Genotype and Phenotype in Inherited Neurodegenerative Diseases

Study code

Lead researcher
Patrick Chinnery

Study type
Participant re-contact

Institution or company
Cambridge University / Clinical Neurosciences, Addenbrooke's Hospital

Researcher type

Speciality area
Neurological Disorders, Infection

Recruitment Site


We will use your blood sample to study specific cells that are involved in the immune system, called white blood cells. We want to learn more about how these cells function at rest and how they function when they’re triggered by an immune stimulus. We are also interested to learn if these cells behave differently in people with inherited neurological disorders compared to people who do not have these disorders. We have already collected samples from a group of patients with a condition called ‘mitochondrial disease’, and we will use your sample as a comparison.

Patients with mitochondrial disease often get very sick when exposed to seemingly minor bacterial or viral infections, suggesting that their immune systems are compromised in some way. By studying the white blood cells of these patients and comparing them to those of healthy volunteers, we will hopefully identify a difference that will help us understand the immune system defects involved.