AI Joins the Search for New Rare Disease Treatments

Belgian AI company Kantify was conducting business as usual until a cancer diagnosis led the team to rethink their direction. “We created algorithms for sectors like marketing or transport,” said Ségolène Martin, Kantify’s co-founder and CEO.

“These were complex projects unrelated to health, but they allowed us to develop deep expertise in AI.”

In 2017, Nik Subramanian, the company’s CTO, was diagnosed with sarcoma, a rare type of cancer that forms tumors in connective tissues such as bones, muscles, and blood vessels.

This experience prompted the company to shift its focus to health and explore the potential of AI to improve how new drugs for rare diseases are identified and tested.

“It changed our lives,” said Martin. “We are now fully focused on AI for human health and have developed a specialized technology for AI-based drug discovery.”

This expertise is now being fully utilized as part of a five-year EU-funded research initiative called DREAMS, which aims to improve treatments for a group of five rare neuromuscular disorders that progressively weaken muscle function.

Increasing the Odds for Patients

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We are now completely focused on AI for human health, and have developed a specialised technology for AI-based drug discovery.

Developing treatments for rare diseases remains one of the biggest challenges in modern medicine. The process is long, expensive, and uncertain, requiring years of research, regulatory approval, and clinical trials.

For pharmaceutical companies, the small number of patients often makes such investments difficult to justify. As a result, many conditions remain untreated.

Today, only around 5–6% of the estimated 7,000 to 10,000 rare diseases have an approved therapy, a gap highlighted as a global priority by organizations like the World Health Organization.

AI could change that. By rapidly analyzing vast datasets, AI can narrow down potential drug candidates early on and identify existing medicines that might be repurposed for rare conditions.

A Focus on Neuromuscular Disorders

Within DREAMS, researchers focus on five rare neuromuscular disorders, including Duchenne muscular dystrophy, which primarily affects young boys and causes muscle degeneration, and Emery–Dreifuss muscular dystrophy, which can cause severe heart issues.

Although these conditions differ in their genetic causes, they appear to share underlying mechanisms of action at the cellular level. By targeting these common pathways, researchers hope to develop treatments beneficial to several diseases at once, rather than tackling each one separately.

The team reprograms patient cells into induced pluripotent stem cells (iPSCs) – a type of master cell that can be turned into many other cell types – and then turns them into skeletal muscle tissue, allowing researchers to study the disease in a controlled setting.

By combining these lab models with AI, researchers can identify shared therapeutic targets across multiple conditions.

“This kind of research is crucial for patients and their families,” said Xavier Nissan, project coordinator of DREAMS and research director at French research institute I-Stem specializing in stem cell therapy and the treatment of monogenic diseases. 

“They are suffering and have to deal with their disease every day. They need technology like this.”

From Data to Potential Treatments

As well as identifying underlying disease processes, the DREAMS researchers use AI to analyze billions of new and existing drugs to predict which compounds are most likely to work.

“This is one of the ways in which AI can generate real societal value,” said Martin. “It can truly accelerate research and create impact in areas where progress has been slow.”

In the lab, the team tests a library of 2,700 EMA- and FDA-approved drugs to assess whether any could improve shared disease-related symptoms.

“In the lab, we test thousands of existing drugs on iPSC-derived muscle cells from patients with these