Researchers from Project MinE have identified new genetic abnormalities that play a role in the development of ALS. As a result, the proportion of patients for whom a genetic cause can be identified of the neuromuscular disease has increased from 20 to 25 percent. The discovery also improves understanding of the disease and may, in time, support the development of targeted treatments for a subset of patients.
Researchers from Project MinE have identified new genetic abnormalities that play a role in the development of ALS. As a result, the proportion of patients for whom a genetic cause can be identified of the neuromuscular disease has increased from 20 to 25 percent. The discovery also improves understanding of the disease and may, in time, support the development of targeted treatments for a subset of patients.
The findings were recently published in the scientific journal Nature Genetics and are part of the international research initiative Project MinE. You can view the article here: https://doi.org/10.1038/s41588-026-02535-9
“This discovery does not mean there will be a drug tomorrow, but it does give clear direction for follow-up research,” says Jan Veldink, professor of neurology and neurogenetics and principal investigator of Project MinE.
For the study, researchers analyzed the DNA of nearly 18,000 people with ALS and more than 200,000 individuals without the disease. They identified several genetic variants associated with an increased risk of ALS, including variants in the ARPP21 gene. These findings provide new leads for the development of treatments.