Investigating the role of large structural variation in MND by analysis of whole-genome sequencing data

Gene mutations are the only proven cause of MND. However, 40% of familial MND still carry unknown gene mutations. Most genetic risk factors that underlie sporadic MND also remain to be identified. Structural changes in DNA are known to cause other neurological diseases but these changes are yet to be widely studied in MND. This project aims to identify structural and copy number variants in MND patients using cutting-edge analysis of whole-genome sequencing data. Structural and copy number variants that cause or increase risk to MND will facilitate genetic testing (including PGD in families) and provide targets for potential therapies.