Since its creation in 1987, the Telethon has mobilized considerable resources to finance research into rare diseases, contributing to major scientific advances. Two emblematic laboratories illustrate this mission: Généthon, pioneer in gene therapy, and I-STEM, specialist in rare genetic diseases using cellular medicine. Driven by innovation, researchers explore new approaches to often little-known and complex pathologies. “The majority of the 7,000 rare diseases still have no treatment” explains François Lamy, vice-president of AFM-Téléthon.
A treatment for Duchenne muscular dystrophy soon to be found by Généthon?
The case of eight-year-old Sacha illustrates the 40 years of research funded by the Telethon. Suffering from Duchenne muscular dystrophy, a serious degenerative genetic disease, he received an injection of a “drug candidate” in 2022 as part of a clinical protocol developed at Généthon. The treatment aims to replace or repair the defective gene responsible for the absence of dystrophin, a protein essential for muscle function. The treatment now allows Sacha to regain almost normal mobility, a progress considered unhoped for a few years ago. The research work of Généthon and I-Stem opens up perspectives for thousands of patients suffering from previously incurable genetic pathologies.
Also read: Living with Duchenne muscular dystrophy, “the fragile balance between combat and resilience”
But today, a tool is gradually establishing itself as an essential ally for research: artificial intelligence (AI). By making it possible to analyze immense quantities of data, make precise predictions and identify previously unsuspected therapeutic avenues, AI is revolutionizing the way scientists approach the research of rare diseases. François Lamy therefore insists on the central role of artificial intelligence, which he describes as a “key solution to accelerate research and enable drug development”.
Artificial intelligence arrives in laboratories
Artificial Intelligence comes to the I-STEM laboratory, which stands out for its innovative research on “genetic diseases and the development of models allowing us to study them” reveals the laboratory director, Xavier Nissan. Research primarily focuses on drug repurposing, a method of using already available treatments to treat rare diseases. This model allows “save precious time in the search for solutions for patients”.
This is done through tests carried out on patient muscle cells, with a clear objective: “find drugs that improve patients’ living conditions” like Margaux, affected by girdle myopathy. Aged 27, the young woman who continues to “trust science” was diagnosed late, at 18 years old. The disease is characterized by progressive degeneration of the pelvis and shoulder muscles leading to a progressive loss of motor skills in the upper and lower limbs. A pathology from which only around fifty people suffer in France and which requires “lots of rest” to the sick. So much so that Margaux was forced to abandon her studies in luxury hotels for an office job where “the physical load is less important”. AI is therefore an accelerator in research into the disease which could make it “lose the ability to walk” if a treatment is not found “in the coming years”.
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AI, saving time and prediction for I-Stem
Xavier Nissan reveals that “one of the great challenges of genetic medicine” lies in the fact that “several rare diseases share similar mechanisms”. The phenomenon therefore opens the door to common treatments “even if the genetic cause is different”. The role of artificial intelligence is therefore crucial in the laboratory approach since with it “we can predict which drugs might be effective for a given disease”says Xavier Nissan. A considerable time saving, especially since AI “learns from its mistakes so as not to repeat them, continually improving its prediction capabilities”.
“AI can now cut the time needed to develop a drug by three”explains Xavier Nissan. While it once took between 10 and 15 years for a treatment to reach the level of clinical trials, technological advances now make it possible to reduce this time to just “4 or 5 years” according to him. AI also offers the possibility of designing drug identification protocols without resorting to physical experiments, a step that can be accomplished by “one to two months, compared to several years previously”.
A research collaboration that goes beyond borders
Another notable advance is the use of “digital twins”computer models of neuromuscular diseases “to test drugs in a simulated environment” explains Xavier Nissan, who highlights an “impressive” time saving in research since the start of the use of artificial intelligence at I-Stem, in 2021. “Once we have these predictions, we can test them” on digital twins or during clinical trials.
But I-STEM research is not limited to national work. “Thanks to the Horizon Europe program, we have developed an international collaborative approach to expand our research”explains Xavier Nissan. This program allows I-STEM to work with scientific and medical partners across the European continent and find innovative solutions to rare diseases. How is it financed? A budget of nearly 8 million euros is allocated to the program and the AFM-Téléthon provides financial support to the tune of “more than a million euros to start our work”.
Also read: The Telethon raised nearly 93 million euros in 2023, a record since 2015
Researchers always at the heart of projects
Xavier Nissan reveals that AI is still in its infancy, in France at least, and that teams are already working on creating new algorithms. “In 20, 30 or 40 years, AI could further revolutionize our profession while we have a methodology applicable in perpetuity”. But François Lamy insists on an essential point: “artificial intelligence will not replace researchers”. “Without them, nothing works.” “They are the ones who imagine and implement the strategies necessary to go faster”. To put it another way, AI powers research, but humans remain its driving force.
