When Jacalyn Lee’s daughter Isla was diagnosed with DEAF1-Associated Neurodevelopmental Disorder, or DAND, at age 3, the family was handed a diagnosis and little else. DAND is an ultra-rare group of genetic conditions affecting only about 200 patients worldwide, with no roadmap for treatment or community of support.
Lee, a communications strategist, channeled her frustration into action, co-founding The DAND Alliance with four other mothers. The group raised money toward developing a treatment, but quickly hit a wall: how to turn funds into a viable path forward. The volunteer-run organization needed expert guidance on where to invest limited resources, what studies to prioritize, and how to sequence the long journey from research to therapy.
That’s where Nome, a startup positioning itself as a contract research organization for small rare disease groups, stepped in. The company provided the DAND Alliance with a 53-page report outlining next steps, from animal studies to trial design. Lee said Nome’s founder and CEO, Stevie Ringel, understood the urgency and budget constraints of a new patient group.
“They helped us figure out what the gaps are, what work streams we need to prioritize, and even potential researchers or vendors that we need to think about engaging with,” Lee said.
Founded by a patient
Ringel’s own experience mirrors that of the families he serves. As a teenager, he and his sister were both diagnosed with a rare inherited retinal dystrophy caused by a KIZ gene mutation, a condition affecting fewer than 200 patients globally with no FDA-approved treatments. He launched the Kizuna Foundation to raise funds for an individualized treatment, but found the process slow, uncertain, and difficult to navigate.
“As a patient, it would have made a world of difference to me to hear, you know, actually there’s something we can do. It’s gonna be long and hard and potentially expensive, but there’s a pathway here that’s credible, here’s what it is, and here’s how you can take action — versus, sorry, go learn Braille,” Ringel said.
That experience inspired Nome, which Ringel describes as a “white glove service” for developing treatments for underserved patient populations. The goal is to make individualized therapies more affordable and attainable for small groups, potentially opening the door to insurance coverage one day.
How Nome works
Patients who receive a genetic test identifying a disorder can upload results to Nome’s system. The company’s proprietary AI platform — which Ringel says is more accurate than readily available consumer models — searches for potential treatment options and generates a free detailed report. A PhD reviews the findings before they’re sent to the patient, and the AI analysis takes about 10 minutes, versus dozens of hours manually, Ringel said.
Nome currently produces between 80 and 100 of these reports per month. Of roughly 5,000 cases reviewed to date, the company has identified a programmable medicine or existing custom therapy that fits the known mutation about 25% of the time.
The company makes money when clients hire it to design clinical trials or manage the drug development process through to delivery. Nome oversees a little more than 10 genetic medicine programs and partners with more than 80 drug development experts, including La Jolla Labs and Dyno Therapeutics.
AI is key to cutting costs
Ringel believes AI is central to making personalized medicine more accessible. About 25% of Nome’s work is automated, and he expects that figure to rise to 60%-80% within one to two years as its AI agents improve. In personalized medicine, human capital drives much of the cost. A customized antisense oligonucleotide (ASO) therapy can cost between $1.2 million and $1.4 million, according to Ringel.
“If we can bring the cost down by 50%, we hope we can create a pathway where insurance might even start to pay for them,” he said, citing CAR-T cancer therapies as a precedent — once considered too expensive for coverage, approved CAR-T treatments are now covered by most insurance plans.
Ringel acknowledges Nome is early-stage and faces skeptics who see it as an added layer of cost. But he insists his company saves patient groups money and time by playing quarterback.
“I don’t know how you can expect these families to move this process forward without someone playing quarterback,” he said. “We’re just trying to connect great science to the people that need it.”
Source: www.cnbc.com — https://www.cnbc.com/2026/08/18/the-startup-using-ai-to-help-build-custom-treatments-for-rare-diseases.html
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