Cerebral cavernous malformation isn't the kind of disease the average person is familiar with. But for the 0.5 percent of the population afflicted with the genetic affliction — which causes blood vessels in the brain to grow irregularly — every day can be terrifying.
"There's no treatment," says Dr. Christopher Austin, director of the National Center for Advancing Translational Sciences at the National Institutes of Health. "So you walk around all the time knowing that you have this time bomb in your head, that any moment you have a headache it could be a fatal bleed in your brain."
While seeking a treatment for cerebral cavernous malformation as part of his doctoral dissertation at the University of Utah, Dr. Chris Gibson arrived upon an idea. The lab in which he was working had spent roughly a decade seeking a drug to treat the rare disease, only to find in tests that it didn't work. "In the realm of rare diseases, the biology often isn't well understood," Gibson says. "So is there a better approach, one that is more agnostic to the biology we think we know and that embraces the complexity of the biology we don't understand?"
The idea gave birth to Recursion Pharmaceuticals, a Salt Lake City-based start-up tapping into advances in machine learning, computer vision and robotic automation to allow software to analyze hundreds of thousands of extremely detailed microscopic images of cells every week in search of treatments for hundreds of rare diseases simultaneously.
The notion of augmenting high-throughput drug research with powerful software is by no means entirely novel. But in just two years Recursion has managed to do so at unprecedented resolution, offering hope for millions of people suffering from rare diseases for which no treatment currently exists. The company's 40-person team has already identified more than a dozen promising treatments that are in various phases of testing, with one such treatment for CCM headed for clinical trials sometime later this year.