Nome is building an AI-powered drug development service for ultra-rare disease patients, and the people most desperate for answers are the ones being asked to navigate a maze of diagnosis, research gaps, and expensive treatment pipelines. The startup says it helps families identify potential treatments and map out a path from diagnosis to clinical development. That path runs through a system where only those with enough money, time, and access can keep moving.
Who Gets Left Waiting
Jacalyn Lee, founder of The DAND Alliance, said she first sensed something was off with her daughter, Isla, just before her first birthday. Lee said, "She was just under a year old, and nobody believed me, including the pediatrician." She said Isla was missing developmental milestones that her sisters had hit at her age, and doctors told her that her two other daughters were just advanced and that she should not be measuring Isla's development against theirs. By the time Isla was 15 months old, Lee said she had grown more insistent and told her husband, because she 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. When her parents got the results of a genetic test when Isla was 3 years old, they learned she had DEAF1-Associated Neurodevelopmental Disorder, or DAND, an ultra-rare group of genetic conditions characterized by developmental delays, intellectual disability and autism. Lee said only about 200 patients have been diagnosed with the disease worldwide. She said, "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."
That’s the real starting point here. Not a sleek platform. Not a miracle cure. A family gets a diagnosis and then gets dumped into scarcity.
What People Built on Their Own
Lee, who works as a communications strategist, said she channeled her grief into action, gathering information about DAND and connecting with researchers and other parents. She and four other mothers launched The DAND Alliance, which raised money toward developing a treatment. Lee said the group needed a partner who understood the work and knew how to help move the project forward.
She said, "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."
That’s mutual aid under pressure, though the pressure comes from a medical system and a research economy that leave families to assemble their own routes forward. The alliance raised money. The mothers did the organizing. The work started at the bottom, where it usually does.
The Concierge Layer
The group turned to Nome, which Ringel said is trying to position itself as a contract research organization, or CRO, dedicated to serving smaller rare disease groups that the pharma industry does not often cater to. Ringel said, "We act with patient-level urgency and are highly focused on providing a roadmap forward for an underserved part of the market."
In the case of The DAND Alliance, Nome provided a 53-page report detailing next steps and outlining everything from animal studies to trial design. Lee said, "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." She said Ringel delivered it within a timeframe and at a price point that surprised her.
Ringel said he understood the urgency because his own journey mirrors hers. As a teenager, Ringel and his sister were both diagnosed with a type of retinal dystrophy caused by a mutation of the KIZ gene, a rare inherited genetic eye disorder that impacts less than 200 patients globally. There are no FDA-approved treatment options. Ringel launched the Kizuna Foundation and raised money toward developing an individualized treatment, but the work and uncertainty were taxing.
He said he built Nome to be exactly what his own foundation needed, a service for small patient groups looking to develop personalized treatments and guidance after funds are raised but before significant capital is deployed. Ringel said, "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."
Automation, Cost, and Control
Ringel called Nome a "white glove service" for developing treatments for underserved patient populations and said, "People come to us one family at a time, or as a collection of families." The goal is to bring down the cost of individualized therapies and make them more attainable for smaller patient groups, maybe even one day providing a path for insurance to pay for them.
After a patient receives a genetic test that identifies a genetic disorder, they can upload the results into Nome's system. Nome uses an AI platform it built, which it says is more accurate than readily available consumer models, to search for potential treatment options and then provides a free detailed report. Ringel said, "We've built an AI system that can do that analysis in about 10 minutes. And we have a PhD in the loop on top of that before we send anything back to a patient. But it really allows us to give back that answer in a few minutes versus dozens of hours."
Ringel said Nome currently does between 80 and 100 of these reports per month. Of the roughly 5,000 cases Nome has looked at to date, he said the company has identified a programmable medicine or an existing custom medical therapy that fits the known mutation about 25% of the time. Nome makes money when customers hire it to help design clinical trials for those treatment options or to act as a project manager to usher the drug to the point where it can be built and delivered to patients.
Ringel said, "Once we tell you that it's possible, you contract with us to do all the actual hard work and heavy lifting, like a concierge drug developer working for you." Nome, which oversees a little more than 10 genetic medicine programs, uses AI models to help design trials and manage logistics. Ringel said about 25% of the work done at Nome is automated using its AI systems, and he believes that over the next one to two years the company can automate 60% to 80% of the process.
He said, "We know that a customized ASO is between $1.2 and $1.4 million." He added that if Nome can bring the cost down by 50%, it hopes to create a pathway where insurance might even start to pay for them. Ringel compared that to CAR-T cancer therapies, which were once seen as too expensive for insurance to pay for but are now covered by most public and private insurance plans.
Ringel acknowledged that Nome is very early and that there is still a long way to go before it can fully accomplish what he envisions. To skeptics who say Nome adds another layer of cost, he said he is trying to provide a service to patient groups that desperately need it. He said, "I don't know how you can expect these families to move this process forward without someone playing quarterback." He added, "We think we'll ultimately save these groups money, and we'll save them time." He said, "We call it drug development operations. We're just trying to connect great science to the people that need it."
Nome works with more than 80 partners, including La Jolla Labs and Dyno Therapeutics, for drug development expertise. Lee said, "I really believe that we are in this renaissance era of AI and gene therapy and patient advocacy." She also said, "A nurse at the doctor's office told us, 'the slow curve of progress is now a vertical line.' So I really try to hold onto that."
Lee said, "In a really acute time, where you just get this devastating diagnosis, and there's no roadmap, there's no cure that you know of, and there's barely any research out there, it's very isolating. And so, if you can have a service that will run through the possibilities...it can give you options."
CNBC said the report was underwritten by Alexion, AstraZeneca Rare Disease.