It was terrifying. We had no idea what going on,” says Might of his son’s ordeal that began in 2007. “I spent all my time diving into the literature. I was lucky to be working at a university so that anytime I needed a paper, I could just download it.”
Bertrand was sick for four years before he was diagnosed with a new genetic disorder. Might and his wife, Cristina, had their genomes sequenced, and a geneticist compared it to Bertrand’s discovering he inherited two different mutations that kept him from making a certain enzyme.
Although the couple was excited their journey for an answer had ended, they quickly realized another quest for finding treatment had just begun. “Science is where you go when you have to do the impossible,” says Might.
The Mights’ story is one of many that highlight the impact of open science and open access. It’s through access to the latest research that patients and their families can find the best care and support.
Once his son’s condition was given a name, Might set out to learn all he could to help Bertrand. “To find answers, we needed more patients and we didn’t have time,” he says.
Might wrote a blog about Bertrand’s condition that he hoped would go viral and rank high when someone searched on Google. Within two weeks of posting, another patient was identified. Over time, Matt helped build a community of patients, researchers and doctors to focus on how to treat and cure Bertrand’s rare disease. It enabled the group to form a foundation and raise money for research. Members of the patient community then volunteered to participate in the research trials.
Experimenting with “drug repurposing” — where medicine is used for new purposes — Bertrand was put on three drugs that have worked. (One of the drugs could not have been found if it were not for a researcher who shared the results of a pre-publication paper with Might.) The medicines stopped his seizures, he was crying real tears and he was no longer in need of frequent hospitalization. Bertrand, now 11, still faces challenges with severe developmental delays, but is substantially better and a happy kid. “I’m optimistic,” he says.
Might became an advocate for “precision medicine” — delivering the right drug to the right person at the right time. Since the diagnosis, he changed careers from being a professor in computer science and now runs the Hugh Kaul Precision Medicine Institute at UAB, aimed at improving techniques to treat a range of rare diseases.
With Might’s help, Bertrand’s disease has gone from the unknown to a condition with multiple treatments. “Science is the systematic transformation of the unknown to the known,” says Might, who now has two other children ages 4 and 7.
At UAB, Might has helped develop a tool to digest abstracts from medical literature using artificial intelligence. This can help patients connect the dots with what might be therapeutic for a given condition. The powerful reasoning tool (mediKanren) was successfully prototyped about a year ago with funding from the National Institutes of Health and is available free to the public.
Might credits the help he’s been able to get for his son to the ability to tap into scientific research. Might recalls when he reluctantly signed over the copyright to his first published academic paper.
“I wanted it to be available to everybody. It just bristled me to hand it over to someone who did literally nothing to improve the quality of the work and who was going to lock it behind a pay wall,” Might says. “So I’ve always been an advocate for Open Access and it’s become increasingly important to me. I realized every time I grabbed a paper to help Bertrand through my work, it was something another parent could not do.”
As the Mights experimented with treatment options for Bertrand, they continued to do research and then share it with others. “I’m very much an open book, anything I find I publish,” Might says. “I’m very pro open science and beyond into open source. If there is code that backs up a paper, I also make that open source and publicly available.”
Going forward, transparency is key, says Might. “Restricting access to the full medical literature is going to cost lives,” says Might. Open Access has jumped to the top of his priority list following an incident last summer when patients were asking publishers for access to rare disease research and they got a tone deaf response. “At that point, I had to act. This is just wrong. People are dying because they don’t have access to this literature. I engaged,’” he says. “Suddenly there is real momentum to get something to happen.”
Might hopes there is support for legislation to require immediate open sharing of research funded with taxpayer money. “This goes way beyond health and patients helping themselves. It’s about unleashing the creative potential of American ingenuity.”