The Role Of The Neuronal Splicing Factor A2BP1 In Autism Spectrum Disorders
Funder
National Health and Medical Research Council
Funding Amount
$396,412.00
Summary
Autism spectrum disorders (ASD) are characterized by language deficits, social impairments and repetitive-restrictive behaviors. ASD is one of the most highly heritable neuropsychiatric conditions, and at the same time genetically very heterogeneous. We have recently shown that shared gene expression abnormalities can be identified in postmortem brain from ASD patients. We now propose to investigate the mechanisms and functional consequences of gene expression abnormalities in ASD.
The Role Of The Mammalian Grainyhead-like Gene Family In Neural Tube Closure
Funder
National Health and Medical Research Council
Funding Amount
$635,547.00
Summary
Failure of the skin to close over the brain and spinal cord during human development results in the devastating congenital birth defects anencephaly and spina bifida, known collectively as the neural tube defects. These are the second most common congenital birth defects affecting 1:1000 pregnancies. Our laboratories have identified a family of genes essential for the closure of the neural tube in mammals. The aim of this proposal is to understand the mechanisms of action of these genes with a v ....Failure of the skin to close over the brain and spinal cord during human development results in the devastating congenital birth defects anencephaly and spina bifida, known collectively as the neural tube defects. These are the second most common congenital birth defects affecting 1:1000 pregnancies. Our laboratories have identified a family of genes essential for the closure of the neural tube in mammals. The aim of this proposal is to understand the mechanisms of action of these genes with a view to developing new preventative therapeutics.Read moreRead less
Role Of Chromatin Structure In The Regulation Of Stem Cell Function
Funder
National Health and Medical Research Council
Funding Amount
$272,036.00
Summary
The aim of this project is to understand more about the nature of stem cells. Stem cells are cells which have the capacity to proliferate indefinitely but, at the same time, retain the capacity to differentiate into one or more cell types. Lower animals, such as amphibians, have a much greater capacity than humans to regenerate body parts. For example, axolotls can regenerate an entire limb if one limb is injured. This is because they retain undifferentiated stem cells in their limbs which can b ....The aim of this project is to understand more about the nature of stem cells. Stem cells are cells which have the capacity to proliferate indefinitely but, at the same time, retain the capacity to differentiate into one or more cell types. Lower animals, such as amphibians, have a much greater capacity than humans to regenerate body parts. For example, axolotls can regenerate an entire limb if one limb is injured. This is because they retain undifferentiated stem cells in their limbs which can be reactivated in the event of injury. Interestingly the adult human brain contains a small population of stem cells. The aim of this project is to find out more about how these cells remain undifferentiated and what is it about them which allows them to form different cell types. If more is known about these cells maybe in the future it will be possible to stimulate them to repair damaged parts of the nervous system. It may also be possible to treat people suffering from diseases like Alzheimer's disease, Parkinson's disease or spinal injuries.Read moreRead less
Defining A Role For The STONED Proteins In The Synaptic Vesicle Cycle
Funder
National Health and Medical Research Council
Funding Amount
$301,527.00
Summary
Nerve cells communicate with each other by means of chemical neurotransmitters. The level of communication is strictly controlled, and changes in the level, either up or down, is known as synaptic plasticity. This plasticity is thought to underly changes in the brain that account for both long and short term memory. Uncontrolled alterations in plasticity can also induce abnormal brain function, resulting in neurological disorders. Changes in the release of neurotransmitter are regulated at the m ....Nerve cells communicate with each other by means of chemical neurotransmitters. The level of communication is strictly controlled, and changes in the level, either up or down, is known as synaptic plasticity. This plasticity is thought to underly changes in the brain that account for both long and short term memory. Uncontrolled alterations in plasticity can also induce abnormal brain function, resulting in neurological disorders. Changes in the release of neurotransmitter are regulated at the molecular level by unknown mechanisms, however the chemical neurotransmitters are enclosed in small vesicles and it is believed that the control of the release of these vesicles, and their recycling, are important components of this mechanism. We have identified a gene that encodes two novel proteins of neurotransmission. Mutations that alter these genes can result in either increased or decreased synaptic activity. By using a combination of genetic and molecular techniques we propose to investigate how one of these two proteins operate to alter synaptic activity, as well as attempting to show how it interacts with other components of the synaptic machinery.Read moreRead less