Professor Patrick Chinnery FRCP FMedSci

Interests

I am interested in the genetic basis of neurological disorders, and particularly mitochondrial diseases.

Mitochondria are the main source of energy within neurons and glia. Mutations in genes responsible for mitochondrial biogenesis are a major cause of human disease, affecting multiple organs including the brain. My laboratory research programme is based in the MRC Mitochondrial Biology Unit, and studies the mechanisms of mitochondrial disease in patients and model systems. Our aim is to understand why specific cell types are so vulnerable in mitochondrial diseases.

I have an active genomics programme identifying new disease genes and mechanisms in neurological disorders.

I also have an active clinical research programme developing new treatments for mitochondrial disorders.

Progressive accumulation of iron in the brain of a patients with neuroferritinopathy, an autosomal dominant disorder caused by the 460InsA mutation of the FTL gene
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Research Focus

Equipment

Cell culture

Genetics, whole genome sequencing, genome wide association