Exploring the relationship between genotype and cognitive phenotype
Research type
Research Study
Full title
An investigation into the relationship between genotype and cognitive phenotype
IRAS ID
217545
Contact name
Mark Mon-Williams
Contact email
Sponsor organisation
University of Leeds - Faculty Head of Research and Innovation Support
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
A number of individuals have small genetic differences that can affect their health and well-being. There is a growing interest in understanding how these genetic differences impact on the individual’s ability to move skilfully (their ‘motor skills’) and process, manipulate and store information (their ‘cognitive skills’).In the past, a number of children with small genetic differences would have been identified as having ‘learning difficulties’ though the cause of these difficulties would have been unknown.
Advances in medical science now mean that genetic differences are identified and diagnosed in children at an early stage in life. It is known that some of these differences affect physical health and some of the differences cause cognitive problems (and thereby increase the chances that the individual will have mental health problems). Nevertheless, there is a poor understanding of how specific genetic differences map to an individual’s cognitive and motor abilities.
The purpose of this research is to provide a detailed description of the cognitive and motor abilities associated with specific genetic differences. Copy Number Variants (CNVs) are a specific type of mutation that previous research suggests are particularly likely to play a role in creating variations in ability. Patients with CNVs have sub-microscopic genetic variations encompassing deletions and/or duplications of chromosomal material. In many cases the exact impact that a specific deletion or duplication will likely have on development is not yet well understood, thus undermining the effectiveness of genetic counselling.
This project proposes to investigate the phenotype of a diverse sample of CNV carriers, using a battery of standard clinical assessments which involve tasks assessing cognitive and motor abilities, and validated standardised questionnaires to assess behavioural symptoms. All instruments have been selected because they are well−established, and have demonstrated reliability and validity in other studies of children in the age and intellectual ability ranges of the proposed sample
REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
17/YH/0245
Date of REC Opinion
22 Sep 2017
REC opinion
Further Information Favourable Opinion