AI Startup Helps Families Create Custom Rare Disease Cures

When Jacalyn Lee's daughter Isla was diagnosed with DAND, an ultra-rare genetic disorder affecting only 200 people worldwide, she received devastating news and almost nothing else. No treatment options existed. No clear path forward. Just a diagnosis and a wall of uncertainty.

Lee did what many determined parents do. She connected with other DAND families, launched The DAND Alliance, and raised funds for treatment research. But the five working mothers quickly hit another wall: they had no idea what to do next with the money they'd raised.

That's where Nome stepped in. The startup, founded by Stevie Ringel, acts as a guide for small patient groups navigating the complex world of drug development. Within weeks, Nome delivered a 53-page roadmap outlining everything from animal studies to clinical trial design at a fraction of typical industry costs.

Ringel built Nome because he needed it himself. As a teenager, he was diagnosed with a rare inherited eye disorder affecting fewer than 200 people globally. He raised funds through his own foundation but struggled with the overwhelming uncertainty of what came next.

"As a patient, it would have made a world of difference to me to hear, actually there's something we can do," Ringel said. "It's gonna be long and hard and potentially expensive, but there's a pathway here that's credible."

Nome now oversees more than 10 genetic medicine programs. The company uses AI to help identify potential treatments and create detailed development plans for diseases too rare to attract traditional pharmaceutical companies.

Why This Inspires

For decades, families with ultra-rare diseases faced an impossible choice: accept that no treatment exists or somehow become drug development experts overnight while caring for sick children. Nome is changing that equation by making expertise accessible and affordable.

The company represents a fundamental shift in how rare disease treatments get developed. Instead of waiting for big pharma to notice, patient families can now take action with professional guidance.

For Lee and The DAND Alliance, Nome's roadmap transformed uncertainty into concrete next steps. "They helped us figure out what the gaps are, what work streams we need to prioritize, and even potential researchers or vendors we need to engage with," she said.

Isla is now getting the chance her family fought for, and hundreds of other families are finding hope where none existed before.