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Genomic Disorders and Cognitive Development
Kate’s research aims to fill the gap between genetic diagnosis and day-to-day problems for individuals with intellectual disability (ID). 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.
Information about genomic disorders and genetic testing:
BATHELT, J., ASTLE, D., BARNES, J., Raymond, L.F., & Baker, K. (2016) Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability, Neuroimage: Clinical, 12: 655-665 [Open Access]
ASTLE, D., Barnes, J.,m Nobre, K., Woolrich, M., Baker, K. (2016) Training working memory in childhood enhances coupling between fronto-parietal control network and task-related regions, Journal of Neuroscience, 36(34):9001-9011 [Open Access]
ASTLE, D.E., Barnes, J.J.M., Woolrich, M.W.., Baker, K. , Colclough, G.L. (2016) Electrophysiological measures of resting state functional connectivity and their relationship with working memory capacity in childhood, Developmental Science, 19(1), 19-31 [Open Access]
Baker, K. , Scerif, G., Astle, D.E., Fletcher, P.C., Raymond, F.L. (2015) Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study., Journal of Neurodevelopmental Disorders, 7(1), 8 [Open Access]
Baker, K. , ASTLE, D.E., Scerif, G., Barnes, J., Smith, J., Moffat, G., Gillard, J, Baldeweg, T., and Raymond, F.L (2015) Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations., Annals of Clinical and Translational Neurology, 2(5), 559-569 [Open Access]
ASTLE, D., Barnes, J.J., Baker, K. , Colclough, G.L., Woolrich, M.W. (2015) Cognitive training enhances intrinsic brain connectivity in childhood, Journal of Neuroscience, 35(16), 6277-6283 [Open Access]