Genetic Changes in Degenerative Disease
Research type
Research Study
Full title
Somatic Mutations in Degenerative Disease
IRAS ID
260437
Contact name
Iñigo Martincorena
Contact email
Sponsor organisation
Wellcome Sanger Institute
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
All cells of the human body continuously acquire mutations in their DNA. These are somatic mutations, and are not passed onto children. Using modern DNA sequencing technology we can detect somatic mutations present in single cells or small numbers of cells.
In this study we will use pre-collected excess tissue (healthy and diseased joints and associated tissues from across the body), blood samples and cell lines derived from the samples. It is not possible for us to collect this extensive range of samples ourselves. Therefore we are obtaining all samples types via clinical collaborators, Biobanks, commercial suppliers and diagnostic archives both in the UK and overseas. Samples may include tissue and/or blood and/or cell lines derived from the samples from the living and the deceased from healthy and diseased individuals.
In addition to developing our understanding of the ubiquitous and yet largely unknown process of somatic mutagenesis, this project will seek to advance our understanding of the effect of disease processes on somatic mutagenesis.This project aims to explore and describe the number and pattern of somatic mutations seen in normal and diseased connective tissue. Secondly this study will examine how different disease processes and treatments influence the number, type and pattern of accumulation of somatic mutations. It will reveal new findings which may contribute to our understanding of the molecular pathophysiology of diseases and may ultimately have implications for the diagnosis and treatment of patients with degenerative diseases. The aim of the study is to understand the genetic changes that take place in human joints throughout life and in the context of degenerative joint diseases.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
19/SW/0031
Date of REC Opinion
8 Feb 2019
REC opinion
Favourable Opinion