Mother tech entrepreneur creating agentic AI for rare-disease households

A model of this story first appeared within the CNBC Cures publication. Click on right here to enroll.

When Nasha Fitter’s youngest daughter was recognized with FOXG1 syndrome in 2017, a uncommon genetic neurodevelopmental dysfunction, she confronted a problem that many within the uncommon illness group know sadly too effectively: little to no public details about the illness or learn how to navigate it.

“There was actually nothing being accomplished,” Fitter mentioned. “Simply getting day-to-day solutions to my questions and the problems I used to be dealing with was actually unsystematic and random … it was mainly going to Fb and hoping somebody would reply my query.”

Fitter was informed at the moment that there was no remedy for the syndrome, no analysis that was underway, and no actual roadmap for what may come subsequent for her daughter. To sort out that head on, she co-founded the FOXG1 Analysis Basis to work in direction of a treatment.

However Fitter, a expertise entrepreneur, additionally noticed a chance to advance how uncommon illness sufferers obtain care that might additionally speed up discovering cures.

Working with fellow expertise entrepreneur Farid Vij, the 2 launched Citizen Well being in 2023, aiming to construct what Vij calls an “AI advocate” for the uncommon illness group.

“The one largest factor you could have that may profit you if you’re a affected person with a uncommon illness is an advocate in your nook,” Vij mentioned.

Typically, because of the lack of know-how and sources accessible round particular uncommon illnesses, that obligation falls on a mother or father or a beloved one.

“Hundreds of households have a motive to not take no for a solution, so they may attempt to discover the subsequent physician, they may begin a basis, or they will attempt to turn into scientists themselves and construct gene remedy packages,” he mentioned. “However most individuals cannot afford to try this, or they do not know how to try this, and it is actually exhausting to democratize that.”

AI and LLMs are quickly altering the healthcare business, and extra folks at the moment are turning to those instruments for recommendation and steering relating to their well being, whether or not that is to raised perceive their situations and check outcomes, questions they need to be asking their physician or how they need to search remedy.

Vij mentioned this improvement has been nice for folks looking for out details about widespread situations and basic well being care. However for a lot of uncommon illness sufferers, “there’s been no analysis accomplished, there aren’t any authorized therapies, and even the highest professional has seen only some sufferers, so there’s nothing for the mannequin to attract from,” he mentioned. Finally, that is what causes many uncommon illness sufferers and their households to show to Fb and different teams the place they don’t seem to be even certain if the data they’re receiving is related.

That could be a downside that Citizen Well being is attempting to resolve, constructing one of many largest uncommon affected person information networks of its type. The AI-powered platform works with sufferers and uncommon illness advocacy teams to construct communities for various situations, utilizing medical data, genetic info and different patient-reported experiences to create a dataset that may be queried by those self same sufferers, their households or clinicians to search out solutions. Citizen Well being additionally collects and organizes information from consenting sufferers, offering entry to researchers in order that they will advance drug improvement and coverings with out placing additional burden on these uncommon illness communities.

So far, there are greater than 8,000 uncommon illness sufferers on the platform throughout greater than 350 illnesses, Citizen Well being mentioned. As well as, there are greater than 16 pharmaceutical corporations utilizing that information to advance therapies.

Utilizing Citizen Well being is free for sufferers, they usually can opt-in to having their information accessible to researchers – Vij mentioned 98.3% of sufferers select to share at present. If a researcher desires to entry that information for business functions, they pay Citizen Well being, which additionally shares a proportion of that with the affected person.

“We have been capable of scale back timelines to get these therapies to market the place they’re really constructed on what sufferers want by 30%-50%,” Vij mentioned. “That is our twin mission, to make use of this mixture information to assist sufferers day-to-day, after which on the opposite aspect use that very same information to drive analysis in order that we are able to get therapies to market quicker.”

The corporate has raised $44 million since its 2023 launch, together with a $30 million Collection A funding spherical in August 2025 led by 8VC. Different backers embrace Headline, Transformation Capital, and the Chan Zuckerberg Initiative.

Now, Citizen Well being is taking its platform a step additional, introducing agentic AI constructed particularly for uncommon illness sufferers, serving to them schedule appointments, navigate insurance coverage appeals, alerting them when one thing of their medical data warrants consideration, and connecting them with comparable sufferers and related medical trials.

“In uncommon illness, a mother or father will spend on common 53 hours every week taking care above and past the abnormal parenting that anybody may need to do,” Vij mentioned. “So, it is giving a number of these hours again, but in addition driving a lot better outcomes for sufferers since you’re studying from the collective knowledge of the group.”

Fitter, who not solely is the corporate’s chief enterprise officer however makes use of it to assist along with her daughter’s care, mentioned some of these instruments and entry might be vital for uncommon illness sufferers and their households combating discovering the suitable care or roadmap to comply with.

“It is a sport changer for the person affected person, getting higher care and making higher choices day-to-day,” she mentioned. “For our basis, if we did not have Citizen we’d not be dosing our first affected person this 12 months.”

Fitter mentioned within the case of her basis, the information from Citizen Well being helped steer the endpoint of its therapies from seizures to motion problems, a choice that was made after having the ability to analyze the medical information of different sufferers with FOXG1 syndrome. The muse not too long ago had its sort D assembly with the FDA and was allowed to make use of affected person pure historical past information based mostly on their medical data because the placebo management arm, which allowed it to skip a section three trial and a placebo, which Fitter mentioned saved about $80 million.

“The best accomplishment is that the subsequent affected person that’s simply getting recognized goes to have such a better life based mostly on the work that we have been capable of do,” she mentioned.