Remember all those videos of people dumping a bucket of ice cold water over their head to raise awareness of ALS? The Ice Bucket Challenge was a phenomenon in the summer of 2014. Project MinE received a small part of the Ice Bucket Challenge donations worldwide and used it to set up the international genetics ALS research and find new ALS genes.
Project MinE was set up by Robbert Jan Stuit and Bernard Muller from the Netherlands who were both diagnosed with ALS within a few months of each other. The international project aims to understand the genetic basis of ALS and to ultimately find a cure for this devastating, fatal neuromuscular disease. ProjectMinE aims to analyse 22,500 DNA profiles using whole genome sequencing from Illumina.
Prof. Jan Veldink, Brain Center Rudolf Magnus, University Medical Center Utrecht, coordinates this worldwide research project. Veldink: “Project MinE is a unique project where international investigators truly collaborate, share their data, exchange expertise and have a common goal to understand the causes of ALS.”
Two new genes identified
In July this year, Project MinE researchers identified two new genes associated with the disease, C21orf2 and NEK1. Mutations in these new ALS genes present in both inherited and sporadic forms. This makes these genes extremely interesting for future studies to shed light on the mechanisms that lead to ALS. A better understanding of these mechanisms is needed to find therapeutic strategies.