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Approved Research

Genome wide association study to identify modifiers of disease, age at onset and associated repeat expansion disorders of neurological diseases

Principal Investigator: Professor Henry Houlden
Approved Research ID: 60084
Approval date: May 28th 2021

Lay summary

Genome wide association study to identify modifiers of disease, age at onset and associated repeat expansion disorders of neurological diseases

Repeat expansions and are variants associated with repeat expansions are frequent cause of neurological disorders. In addition many genetic variants also modify neurological disorders; such as to delay onset or render a more severe form of the disease. We wish to use the UK Biobank data to understand the frequency of repeat expansion disorders, rare variants, variants that are associated with expansions and those that lead to or modify disease. This will be important to the UK population and provide important adjunct data to a number of research projects and PhD projects in the Neurogenetics lab and the MRC Centre for Neuromuscular disorders at UCL.