Genome-wide Analysis Of Gene Coding Variants Increasing Risk Of Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$705,035.00
Summary
Developments in genomics provide tools to find genes linked to endometriosis risk. Functional variants in protein coding regions of genes are an important class of disease causing variant and these have not been systematically screened. This project aims to use new methods to survey >95% of low frequency protein coding changes to find functional variants in genes and help develop reliable disease biomarkers and effective preventative and therapeutic strategies for this important disease.
Identification Of Parkinson's Disease Genes In Queensland Families Showing Patterns Of Mendelian Inheritance.
Funder
National Health and Medical Research Council
Funding Amount
$466,759.00
Summary
In rare cases, Parkinson's disease can be inherited through the generations of a family and it is possible to identify genetic changes that lead to this type of disease. This project aims to use new genetic sequencing technologies in several Australian families with inherited PD to find new genes that cause disease. This research will not only help these families but will teach us more about the reasons brain cells degenerate in this condition and other similar age-related brain diseases.
Genome-wide Association Study (GWAS) For Juvenile-onset Myopia And Its Component Measures To Identify Molecular Pathways To Prevent Myopia
Funder
National Health and Medical Research Council
Funding Amount
$495,364.00
Summary
We will examine 2,000 young adults from the Western Australian Raine Cohort at the Lions Eye Institute / University of Western Australia. Ocular data will be collected relating to myopia (short-sightedness) and will be combined with extensive previous childhood and genetic research data collected on the Cohort, to investigate the genetic and environmental factors predisposing to myopia. This will assist in understanding the factors leading to myopia.
Axonal Fusion To Promote Nerve Repair: Molecules And Mechanisms.
Funder
National Health and Medical Research Council
Funding Amount
$456,189.00
Summary
Nerve injuries are in most cases untreatable, leaving patients with high level of disabilities for the rest of their life. Understanding the molecular mechanism regulating nerve regeneration is critical to develop new drugs and design innovative therapies. We discovered molecules that mediates axonal repair by favouring the stitching together of the two separated fragments of an axon. We aim to study how they functions to possibly exploit a similar mechanism of repair for human injuries.
Unravelling The Genetic Causes Of Bipolar Disorder: Lessons From Rare But Highly Penetrant Variants In Very Heritable Forms Of Illness
Funder
National Health and Medical Research Council
Funding Amount
$705,834.00
Summary
Bipolar disorder is a severe mood disorder affecting over 350,000 Australians, for which the causes remain largely unknown. This project will apply a powerful new technology, exome sequencing, to rare families with highly heritable forms of bipolar disorder to identify specific genetic factors which increase disease risk. A greater understanding of the genetic causes of this illness may eventually lead to improvements in diagnosis, treatment and quality of life of people suffering with this debi ....Bipolar disorder is a severe mood disorder affecting over 350,000 Australians, for which the causes remain largely unknown. This project will apply a powerful new technology, exome sequencing, to rare families with highly heritable forms of bipolar disorder to identify specific genetic factors which increase disease risk. A greater understanding of the genetic causes of this illness may eventually lead to improvements in diagnosis, treatment and quality of life of people suffering with this debilitating mental illness.Read moreRead less
Understanding Axonal Fusion: An Alternative Mechanism To Repair Injured Axons.
Funder
National Health and Medical Research Council
Funding Amount
$648,447.00
Summary
Being able to repair an injured nerve by stitching the two damages sections back together is an incredible challenge in neurosurgery, and a highly desired outcome for the surgeon as well as for the patient suffering a spinal cord or peripheral injury. We have discovered molecules that mediate nerve repair by favouring the reconnection of the two separated fragments. We will study how they function, and if they can be applied to repair injured mammalian neurons.
Identification And Study Of Novel Conserved Molecule With An Axonal Protective Function
Funder
National Health and Medical Research Council
Funding Amount
$625,005.00
Summary
Axonal degeneration is a common feature of a number of neurodegenerative conditions, such as motor neuron, Parkinson’s, Alzheimer’s and Huntington’s diseases. However, the genetic causes that regulate this biological event are poorly understood. We have identified a novel, conserved axonal protective molecule. We will study how it functions, and if it can be exploited to protect diseased neurons.
Role Of ABCA8 Transporter In Oligodendroglial Lipid Regulation And Multiple System Atrophy
Funder
National Health and Medical Research Council
Funding Amount
$651,516.00
Summary
Multiple system atrophy (MSA) is a rapid-onset brain disorder impacting on multiple functions of the body resulting in death. The cause of MSA is unknown and there is no cure. In MSA brains, the oligodendroglial cells are impaired and cannot properly make myelin (specialized lipid membrane), which is required for the proper functioning of the nerve cells in the brain. The aim of this project is to find out how changes in lipid in the brain impact on the MSA disease process.
Mutations In Ubiquitin Proteasome Pathway Genes As A Cause Of Frontotemporal Dementia And Motor Neuron Disease
Funder
National Health and Medical Research Council
Funding Amount
$639,860.00
Summary
This project aims to identify genes that are mutated in families affected with dementia and motor neuron disease, and to determine whether the same genes are responsible for disease in large collections of patients with similar disorders. Identifying these genes will reveal what biological processes can lead to brain and nerve cell degeneration, providing knowledge important for development of new treatments for the many people worldwide affected with these disorders.
Understanding The Role Of TDP-43 In Motor Neuron Disease.
Funder
National Health and Medical Research Council
Funding Amount
$654,091.00
Summary
Motor neuron disease (MND) is a fatal neurodegenerative disease with no cure. The cause of MND is poorly understood but new research has shown that defects in TDP-43, an RNA binding protein involved in gene regulation, can lead to the disease. This project is aimed at discovering the molecular mechanisms of TDP-43 function, which will improve the understanding of the disease and aid in the development of new therapies.