In this video Jan Veldink explains the uniqueness of Project MinE, the worldwide research for the genetic causes of sporadic as well as familial ALS. In Project MinE, research groups and ALS/ MND Foundations around the globe collaborate intensively.
Jan Veldink is professor of human neuro genetics at the University Medical Center Utrecht. He explains the goals and deliverables of project MinE. This project uses a combination of methods including GWAS, whole genome sequencing, and whole exome sequencing to find new ALS genes. He also describes how project MinE integrates methylation data with genomic data to develop a more complete picture of ALS.
The goal of project MinE
Almost 10,000 DNA profiles have been sequenced so far in project MinE. This is the largest whole genome sequencing dataset that has ever been available for ALS research! The end goal of all 17 countries partnering in Project MinE is to sequence 22.500 DNA samples and find the genetic causes of ALS/MND.
Deliverables achieved 2017
- Replication Site for the discovery of TUBA4A as an ALS associated gene (Neuron 2014, 84:324)
- Replication Site for the discovery of TBK1 as an ALS associated gene (Science 2015, 347:1436)
- Identification of C21orf2 as a new ALS gene (Nature Genetics 2016, 48:1043)
- Identification of NEK1 as a new ALS gene (Nature Genetics 2016, 48:1037)
- Shared genetic origin for ALS and schizophrenia
- Further unraveling of the ALS genetic architecture
- A new locus, more information will follow on www.projectmine.com
Project MinE respects the principles for FAIR data sharing. In the Project MinE databrowser you can find (anonymous) project MinE data on several genes. This is a great way to share data with other researchers and with research of other diseases.