Project MinE update: prestigious prize for innovation in ALS

MinE is an international project to trace the genetic causes of ALS, a deadly muscle nerve disease. SURF provides storage and analysis of the mountain of DNA that the project produces. In December 2020, a Project MinE meeting took place, online. One week later, the project was awarded the prestigious Healey Center International Prize For Innovation In ALS.

In total 52 researchers and representatives of ALS foundations from all over the world joined the Project MinE meeting on 4 December 2020. First a general update was given on recent and future sequencing batches, the number of data access requests that have been processed (>40), and the status of all different datafreezes that have been released and will be released soon. All seven working groups gave an update on their progress (phenotype data, gene burden testing, epigenetic data, infrastructure, structural variation and repeated elements, non-coding variation, and working with industry). A number of action points were agreed upon, including exploring sharing MinE data through the EGA webarchive where possible, releasing new datafreezes through databrowser.projectmine.com, and making an inventory of all informed consents among Project MinE partners to investigate if these are compatible with potential collaborations with industry, given the GDRP.

One week later, on Friday  December 11th, Project MinE was awarded the prestigious Healey Center International Prize For Innovation In ALS (https://www.massgeneral.org/neurology/als/news/2020-05-01-Healey-Innovation-Prize). The team was awarded the Healey Center Prize for Innovation for successfully sequencing the genomes of over 10,000 people and increasing our understanding of the genetic variations that alter the risk of ALS as well as other clinical aspects of the disease. The award text says: “The impact of this genome sequencing project has been tremendous as the genes that were identified from this effort are currently and actively used in diagnostic tests, gene therapy, and drug discovery efforts in the field.”