Families and researchers are counting on you !

The genetic revolution 

Published at

From genome maps to the discovery of the genes responsible for diseases, an entire sector of world medicine has made a spectacular leap forward, thanks to the determination of AFM-Telethon families, and the momentum of the Telethon.  

The choice of genetics 

Since it was founded, the association does all it can to fight neuromuscular diseases, most of them of genetic origin. In 1986, during the second academic conference organized by AFM-Telethon, a young researcher announced that they had discovered the gene responsible for Duchenne muscular dystrophy, the most common neuromuscular disease in children.  

This important announcement pushed the association to place genetic research at the heart of its strategy. The first Telethon in 1987, and the following ones, gave it the resources to implement a strategy that would revolutionize world genetics.   

The human genome maps and accelerated discovery of genes

The early Telethons pushed the Association to decide to unlock the mysteries of genes by creating its own laboratory: Genethon. The laboratory used robotics and bioinformatics, techniques that were extremely innovative at the time, to accelerate the mapping of the human genome. Barely two years after its creation, the results were in.   

From 1992 to 1996, Genethon published the first maps of the human genome and made them available to the scientific research community. A succession of world firsts and the starting point for the decoding of the human genome in 2003.  

Thanks to the genome maps, the researchers at Genethon and the support of AFM-Telethon, the discovery of the genes responsible for genetic diseases accelerated. Genethon has been involved in the discovery of genes involved in several hundred diseases. 

A crucial first step towards producing a drug was achieved, paving the way for innovative therapies.  

A new medicine 

Thanks to the identification of the genes responsible for many genetic diseases, a new medicine was created. 

Patients have access to faster, more reliable and more accurate diagnosis, guaranteeing them better medical care, and improving their life expectancy and quality of life, Families have the opportunity of genetic counselling, prenatal and pre-implant diagnosis, allowing them to grow their families in full knowledge of the facts. A victory against the fatality of diseases that often strike families across generations.    

This genetic revolution is also a trigger for the development of innovative therapies, such as gene therapy or cell therapy.