July 29, 2016.
The Ice Bucket Challenge, which widely animated social networks two years ago, has made it possible to advance research against amyotrophic lateral sclerosis. A new gene has been discovered in these patients and new treatments are being considered.
New treatments for ALS soon?
Everyone remembers the aptly named Ice bucket challenge, this challenge launched on social networks, which involved many volunteers throwing a bucket of ice water on their heads to finance the search for a cure for amyotrophic lateral sclerosis (ALS). ), otherwise known as Charcot’s disease. Two years ago, this viral operation raised $ 220 million. Today, these tons of ice cubes have borne fruit since, thanks to these funds, researchers have announced that they have identified a gene specific to this neurodegenerative disease.
It is thanks to a group of researchers from 11 different countries that research has been able to progress rapidly. They have set up a major genome sequencing operation for many people with ALS as well as their families. By cross-checking their data, they shed light on the role of a gene, called NEK1. This discovery is ” significant », Assures the American association ALS, which hopes that new treatments can be put in place.
30,000 carriers of Charcot disease in France
Understanding the role of this gene will indeed allow the development of new therapies, whose first clinical trials are awaited by patients and their families, who have long struggled to advance research.
Charcot’s disease attacks nerve cells in the brain and spinal cord. Most of the patients who are affected end their lives two to five years after diagnosis, completely paralyzed. According to current data, 10% of cases are genetic. One in 2,000 people are said to have ALS in Europe today, or 30,000 cases in France., which makes this pathology a so-called “orphan” disease.
Read also: Charcot’s disease: he travels 788 km in a wheelchair
