There has been an amazing amount of press about the new ALS genes C21orf2 and NEK1 that were found by researchers collaborating in Project MinE.
Next to the two new ALS genes the publications in Nature Genetics also give important insight in the genetic architecture of sporadic ALS. The researchers have shown that ALS in a patient is not the result of many small impact genes that interact, but rather from 1 or 2 very rare genes with big impact. In different groups of patients these might be different genes. The goal of Project MinE is to find all these rare (mutations in) genes that cause ALS. Each ALS gene that we find advances the research into therapies for ALS as it gives insight into the disease process and enables researchers to look into possible therapies.
In total Project MinE has now led to the discovery of 4 ALS genes:
Since the start of Project MinE in 2013 the speed of ALS genes discovery has dramatically increased. The very rich (whole genome sequenced) data of Project MinE has helped the international genetics research of ALS to proceed. The identification of these ALS genes helps researchers to study the disease process: Why do motor neurons die in ALS patients? The answer to this question will help researchers to find effective therapies for ALS/ MND.
Below we share some of the many news items on the new ALS genes NEK1 and C21orf2:
Interview with Kevin Kenna, lead author on the NEK1 paper
Video of interview with Prof. Ammar Al-Chalabi on BBC World News