A summer of groundbreaking genetic discoveries in ALS

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It has been a summer of groundbreaking genetic discoveries in ALS! In July, the Les Turner ALS Research and Patient Center at Northwestern Medicine shared the news from the lab of Dr. Teepu Siddique of the discovery of a third gene mutation, TMEM230, shown to cause Parkinson’s Disease as published in Nature Genetics. This research has strong implications for ALS as the TMEM230 protein is also present in motor neurons. Now, we are thrilled to share that another gene responsible for ALS, NEK1, has been discovered by Project MinE researchers at University of Massachusetts, UMC Utrecht and others. NEK1 has been found in 3 percent of cases sampled in North America and Europe, as recently published in Nature Genetics. This new discovery will allow scientists to further research the disease as well as develop new therapies.

To read about the TMEM230 discovery, click here.
To read more about the NEK1 discovery, click here.