Targeting Autism With Macrocephaly Using Mechanism Based Therapeutics
Funder
National Health and Medical Research Council
Funding Amount
$831,652.00
Summary
Autism affects a large number of children in our community and currently there is a lack of any medication to treat its core pathology. In this grant we will study the underlying biochemical changes in the brain that result in autism through the development of a new mouse model of the disorder. This mouse model will then be used test drugs to identify therapeutic targets for the treatment of autism.
Developmental Vitamin D-deficiency And Autism; Exploration Of Potential Mechanisms And Refining Phenotype In An Animal Model
Funder
National Health and Medical Research Council
Funding Amount
$442,249.00
Summary
We have now shown in a large cross-sectional study that low levels of vitamin D during gestation increase the incidence of autism in children. When we model this risk-relationship in animals we show changes in important developmental processes and behaviours previously linked to autism in children. We now want to understand both the exact downstream molecular pathways affected in the developing brain along with the precise brain structural and behavioural abnormalities produced in offspring.
Neurexin And Neuroligin: A Code For Synaptic Development
Funder
National Health and Medical Research Council
Funding Amount
$349,590.00
Summary
As soon as we are born, we interpret our world through our senses, learn new information and lay down memory. These processes require molecules that connect neurons together. Mutations in genes encoding these molecules result in incorrect wiring of the brain and lead to mental disorders such as autism and schizophrenia. Using simple insect models, our project aims to unravel the fundamental mechanisms of how these molecules function in the brain and how their interaction controls behaviour.
Professor Scheffer and her collaborators lead the world in the discovery of the genetic causes of epilepsy. She will continue to identify new and refine known epilepsy syndromes and develop the classification of the epilepsies. Together with molecular colleagues, she will continue to discover the underlying genes causing this debilitating disorder leading to novel insights into the neurobiology. Her work may lead to new treatments and improve outcomes for people for epilepsy.
Gene-environment Interactions And Synaptic Plasticity In The Developing And Dysfunctional Cerebral Cortex
Funder
National Health and Medical Research Council
Funding Amount
$526,026.00
Summary
The cerebral cortex contains many billions of neurons, which are interconnected by trillions of synapses, to form networks underlying our most complex brain functions. It is only after birth, with environmental stimulation, that diverse brain functions begin to emerge. We are interested in the mechanisms whereby the genetic programme regulating maturation of the cerebral cortex is sculpted by interaction with the environment, as well as ongoing gene-environment interactions and mechanisms of pla ....The cerebral cortex contains many billions of neurons, which are interconnected by trillions of synapses, to form networks underlying our most complex brain functions. It is only after birth, with environmental stimulation, that diverse brain functions begin to emerge. We are interested in the mechanisms whereby the genetic programme regulating maturation of the cerebral cortex is sculpted by interaction with the environment, as well as ongoing gene-environment interactions and mechanisms of plasticity in postnatal brain. Many brain disorders, including schizophrenia, autism, epilepsy, Alzheimer's and Huntington's disease, involve abnormal development or function of the cerebral cortex. Our group has recently demonstrated that onset and progression of Huntington's disease, previously considered the epitome of genetic determinism, can be modulated by environmental factors, suggesting that all brain disorders must involve gene-environment interactions. In this project we are focusing on a specific molecular pathway which processes information from the environment and induces experience-dependent changes in the structure and function of neurons in cerebral cortex. We know that the molecular pathway we are examining has been linked to schizophrenia, a disorder of brain development, and we are attempting to understand how disruption of these molecular pathways can lead to the abnormal brain development and plasticity seen in this disease. We hope to discover neurobiological mechanisms which provide integrative understanding at the level of molecules, networks of neurons, and behaviour, in mouse models of brain disorders with disruption of specific genes, receiving different types of environmental stimulation. Analysing normal mice in this project will also provide new information on mechanisms of plasticity in the healthy cerebral cortex, that may underlie higher brain functions such as learning, which occurs throughout postnatal life, and memory.Read moreRead less