Genotype and Phenotype in Inherited Neurodegenerative Diseases

Study code

Lead researcher
Professor Patrick Chinnery

Study type
Samples and data

Institution or company
University of Cambridge

Researcher type

Speciality area
Neurological Disorders


The aim of this project is to measure the levels of various metabolites in the serum of mitochondrial disease patients, and compare these to the levels found in ‘healthy volunteers’ in the general population.

Serum samples are routinely collected from study participants, comprising the patient group. However, we do not routinely see healthy volunteers in clinic and are requesting access to these samples to act as a control group. This study focuses on the healthy control arm.

Participation: For this study we provided samples from 80 healthy volunteers from the BioResource.

Organisation: This study is organised by Professor Patrick Chinnery from the University of Cambridge.