Every Sequence
By Bernard Muller
We know that 10 percent of ALS is familial, meaning it’s genetic. The other 90 percent of ALS cases are considered sporadic, or without a family history. However, it’s very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases.
In fact, researchers suspect many more, much rarer, genetic variants affect the risk for ALS and are awaiting discovery.
As an entrepreneur, and someone living with ALS, I saw an opportunity to expedite genetic understanding of the disease. On a tour of the Research ALS Center in the Netherlands with another person living with ALS, Robbert Jan Stuit, we saw a large refrigerator where over 5,000 samples of patient DNA were stored.
We were shocked to learn that the samples were just sitting there, not being used, because it was too expensive to do the kind of research they wanted to do.
That’s when Project MineE was born. Through this initiative, researchers will sequence the DNA of 15,000 people living with ALS along with 7,500 healthy people around the world. The work of Project MinE will let us know with high certainty the genetic causes of ALS. The resulting data will be available to scientists and companies globally, and will help researchers discover new pathways that can be targeted for drug development.
As our initiative was well underway, the ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world. Thankfully, The ALS Association brought Project MinE to the United States. This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS.
I’m pleased to share that ProjectMinE has identified a new gene, NEK1, that is now known as one of the most common contributors of ALS and gives scientists an exciting new target for drug development. Hopefully, we will have our first drug on the market within the next two to three years.
My curiosity led to the inception of Project MinE. But the collaboration of researchers from all over the world, along with your support, is making my dream a reality.
Every gene sequence adds up to a better understanding of ALS.
That’s why it’s critical that we continue to donate to support research aimed at accelerating drug development toward effective treatments and the cure.
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