Until recently, finding the genetic cause of ID was usually difficult, expensive and time-consuming. The majority of individuals with ID did not receive a diagnosis, and the cause of their lifelong impairments remained a mystery. With technological advances and major health service investment, genetic diagnosis is becoming the norm. However, finding a genetic diagnosis leads to new questions:

• What are the neurodevelopmental impairments associated with each rare cause of ID?
• How does each small genetic difference affect the brain leading to ID?
• What can we learn about normal brain function and cognitive development by understanding ID caused by specific gene mutations?

Our research focuses on genes known to directly influence synaptic function. We want to understand how alteration to key parameters of synaptic function, for example the timing of neurotransmitter release or trafficking of receptors at the post-synaptic density, constrain the emergence of cognitive abilities. Recent work has included characterisation of neurodevelopmental disorder caused by Synaptotagmin-1 mutation, and discovery of a link between ZDHHC9 mutation, epilepsy and language impairment. A key question is whether genes converging on similar aspects of neuronal biology (gene functional networks) lead to overlapping clinical problems. If so, this could lead to network-specific management strategies.

Programme team:

Kate Baker (PLT)

Diandra Brkic (Post-doctoral Research Associate, from October 2018)

Elise Ng-Cordell (Research Assistant, from October 2018)

Programme blog:

http://www.mrc-cbu.cam.ac.uk/?p=25616

Project links:

• BINGO
• IMAGINE

 

Information about genomic disorders and genetic testing:

• East Anglia Medical Genetics Service
• Unique
• https://www.rareconnect.org/en/communities
• Deciphering Developmental Disorders
• 100,000 Genomes