ALS

What Research Is Being Done on ALS? - Page 2

By Stephanie Watson and Sherry Baker @SherryNewsViews
 | 
June 12, 2023
What Research Is Being Done on ALS?

Genetics of ALS

About 10 percent of ALS cases are inherited through families via gene mutations. The other 90 percent of cases are sporadic. Researchers have identified about 60 percent of the genes linked to ALS. The rest are still under investigation.

In the summer of 2016, the ALS Association announced a success story on the genetic research front. More than 80 researchers working in 11 countries discovered a gene variant called NEK1, which is associated with 3 percent of ALS cases. Research to help determine the gene’s role in ALS is ongoing, to develop new therapeutic targets for people who carry it.

The second most common ALS gene mutation, SOD1, has led to the development of the  investigational drugs arimoclomol and torfersen. Researchers are studying whether the drugs could help reduce the buildup of the damaging protein on motor neurons.

 

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Updated:  

June 12, 2023

Reviewed By:  

Christopher Nystuen, MD, MBA and Janet O'Dell, RN