Select Page
Home > New Gene Discovered that Contributes to ALS

New Gene Discovered that Contributes to ALS

by | Jul 25, 2016

$1 Million Grant from Ice Bucket Challenge Helped Spur Discovery

Today, researchers from Project MinE announced that they have identified a new gene NEK1 that ranks among the most common genes that contribute to ALS. The study revealed an association between mutations in the gene and ALS. The discovery of NEK1 gives scientists an exciting new target for drug development.

Approximately 10 percent of ALS cases are familial, meaning genes are inherited from a family member. The other 90 percent of ALS cases are sporadic, or without a family history. The NEK1 gene is present in approximately 3 percent of all ALS cases.

The NEK1 gene serves several roles in neurons, or brain cells, that have been found to contribute to ALS in some way. It helps maintain the shape of the neuron, as well as promotes transport of molecules within these cells. NEK1 also helps regulate the part of the cell that supplies energy to neurons and helps repair damaged DNA. Each of these cell functions represents a potential drug target for people with ALS.

The next steps after this discovery will be to understand the role of NEK1 in the ALS disease. Researchers funded by the ALS Association are already making steps toward this by developing novel NEK1 mouse models that will be shared with the entire ALS community. Sharing information is essential to drug discovery in that multiple researchers can all study NEK1 at the same time to uncover potential drug targets.

The discovery of NEK1 through Project MinE’s large, global collaborative effort is an example of how every drop adds up. The sophisticated gene analysis that led to this finding is only possible because of the large number of ALS samples collected and made available by researchers of Project MinE. In fact, this discovery was the largest-ever study of familial (inherited) ALS, a combined effort of over 80 researchers in 11 countries, including the U.S.

“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery,” Dr. Landers said. “It is a prime example of the success that can come from the combined efforts of so many people, all dedicated to finding the causes of ALS. This kind of collaborative study is, more and more, where the field is headed.”

In the wake of the ALS Ice Bucket Challenge in 2014, the ALS Association proudly contributed $1 million to Project MinE to help spur the U.S. arm of this global initiative, led by Dr. John Landers at the University of Massachusetts Medical School and Dr. Jonathan Glass at Emory University. The ALS Ice Bucket Challenge enabled the ALS Association to invest in Project MinE’s work to create large biorepositories to store ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result.

Project MinE was founded in 2011 by Robbert Jan Stuit and Bernard Muller, two men living with ALS. They saw an opportunity to expedite genetic understanding of the disease after a tour of a Research ALS Center in the Netherlands where thousands of DNA samples were stored and not being used because it was too expensive to do the researcher the Center wanted to do.

As of today, Project MinE has achieved 35 percent of its goal to sequence the genomes of 22,500 people – 12,000 people living with ALS and 7,500 people without the disease. It is the first and largest genome sequencing effort to date, involving 16 countries in collaborative effort to discover new genes. The concept behind Project MinE is simple: donations contribute directly to DNA sequencing. For example, a donation of $2,000 allows for one person’s whole genome to be sequenced.

This August, the ALS Association is seeking to raise awareness and funds to finish what the ALS Ice Bucket Challenge started in 2014: an end to ALS. The new campaign, called Every Drop Adds Up, pays homage to the ALS Ice Bucket Challenge, visually emphasizes the now iconic “bucket,” and builds on the idea that when people come together they can make big, impossible things happen. Visit to learn more.

How ALS Patients Can Help

Once you’ve been diagnosed with ALS, it’s easy to feel like you just don’t have many options, but there are ways you can make a difference.

How You Can Help People With ALS

We all have a part to play in the fight against ALS! Your generous support funds critical research for better treatments and a cure for this disease. Here are a few ways you can help: