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