Hearing a diagnosis of a rare disease typically comes as a double blow: first, you’re sick, and second, there may be no suitable treatment for you.
This is what Healx is attempting to address: it seeks therapies in areas where traditional medicine has failed by utilizing AI for treatment. Its goal is to become effective in discovering treatments for rare diseases that have gone untreated for years.
Rare diseases are very uncommon, but collectively, they are everywhere. There are over 7,000 known rare diseases that are affecting an estimated 300 million people worldwide, with children making up 50% of those cases. Only about 10% of these conditions, which are associated with genetics, have a proven treatment.
The challenge is economic as much as scientific. Traditional drug development is expensive, slow, and risky. Pharmaceutical companies have been known to prioritize conditions with large patient populations so that their investment has a chance of paying off. Clinical data for rare diseases is limited, and research can be vague.
This presents a problem; the diseases that need to be researched and worked on get the least attention. Healx intends to use AI drug discovery to address these underserved cases and find a cure.
At first thought, the idea of discovering drugs by combining AI sounds too good to be true, like something out of Silicon Valley.
But Healx is intentional about what it plans to do. The combination will become a leading player in discovering treatments for rare diseases. Healx wants to leave a lasting impact to help millions of people.
Founded in Cambridge, UK, Healx started when Tim Guilliams, Ph.D., a biochemical engineer and entrepreneur, and David Brown, Ph.D., a veteran drug developer and co-inventor of Viagra, met Nick Sireau in 2014, who had set up a patient group to help find treatment for the extremely rare genetic disorder that affected his sons. Inspired by Nick, he became the driving force for the company.
Instead of developing new molecules, which is more expensive, Healx is focusing on finding new uses for existing drug compounds through advanced computational analysis.
The idea behind this is simple yet a genius one: if an already established drug “interacts” with a biological pathway, then maybe it may interact with another drug that may be part of a cure for a particular rare disease. This method is called drug repurposing.
What makes the company different is its speed and sophistication, which its algorithms use to search for the connections. Conventional repurposing requires manual literature review and an expert’s opinion; Healx does not. It bypasses this process by developing patterns and hypotheses that no person can see unaided.
In traditional pharmacy, discovering a new drug can take years and billions of dollars in research. Rare diseases suffer the most because investors do not believe it is worthwhile to invest so much money in something with such a slim chance of success.
Using AI to handle this process will save money and time because it can scan millions of data points at once. This method also makes it possible for multiple explorations of drugs for rare diseases at once, instead of the usual method of one disease, one target, and one drug. Increasing the chances of one or possibly more viable test drugs proving effective.
A company’s insight is only as meaningful as the impact it has on its patients. Healx’s research into using AI for treatment has progressed over time, going beyond simple prediction to clinical development.
HLX-1502, one of its most cutting-edge programs, may be able to treat neurofibromatosis type 1 (NF1), a rare genetic disorder that causes nerve sheath tumors and other complications. The United States Food and Drug Administration (FDA) approved Healx’s Investigational New Drug (IND) application, allowing the company to begin a Phase 2 clinical trial for HLX-1502, a significant milestone for an AI-powered biotech.
In 2025, Healx achieved a milestone by dosing the first person in a phase 2 clinical trial to test HLX-1502, an AI-identified drug for treating neurofibromatosis type 1. This rare genetic disease causes tumors to grow on nerve cells, which can cause severe pain, disfigurement, neurological damage, and an increased risk of cancer.
There are a few treatment options available, particularly for NF1 subtypes that do not respond well to therapies, forcing many desperate patients to rely on surgeries or drugs with serious side effects. The dosing is a big step toward determining whether HLX-1502 can address those unmet needs and provide a cure.
There are a couple of features that make Healx unique from the other companies in biotech, including:
Healx has already moved into clinical trials, while many AI drug companies are still in the discovery stage. A good illustration of this shift is the FDA’s approval of the Phase 2 trial for HLX-1502.
Healx depends on repurposing, and this strategy improves development, but it does more than that. Its AI frames new mechanisms of action and combinations that were not easy to find using normal methods.
Healx collaborates with patient charities and disease foundations, including patient insights into the discovery process and speeding up movement into trials. This integration of community perspective with AI analytics is a rare feat in biotech and gives relevance.
The addition of generative AI capabilities to Healx platforms has allowed for the exploration of complex biological interactions.
Atomico and R42 Group co-led the financing of this project, and together with investments from international funding, Healx can combine heavy capital backing with its own ambitions.
When it comes to treating rare diseases, time is of the essence. Not only for the sake of science, but also for the lives of those involved. Families may invest all of their funds in waiting years for treatments that will never be available. Healx and its AI are attempting to give these patients a glimmer of hope by reshaping the front end of drug discovery so that treatments with promise are identified and tested sooner, and after being validated by regulatory bodies, they can move on to clinical trials, and treatments can begin.
This is not a theoretical promise. There are reports of clinical trials’ successes, partnerships with established pharmaceutical companies, and a growing list of AI candidates.
Healx’s work does not remove the complexities of biology. Instead, it aligns human creativity with computational intelligence, which allows scientists to operate at an efficiency previously inconceivable.
Wrapping up, For patients with rare diseases, even the smallest of advances matters. A treatment that can improve their quality of life. Slow the disease down or addressing symptoms can be life-changing for them. Healx is increasing the likelihood of such advances by broadening the pool of possible treatments. It’s also encouraging the industry to see rare diseases as solvable problems with the right methods.
This perspective might influence funding priorities, research strategies, and regulatory approaches towards these “neglected” rare diseases over time. Healx does not promise cures or breakthroughs. It simply applies artificial intelligence to healthcare. Provide a practical way to close long-standing gaps in the treatment of rare diseases. As AI models evolve and biomedical data expands, the company’s application is likely to become more powerful. Whatever happens, the goal is the same: ensure that rare diseases are no longer overlooked.