Consultant in Clinical Genetics
BUILD (BAF complex & related genes underlying intellectual disability) is a study focused on understanding intellectual developmental disorders caused by mutations in genes that encode the BAF swi/snf chromatin remodelling complex and associated proteins.
Intellectual developmental disorders (IDD) are common, affecting up to 3% of all individuals. Hundreds of different genes have been associated with IDD. The BAF swi/snf complex is a large multiprotein complex involved in regulating the way our genome is made accessible to be expressed. Mutations in genes encoding several subunits of the complex are an important cause of IDD.
To understand these conditions better, we are looking to recruit patients with IDD with known mutations in BAF genes. This study will allow us to explore the differences and similarities between those genes and developmental and health problems, and to investigate the role of the complex in brain development.
Who can take part in the BUILD Study?
We are looking to recruit patients with intellectual developmental disorders who have mutations in genes of the BAF swi/snf chromatin remodeling complex. Several genes have been associated with IDD, for example: ARID1A, ARID1B, SMARCB1, SMARCA2, SMARCA4, SMARCE1, ACTL6A, ACTL6B, SMARCC1, DPF2, BCL11A.
What happens in the study?
After reading information provided by the regional genetics services and discussing the study with their clinical genetics team, participants and families will be given time to decide if they want to take part. If they consent to take part, affected individuals will be seen by a Clinical Geneticist and Clinical Psychologist. Most participants will be seen at the Somers Clinical Research Facility (CRF) at the Great Ormond Street Hospital for Children in London.
Samples (blood, saliva, hair) will be collected from the participant and family. Samples will be assigned an anonymous code before being sent to the lab at the Francis Crick Institute, where researchers will perform tests looking at how the gene mutation affects the function of the genetic code. Cells from the samples may be made into ‘cell lines’ (cells that can be grown and reproduced in the lab) for further tests.
The results of this study will be shared through publication of articles in scientific journals and scientific meetings. The results will be anonymous; no names of participants will be shared.
Who has reviewed the study?
The BUILD Study has been reviewed, with a favourable ethical opinion, by the NRES London - Camden & Kings Cross Research Ethics Committee - REC 17/LO/0981. All researchers have to show that they are respecting the laws and ethical guidelines that apply to biomedical research.
We are only recruiting patients through NHS Clinical Genetics services in England.
If you think that your child or relative might be suitable and would be interested in joining the BUILD study, please speak to your doctor or genetic counsellor at your Regional Clinical Genetics service.
If you are a clinician who has patients that you think would be eligible for this study and would like to find out more about about the BUILD study, please contact Dr. Cristina Dias at The Francis Crick Institute.
We also acknowledge support from: