Human Trisomy Project
Research type
Research Study
Full title
Mutational landscape and clonal dynamics in individuals with congenital or acquired aneuploidy
IRAS ID
325616
Contact name
Raheleh Rahbari
Contact email
Sponsor organisation
Wellcome Sanger Institute
Duration of Study in the UK
6 years, 0 months, 0 days
Research summary
This project aims to study the impact of abnormal numbers of chromosomes also known as aneuploidy on cell function. One of the hallmarks of cancer is chromosomal instability - including abnormal copies of chromosomes. However, the exact mechanisms that lead to chromosomal instability and cancer transformation are not fully explained. In this work, we plan to study the genomes of individuals who are born with an abnormal number of chromosomes such as Down syndrome (three copies of chromosome 21), to understand how their tissues adapt to accumulation of mutations during ageing compared to individuals without any abnormal copies of chromosomes. The outcome of this work will provide detailed information on the extent of mutations in diverse tissues in individuals with aneuploidy and potentially identify pathways that may lead to cancer transformation.
Specifically, we plan to collect a diverse range of samples from individuals with trisomies; Down syndrome, Edward syndrome and Patau syndrome. We will apply state-of-the-art laser capture microdissection coupled with low input DNA and RNA sequencing methods to Provide detailed information of the extent of mutations in diverse tissues in individuals with aneuploidy e.g. trisomies.
The outcomes of this study should reveal a fundamental step towards dissecting the role of chromosomal abnormalities in cancer and development, which is necessary to drive new research programmes into cancer prevention, screening and treatment in a robust and systematic manner.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
23/SW/0121
Date of REC Opinion
27 Oct 2023
REC opinion
Further Information Favourable Opinion