Fitzgerald Georgewill

• BSc (Hons) Biochemistry
• A novel cause of mitochondrial disease: investigating the mechanisms underlying mitochondrial gene expression

Mitochondrial disorders represent a genetically heterogeneous group of neurological disorders affecting adults and children. There are no curative treatments and so making a genetic diagnosis is of prime importance in helping families. Exome sequencing is revolutionising the diagnosis of mitochondrial disease, identifying new proteins which may play a role in mitochondrial gene expression. My project will investigate one such novel protein, seeking to understand its role in causing a biochemical defect when the gene is mutated. The overall aim of this research is to use the information gained by mechanistic studies to be able to develop treatments for patients.

Funding source: Wellcome Trust