Genetic factors modulating the expression of mitochondrial disease

Year of award: 2013


  • Prof Patrick Chinnery

    University of Cambridge

Project summary

Professor Chinnery is a clinical neurologist with a specialist interest in inherited neurological diseases (neurogenetics). He studies the genetic and biochemical basis of inherited mitochondrial disorders based on one of the largest international cohorts of patients with these diseases. He has a major interest in understanding the relationship between genotype and phenotype, and particularly the basic mechanisms underpinning the inheritance of mitochondrial DNA mutations. He has also studied the role of common genetic variants of mitochondrial DNA in complex human traits, particularly Parkinson's disease. Professor Chinnery has an active translational research programme studying the natural history of mitochondrial diseases, and has conducted clinical trials to test the effects of new treatments for these disorders.