The startup using AI to help build custom treatments for rare diseases

CNBC Cures is proudly underwritten by Alexion, AstraZeneca Rare Disease, whose support enables our journalism to elevate stories that advance research, innovation and patient care in rare diseases.

Jacalyn Lee first sensed something was off with her daughter, Isla, just before her first birthday.

“She was just under a year old, and nobody believed me, including the pediatrician,” she said.

Isla was missing some of the developmental milestones that her sisters had hit at her age. Doctors told Lee that her two other daughters were just advanced, and that she should not be measuring Isla’s development against theirs.

But by the time Isla was 15 months, Jacalyn had grown more insistent.

“I said to my husband, because I couldn’t go to the pediatrician appointment, ‘You do not leave that pediatrician appointment without getting some type of referral for an eval. Something is different, I’m telling you.'”

A few months later, Isla was diagnosed with autism. It wasn’t until her parents received the results of a genetic test when Isla was 3 years old that they realized the cause of her struggles. Isla was diagnosed with DEAF1-Associated Neurodevelopmental Disorder, or DAND — an ultra-rare group of genetic conditions characterized by developmental delays, intellectual disability, and autism. Only about 200 patients have been diagnosed with the disease worldwide.

“We were handed this diagnosis, and little else. There was no roadmap, barely any research, no community that I was aware of at the time,” Jacalyn said.

Lee, who works as a communications strategist, said she channeled her grief into action — gathering all the information she could about DAND while connecting with researchers and other parents of children with the same condition. She and four other mothers launched The DAND Alliance, a group that was able to raise money towards developing a treatment. But figuring out what to do next became more difficult.

For the five working moms, life had already become an unsustainable series of meetings with researchers. Lee said the group needed to find a partner who understood the work that they were doing, and knew how to help move the project forward.

“We were trying to figure out where should we spend money, knowing that we only have so much. But really we wanted this final document that was board-ready, that we could use to fundraise against, that we could use to operationalize against… almost like a pipeline with sequencing of, okay, you need A to get to B to get to C,” Lee said. “We still needed to kind of untangle and create a path forward that was easy to understand, easy to digest in terms of what we needed to…