Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from af ....Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.Read moreRead less
Identification of causal variants for complex traits. The aim of this project is to identify causal variants for complex traits in cattle and humans. Although most important traits in agriculture, medicine and evolution are complex traits, very few of the genetic variants affecting these traits are known and this undermines our understanding of how genetic variants affect a trait and practical uses of this knowledge. Huge datasets of individuals with genome sequence and phenotypes and new statis ....Identification of causal variants for complex traits. The aim of this project is to identify causal variants for complex traits in cattle and humans. Although most important traits in agriculture, medicine and evolution are complex traits, very few of the genetic variants affecting these traits are known and this undermines our understanding of how genetic variants affect a trait and practical uses of this knowledge. Huge datasets of individuals with genome sequence and phenotypes and new statistical methods provide the opportunity to close this gap. The outcome will be identification of many genomic variants causing variation in complex traits. This will benefit scientific understanding of complex traits and the ability to predict traits for individuals from their genome sequence.Read moreRead less
Quantifying The Role Of Epigenetic Factors In Neurocognitive Outcomes: A Twin Study
Funder
National Health and Medical Research Council
Funding Amount
$1,516,790.00
Summary
We aim to identify the environmental factors in early life that contribute towards an individual brain development using MRI brain scans and related psychological skills measured in late childhood. We are using twins to better understand differences in their early life environments independent of genetics.
Targeting Tau Phosphorylation To Treat And Prevent Acquired Epilepsy, Neurodegeneration And Neuropsychiatric Disease Following A Brain Injury
Funder
National Health and Medical Research Council
Funding Amount
$524,820.00
Summary
This project will explore a new approach to the prevention and treatment of epilepsy and the associated mental health disorders following a brain injury. This involves inhibiting pathological forms of the Tau protein, which has been implicated in the development of epilepsy and neurodegeneration. The drug that will be tested in this study has already been demonstrated to be safe and well tolerated in humans, meaning that a positive result from these studies could be expediently translated into c ....This project will explore a new approach to the prevention and treatment of epilepsy and the associated mental health disorders following a brain injury. This involves inhibiting pathological forms of the Tau protein, which has been implicated in the development of epilepsy and neurodegeneration. The drug that will be tested in this study has already been demonstrated to be safe and well tolerated in humans, meaning that a positive result from these studies could be expediently translated into clinical studies.Read moreRead less
A Multi-cohort Investigation Of The Effects Of BDNF Val66Met On Tau, Neurodegeneration And Cognition In Preclinical Alzheimer’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$325,758.00
Summary
There are currently no disease modifying therapies for Alzheimer’s disease. We will elucidate the role of a genetic polymorphism that has previously been shown to exert neuroprotective effects on memory decline and brain volume loss associated with Alzheimer’s disease. By studying the role of this gene in multiple cohorts of individuals with varying degrees of Alzheimer’s disease risk, this study has high potential to uncover novel disease-modifying strategies for the treatment of the disease.
Characterisation Of Eurl, A Novel Gene Implicated In The Etiology Of Abnormal Brain Development And Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$597,541.00
Summary
Intellectual disability affects around one per cent of Australians, and can arise from genetic abnormalities during fetal life, such as through abnormal regulation of gene expression. We have identified a novel gene, known as eurl, which controls brain assembly as well as the ability of neurons to form functional connections within the brain. We will investigate how this novel gene controls brain development, and characterise eurl as a potential therapeutic target for learning and memory.
Enhancing Rehabilitation Services For Aboriginal Australians After Brain Injury: Healing Right Way
Funder
National Health and Medical Research Council
Funding Amount
$906,445.00
Summary
This project involves implementation of the first culturally secure intervention package for Aboriginal survivors of brain impairment in Australia. Stroke and traumatic brain injury occur significantly more frequently in Aboriginal populations, yet Aboriginal people are under-represented in rehabilitation programs. The project will improve accessibility to rehabilitation, improve health outcomes, and establish an economic model contributing to sustainability and planning of future services.
APLP2: A Neuroprotective Receptor For Acute Brain Injury
Funder
National Health and Medical Research Council
Funding Amount
$648,739.00
Summary
Traumatic brain injury (TBI) is the major cause of deaths in Australians under 45 years of age. We have shown that the amyloid precursor protein (APP) is protective in models of TBI. To understand how APP is neuroprotective we have isolated APP binding proteins and identified the amyloid precursor-like protein 2 (APLP2) molecule as a strong candidate for the APP-neuroprotective receptor. This grant will investigate the interaction between APP and APLP2 as a novel neuroprotective pathway in TBI.
Mechanisms Guiding Pathfinding And Positioning Of Cortical Interneurons
Funder
National Health and Medical Research Council
Funding Amount
$621,606.00
Summary
Brain disorders place an economic and social burden on Australia and the personal costs of these illnesses are immeasurable. Several brain abnormalities are caused from the failure of neurons to position themselves in the correct location when the brain develops. Our study aims to discover how neurons move and what factors influence this process. It provides an understanding of normal brain development, as well as providing insight into what may go wrong in the formation of brain diseases.