Institute of Neuroscience

Staff Profile

Professor Robert Taylor

Professor of Mitochondrial Pathology


Roles and Responsibilities

Professor of Mitochondrial Pathology, Newcastle University

Head of Laboratory, Newcastle NHS Highly Specialised Mitochondrial Diagnostic Laboratory

Co-ordinating Consultant Clinical Scientist, UK NHS Highly Specialised Rare Mitochondrial Disease Service of Adults and Children

Scientific Director, Yorkshire and North East Genomic Laboratory Hub

Senior Tutor, Faculty MRes programmes


BSc (Hons) Biochemistry (Newcastle University)
PhD (Newcastle University) 

DSc (Newcastle University)



Fellow of the Royal College of Pathologists
British Society of Genetic Medicine
Society for the Study of Inborn Errors of Metabolism

British Inherited Metabolic Disease Group

American Society of Human Genetics

The Pathological Society of Great Britain and Ireland


Research Interests

The overall aim of my research is to use biochemical, molecular genetic and cell biological tools to diagnose and characterise the molecular pathology associated with human mitochondrial (both mtDNA-derived and Mendelian) disorders so as to understand disease mechanism and benefit patient care through the development of treatment and provision of accurate genetic advice.

This work is wide-ranging, encompassing projects aimed at:

1.        defining the prevalence, natural history and genotype:phenotype correlations associated mitochondrial disease

2.        improving the laboratory diagnosis and options for prenatal and preconceptional genetic screening

3.        documenting the neuropathological changes associated with mitochondrial genetic disease to delineate the molecular mechanisms leading to neuronal loss and neurological deficits in patients with mitochondrial disease

4.        using next generation sequencing strategies including whole exome and whole genome sequencing to identify novel disease genes associated with a range of mitochondrial oxidative phosphorylation defects (focusing primarly on mtDNA depletion syndromes, isolated complex I deficiency and generalised disorders of mitochondrial protein synthesis) with the broader aim of characterising the mechanisms which underlie post-transcriptional mitochondrial gene expression.


Uniquely positioned at the diagnostic-research interface, I work closely with all the Wellcome Centre PIs and collaborate extensively with a number of International clinical and basic scientists.



The Wellcome Trust

The Lily Foundation
Newcastle upon Tyne Hospitals NHS Foundation Trust
Department of Health


Postgraduate Teaching

M.Res. Mitochondrial Biology and Medicine (MMB8034) - Joint module leader
M.Res. Neuroscience; Scientific basis of neurological disorders (MMB8020)