Investigating the Role of Variants in TNF Signalling in Autoimmunity

Study code

Lead researcher
Dr Joanna Jones

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area
Neurological Disorders

Recruitment Site


Multiple sclerosis is an autoimmune disease in which the persons’ own immune system attacks their brain and spinal cord causing damage. It is the most common cause of disability in young adults in the Western World – in the UK alone, it is estimated that more than 126,000 individuals are living with the disease.  

Susceptibility to MS is partly dependent on an individual’s genetic background: first degree relatives of an individual with MS have a 10-fold higher risk, and this increases to 200-fold in identical twins.  So far genetic studies have identified more than 100 genes that are linked to an increased risk of MS. However how and why variants in these genes increase the risk of MS is not known. 

We (and others) have noticed that several of the genes linked to MS are involved in one particular cell signalling pathway (called the TNF-signalling pathway) – cells communicate with each other using chemical signals and these signals are “relayed” through a chain of chemical messengers within the responding cell. We now want to understand why changes in the “TNF relay system” increases the risk of MS. We also want to understand how current MS treatments affect this system.  

We are particularly interested in understanding how this system is affected by a drug called Alemtuzumab (also known as Lemtrada) as this is the most effective treatment of MS available to date.  

Participation: For this study we recruited 66 participants from the Cambridge BioResource. Visits took place at the Cambridge BioResource's clinical facility on the Cambridge Biomedical campus.

Organisation: This study is organised by Dr. Joanne Jones based at the Department of Clinical Neurosciences, Clifford Allbutt Building, Cambridge Biomedical Campus