28 Feb 2021

Genethon, a unique strike force against rare diseases

Illustration for article: Genethon, a unique strike force against rare diseases
On February 28, International Rare Disease Day will put the spotlight on the rare diseases community throughout the world. At this occasion, AFM-Telethon revisits thirty years of pioneering research and innovation carried out by its laboratory, Genethon, which has developed a high-level expertise in researching and developing preclinical and clinical gene therapy treatments for rare diseases.
The aim of International Rare Diseases Day is to raise the public and decision makers’ awareness about rare diseases and their impact on the daily life of those affected. It is an opportunity to look back at innovations developed by Genethon, a unique not-for-profit laboratory, research pioneer and leader in gene therapy for rare diseases. 
In 1990, only a few of us believed that gene therapy would give rise to treatments. People told us that it was too complicated, that it would never work. (…) Today we face new challenges as we seek to overcome the scientific and technological hurdles still linked to gene therapy. We have to design vectors that are more specific, develop approaches for injecting these treatments and continue to innovate to treat rare diseases, as well as those said to be ultra-rare, and that should not be neglected. These are challenges for which Genethon is once again on the front lines” said Frédéric Revah, CEO of Genethon.
Watch Frédéric Revah’s interview about Genethon:

Today, Genethon brings together 220 researchers and experts. A unique strike force against rare diseases: 10 products from its research or to which it has contributed are in clinical trial throughout the world for rare diseases in muscle, liver, blood, the immune system and vision. Eight others should enter clinical trials in the coming five years. 
A first gene therapy medication using technologies derived from its research received a marketing authorization in the United States, Europe and Japan for type 1 spinal muscular atrophy. The health authorities are currently evaluating a second medication for Leber Hereditary Optic Neuropathy, to which Genethon contributed in the initial R&D phases. A third medication for myotubular myopathy is reaching the end of clinical studies, with a view to submitting an application for a marketing authorization. Providing hope for patients and their families!