Yasmina Kattou / Photo credit: COLLANGES / IMAGE POINT FR / BSIP VIA AFP
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08:02, February 29, 2024
While International Rare Disease Day takes place this Thursday, nearly 7,000 rare diseases have been identified in France. On the other hand, there are only treatments for 5% of them. But hope is reborn with the development of gene therapies, a means of treating both rare diseases and cancers.
This Thursday is International Rare Disease Day. We speak of a rare disease when there are fewer than 34,000 people affected in France. Not so rare therefore, since 3 million French people are affected and nearly 7,000 rare diseases have been identified in France. However, there are only treatments for 5% of them. But hope for a cure is growing with the rise of gene therapies. A way to treat both rare diseases and cancers.
30 treatments exist
These therapies are based on the introduction by injection of a gene into diseased cells, to repair the defective genes responsible for the disease. Before these therapies, rare diseases like cystic fibrosis or spinal muscular atrophy, which causes paralysis, were fatal. Today, the application of gene therapies extends from rare diseases to more widespread pathologies such as cancer, explains Serge Braun, scientific director of the AFM-Téléthon.
“Gene therapy is something that has infinite potential. I can take the example of a very rare disease, Lesch-Nyhan disease. There is a dopamine deficiency in this disease. And the therapy gene used for this disease, could also treat Parkinson’s disease, because it is characterized by a defect in the production of dopamine”, he explains to the microphone of Europe 1. Today, 30 treatments from the gene therapy exists. Half for rare diseases, the other half to treat certain cancers. But in total, 3,000 drugs from gene therapies are under development.