We play a key role in the 100,000 genomes project studying rare neurological disorders based on our track record of gene discovery in mitochondrial disorders, inherited ataxia, spastic paraplegia, movement disorders and neurodegenerative diseases.

Whole genome sequencing is revolutionising our capacity to diagnose rare neurological disorders, with the prospect of a comprehensive diagnosis for all families in the near future.  Working with the NIHR Translational BioResource, we are harnessing these advances to develop personalised treatments based on a precise genomic diagnosis, including small molecule and gene therapy approaches.  Using cell and animal models we are defining disease mechanisms, and working with the pharmaceutical industry to develop new therapies.