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.
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
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.
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.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
Antioxidant Enzymes Counter Reactive Oxygen Species From Steroidogenic Cytochrome P450 Enzymes In The Ovary To Limit Aneuploidy Of Embryos
Funder
National Health and Medical Research Council
Funding Amount
$536,978.00
Summary
Many birth defects are due to damage sustained by the eggs before ovulation. Aging allows more damage, hence the advice to have babies earlier in life. However, we believe we have identified a source of damage that happens during late development of the follicle in the weeks before ovulation. Proving this will enable us define when an egg is most at risk of damage and to devise strategies to lower the risk.
Investigating New Pathways In Acute Kidney Injury That Are Regulated By CD47
Funder
National Health and Medical Research Council
Funding Amount
$508,848.00
Summary
Acute kidney injury (AKI) is a widespread problem affecting both native and transplanted kidneys. Studies indicate that the incidence has increased more than 200-fold in the last decade, as has mortality. AKI also predisposes to the development of chronic kidney disease. There is no effective therapeutic for treatment or prevention of AKI. This project will investigate new cell signalling pathways regulating AKI with a view to developing these as novel clinical therapies.
Endosomal Reactive Oxygen Species In Tumour Angiogenesis
Funder
National Health and Medical Research Council
Funding Amount
$633,739.00
Summary
Cancer claims more lives worldwide than any other disease affecting millions of people annually. Tumours grow and spread in the body by acquiring their own blood vessels that provide them with nutrients and oxygen. We have identified a new protein called NADPH oxidase that promotes the development of these new blood vessels in tumours. We propose to test new drugs that block NADPH oxidase activity to stop the development of new blood vessels for the potential treatment of cancer
A New Strategy To Prevent Anthracycline-induced Cardiotoxicity While Improving Anti-cancer Activity
Funder
National Health and Medical Research Council
Funding Amount
$318,034.00
Summary
The anthracycline-based drugs such as doxorubicin currently used for cancer treatment have a major side effect in that they induce heart damage. We have shown that doxorubicin action can be modified to result in greater tumour cell kill, but also with reduced death of cardiac cells. We now aim to develop a molecular understanding of this process in order to allow better design of chemotherapy regimes that include the anthracyclines.