Until recently, finding the genetic cause of neurodevelopmental disorders was usually difficult, expensive and time-consuming. The majority of individuals did not receive a diagnosis, and the cause of their lifelong differences 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 differences associated with each rare genetic diagnosis?
• How does each small genetic difference affect brain development?
• What can we learn about brain function and cognitive development by understanding neurodevelopmental difficulties caused by specific gene variants?

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, discovery of a link between ZDHHC9 mutation, epilepsy and language impairment, and investigating links between DDX3X variants and anxiety symptoms. 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.

 

Project links:

• BINGO

 

Information for families:

Information about SYT1-associated neurodevelopmental disorder

 

Programme team:

• Kate Baker (PLT)
• Andrea Santangelo (Post-doctoral research associate)
• Zhaotian Chi (PhD student)
• Jessica Martin (PhD student)
• Josefine Eck (Research Assistant)
• Tess Smith (Post-doctoral research associate)
• Eema Al-Jawahiri (Post-doctoral research associate)
• Rebeca Ianov-Vitanov (PhD student)
• Alice Smail (MPhil in Genomic Medicine,  2022-23)

 

Previous team members

• Diandra Brkic´ (Post-doctoral research associate)
• Anna Kolesnik-Taylor (Post-doctoral research associate)
• Elise Ng-Cordell (Research Assistant)
• Abinayah John (MPhil in Genomic Medicine, 2019-20)
• Sokahna Kong  (MPhil in Genomic Medicine, 2020-21)
• Emogene Shaw (MPhil in Genomic Medicine, 2020-21)

 

Programme blog:

The Baker Lab

 

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