BINGO – Brain and Behaviour in Neurodevelopment Disorders of Genetic Origin
The BINGO study researchers are interested in the different ways that genes can affect brain and behaviour, and are seeking to understand the different problems that this can cause for individuals with intellectual disabilities (ID). They are looking at the scope of problems faced by children with changes in a specific set of genes commonly implicated in rare genetic disease.
IDFOW – Imprinting Disorders: Finding out why
This is a study about epigenetics and understanding the switches that regulate genes and turn them on and off. In this study the researchers are looking at the special group of genes called imprinted genes.
If the switch isn’t set properly people can develop certain medical problems particular disorders of growth and development. This study seeks to understand why epigenetic events occur in patients with Imprinting Disorders and develop robust tests for imprinting disorders for the NHS service.
Other studies we offer to patients:
- NIHR BioResource (recruiting to multiple project arms)
- Movement disorders in adults with 22q11 deletion syndrome (DiGeorge syndrome)
- Genes and the kidney in Tuberous Sclerosis
- Disorders of the RAS MAPK pathway
- LymRes – Analysis of genes and their functions in primary lymphoedema
- HumGenDis – Molecular pathology of human genetic disease
- Precision genetic counselling and reproduction (PREGCARE)
- A study of eye muscle disorder genes
- Genetic disorders of growth, development and the brain
- Genetic basis of craniofacial malformations
- The Type 1 IFNopathy study
- Splicing and disease study
- Phenotyping of rare overgrowth disorders study (POD Study)
- EDEN – Early development in Neurofibromatosis Type 1
- Genetic disorders of human neurological and immune function
- Spliceosomal disorders
Closed Studies
IMAGINE ID – Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment
IMAGINE ID was a research study that aimed to increase our understanding of learning and behavioural development in children and young people with rare genetic conditions.
If you were involved in the IMAGINE ID and would like to follow the progress of the study, you can add them on Facebook, search for Imagineid.study, or follow them on Twitter @imagineidnews for updates.
DDD – Deciphering Developmental Disorders
For families involved in the DDD study you can find information and updates on the study’s website https://www.ddduk.org/