CURIOUS
Research type
Research Study
Full title
Investigation and Understanding of Copy Number Variants
IRAS ID
254545
Contact name
Emma Woodward
Contact email
Sponsor organisation
Manchester University NHS Foundation Trust
Duration of Study in the UK
4 years, 11 months, 31 days
Research summary
Individuals with learning difficulties / congenital abnormalities may have an underlying causative chromosomal abnormality known as a copy number variant (CNV). The CNVs identified may often involve large regions of DNA containing many genes and, whilst providing an overall explanation for the clinical features, what is not known is whether there may be health implications related to specific genes affected by the CNV. For many there may be no implications, whereas for others there may be health implications for which surveillance could be put in place.
Therefore there is a need for information so that we can stratify risk accurately to enable surveillance to be offered where there is found to be a health consequence, but not to cause unnecessary anxiety with a cost to the Health Service by offering surveillance where it is inappropriate to do so as there is no increased risk.
The aim of this study is to better to define the likelihood of an individual developing clinical features of disruption of a medically relevant gene where it as involved by a CNV. Eligible individuals will be those with a CNV involving genes of known or suspected clinical importance and their family members. Recruitment will be through genetics clinics. Participants will be asked to give their consent for access to records related to the medically relevant gene – registry, health and genetics laboratory investigations and also existing tissues and samples for possible further laboratory investigation related to the CNV or MRG.
REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
20/EE/0136
Date of REC Opinion
29 Jun 2020
REC opinion
Further Information Favourable Opinion