BUILD: BAF complex & related genes underlying intellectual disability
Research type
Research Study
Full title
BUILD study: Defining the clinical and molecular phenotypes associated with mutations in the BAF swi/snf complex genes underlying intellectual disability
IRAS ID
184620
Contact name
Cristina Dias
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Trust
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Intellectual disability (ID) is a common and yet poorly understood condition affecting many children and adults. In every 100 individuals, up to 3 have ID to varying degrees, which may or may not be accompanied by other physical and health challenges. Until recently, the cause of most patients’ ID remained unresolved. The use of new genetic technologies has significantly increased the number of genes known to cause ID, however exactly how genetic changes (mutations) lead to disability is unknown, nor why some patients are affected more severely than others.
A group of these genes, that we know work together in a complex within the cell (the BAF swi/snf complex), are a frequent cause of ID, often with distinctive physical features. This project will recruit individuals previously diagnosed with ID associated with genes that code for proteins in the BAF complex. Patients will be identified through their clinical geneticist. We will conduct a detailed clinical and laboratory examination of the patients. Medical records and history will be reviewed. We will analyse previously collected images (such as x-rays and brain scans) and compare these to unaffected individuals to further understand changes in brain development. Cells collected from the patients will also be used to establish a resource of cell lines for further experimental studies and for sharing with other researchers.This study will help us understand how different genes, and different changes in the genes (mutations) lead to varying features in affected individuals.
This study will help us understand the cause of these patients’ problems and inform about ID's natural history, providing the opportunity for improvement of patient care. It will also provide valuable insight into brain development and open doors to the possibility of future research into treatment.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
17/LO/0981
Date of REC Opinion
4 Jul 2017
REC opinion
Favourable Opinion