TUMS study - version 1.0
Research type
Research Study
Full title
Towards an Understanding of Multiple Sclerosis (TUMS)
IRAS ID
168222
Contact name
Stephen J Sawcer
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
9 years, 9 months, 1 days
Research summary
Through our study “the Genetic Analysis of Multiple Sclerosis” we have identified over 100 genetic variants that are associated with susceptibility to multiple sclerosis. Little is known about how these variants exert their effects on risks but evidence suggests that most do this by altering the expression of important genes in particular classes of white blood cells; the cells that make up the body’s immune system. In this study we will attempt to identify the relevant cell types and genes involved, and to understand the biological consequences that result from associated genetic variants. To do this we will analyse blood and cerebrospinal fluid (CSF) collected from volunteers, who will include patients with multiple sclerosis, healthy controls and patients with other diseases. In the laboratory we will test different classes of cells and in some cases even individual single cells. We will assess cell function and measure various chemicals especially those reflecting gene usage (gene expression), such as RNA and protein. These observations will be correlated with the genetic code (the DNA sequence) found in the donating participants.
The number of variants associated with susceptibility is expected to increase over the next few years and it is also anticipated that variants influencing the clinical course of the disease and its response to treatment will also emerge; the laboratory scope and focus of the project are thus expected to evolve over time. Exactly which genes will be the primary focus of analysis and which laboratory methods will be utilised will vary over the period of the study depending upon what knowledge emerges from on-going efforts, what resources are available and what information becomes available within the scientific community at large. Systematic whole genome analysis will be employed as well as gene specific focused efforts.REC name
South Central - Berkshire Research Ethics Committee
REC reference
15/SC/0087
Date of REC Opinion
26 Feb 2015
REC opinion
Favourable Opinion