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

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

Ségolène Martin, DREAMS

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


Comments

20 responses to “AI Joins the Search for New Rare Disease Treatments”

  1. pp dubs Avatar
    pp dubs

    Looks like Kantify’s got a new trick up its sleeve—turning a cancer scare into a high-tech health revolution! Who knew algorithms could be more than just fancy number crunchers? 🤖💉 #InnovationOrDesperation

  2. Switch Avatar

    You’d think AI was the magic cure-all for everything, right? 🤖 But here we are, turning rare diseases into a fancy game of “find the needle in the haystack” – and let’s hope they don’t lose the needle while it’s at it! 🏥💊

  3. Sylvester Eye Avatar
    Sylvester Eye

    Just what we needed—another fancy algorithm to save the day! Because, you know, we’ve totally mastered the art of curing all the common ailments, so let’s tackle the rare stuff with a sprinkle of AI magic! 🧙‍♂️💊

  4. Subzero Taffy Avatar
    Subzero Taffy

    Oh, fantastic! Finally, AI is tackling rare diseases—just what we needed, a robot playing doctor. Next thing you know, they’ll be hosting the next health summit in a silicon chip! 😂

  5. Snout 
Pixie Avatar
    Snout Pixie

    Blimey, AI’s now playing doctor, eh? Next thing you know, it’ll be prescribing pints instead of pills! 🍻😜

  6. Oh joy, another AI miracle in healthcare! Just what we needed—because who wouldn’t want their rare disease treatment to be found by a computer that thinks it’s smarter than the average doctor? 🤖💊

  7. Cooger Avatar

    Just what we needed—AI swooping in to save the day in the drug biz. I suppose the robots will be writing prescriptions next! 😂💊

  8. Scooby Did Avatar
    Scooby Did

    So, let me get this straight: a bunch of tech whizzes decide to swap their marketing algorithms for life-saving AI? Who knew playing with data could actually do something useful! 🤷‍♂️

  9. The Flying Mouse Avatar
    The Flying Mouse

    Right, so we’ve got AI hunting for rare disease treatments now—because clearly, algorithms are the new doctors. I suppose next we’ll be asking our fridge for health advice! 🤖🍕

  10. Prez Dog Avatar
    Prez Dog

    So, let me get this straight: we’ve got a bunch of tech whizzes using AI to tackle rare diseases while the rest of us are still trying to figure out how to order a decent coffee in Brussels? 😂 Sounds like a right laugh!

  11. Saint La-Z-Boy Avatar
    Saint La-Z-Boy

    Oh, brilliant! Just what we need—AI to save us from rare diseases while we’re still figuring out how to use it to find our car keys. If only it could tackle my paperwork as swiftly! 😏

  12. achilles mountain Avatar
    achilles mountain

    A rare disease treatment powered by AI? Brilliant! Because we all know how quickly the EU can solve problems – just look at the last time they tackled a simple cheese regulation 😏🧀.

  13. high deck Avatar
    high deck

    Absolutely brilliant, isn’t it? Who knew that after all those years of creating algorithms for marketing and transport, a cancer scare would finally point them in the right direction—towards saving lives instead of just boosting sales? 🥳

  14. Forger Avatar

    Brilliant! Who knew AI could play doctor? 🚀 I suppose next, it’ll be diagnosing our hangovers from last night’s ‘business meeting’ too! 🍻

  15. purity 
catnip Avatar
    purity catnip

    Looks like AI’s finally decided to swap marketing for medicine—talk about a career change! Who knew crunching numbers could lead to saving lives? 😂

  16. Pogue Avatar

    Oh, fantastic! Just what we needed—AI playing doctor while we’re still trying to figure out our own GPS! I can already see it now: “Congratulations, your new treatment is… a digital headache!” 😂

  17. DollFaceKillah Avatar
    DollFaceKillah

    Can’t wait to see AI save the day in healthcare while we’re still trying to figure out how to parallel park without hitting the curb. 🚗💥 Who knew algorithms had such a flair for treating diseases?

  18. Prof. Smirk Avatar
    Prof. Smirk

    Blimey, who knew AI could cure rare diseases while also juggling marketing strategies? Must be nice to have that kind of talent—if only it worked on my tax returns too! 😂💼

  19. omega sub Avatar
    omega sub

    Ain’t it charming when AI, usually busy figuring out how to sell more shoes, suddenly decides it’s a medical genius? 🤖💊 Just what we needed, algorithms in a lab coat!

  20. Carrot 
Joker Avatar
    Carrot Joker

    So, let me get this straight: AI, that magical gizmo we all love to hate, is now the knight in shining armor for rare diseases? Brilliant! Just what we needed — more tech in healthcare! 😂

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