research against rare diseases has never progressed as quickly as in recent years

The 37th edition of the Telethon starts on Friday… To make a donation this weekend for research against rare diseases, the number is always the same: 36 37.

Let’s go behind the scenes first. Every year, just before the Telethon, researchers organize a press conference. 10 years ago, these conferences were dull. We only talked about “tracks” of research. Sometimes parents of deceased or very seriously disabled children came to testify. But in recent years, everything has changed.

Last week, for example, at the press conference, Ibrahima, 2 and a half years old, suffered from severe spinal muscular atrophy at birth, was invited. A few years ago, he probably would have died before he was 2 years old. There, Ibrahima was able to receive a gene therapy injection right after his birth. As a result, during the press conference, he made a happy mess: he ran, he climbed the seats, and he mimed the tiger at the feet of the scientists who were explaining their work. The scene is representative of the Telethon: decades of research financed by the generosity of the French, and today some incredible scientific successes.

Replace a defective gene with a healthy gene

The work was tough, but Telethon enabled the upheaval of gene therapy. First, scientists had to identify all the genes in the human body. Then, in certain diseases, they succeeded in replacing the missing or defective gene with a healthy gene. Today, there are solutions for spinal muscular atrophy and myotubular myopathy. For Crigler Najjar, a liver disease where patients have yellow skin and must spend their nights under phototherapy (under blue light), five patients have already been treated and are doing well. A gene therapy trial has just started on limb-girdle myopathies. In total, 38 clinical trials are underway or planned, financed entirely or in part by the Telethon.

But the work of researchers remains colossal. There are 7,000 rare diseases affecting three million patients in France, and treatments for only 5% of them. Some diseases have a name but no therapeutic solution yet. While others don’t even have names yet, they haven’t been listed.