Translation Of Genetic, Genomic And Transcriptomic Discoveries Into Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$638,517.00
Summary
This project will progress studies on genes affecting common diseases to clinical application. Specifically, I aim to (1) establish the basis for the association of the identified MS risk factors with MS susceptibility; (2) establish if the three MS blood immune types we have identified, which are tagged by MS susceptibility genes, and altered by MS therapy, predict clinical response to therapy; and (3) determine the effect of host genetic variation in response to therapy for HCV, HIV and flu.
I aim to decipher the role of heritable, genetic DNA variation in human neurological disease. I will use next generation genomics technologies together with sophisticated cellular models to address the important questions of the biology of epilepsy and intellectual disability in particular. I aim to develop a treatment for a specific type of epilepsy, which affects only girls from the age of 6 months. My ultimate goal is to improve the life of the patients and their relatives.
Personalised Genomics In Precision Medicine Of Psychotic Illness
Funder
National Health and Medical Research Council
Funding Amount
$631,370.00
Summary
This research program will utilise recent developments in genomic technology to make detailed high-resolution genetic maps of individuals with psychotic illness. Where conventional gene discovery approaches focus on differences at the population level this program will integrate the variation within individuals to determine the network architecture. This will be used to generate genetic profiles for personalised medicine and provide the basis for treatments that are tailored to individuals.
Determining The Causes And Consequences Of Epigenetic Remodelling In Cancer And Disease
Funder
National Health and Medical Research Council
Funding Amount
$863,413.00
Summary
The study of epigenetics and its role in gene control is proving to be the next major contributor to our future understanding and improvement of health outcomes. Professor Clark and her team are on a quest to unravel the secrets of human epigenome to help reduce the burden of human disease. Their research will help contribute to the discovery of genetic and epigenetic aberrations in cancer and other complex diseases with the development of new diagnostic tests and potential new epigenetic-based ....The study of epigenetics and its role in gene control is proving to be the next major contributor to our future understanding and improvement of health outcomes. Professor Clark and her team are on a quest to unravel the secrets of human epigenome to help reduce the burden of human disease. Their research will help contribute to the discovery of genetic and epigenetic aberrations in cancer and other complex diseases with the development of new diagnostic tests and potential new epigenetic-based therapies.Read moreRead less
Cancer is linked to mutations in a large variety of genes but how these changes impact on cell behaviour is often unknown. We are using functional genomics in zebrafish to identify genes that are essential for rapid rates of proliferation by intestinal epithelial cells. Seven genes have been cloned so far and our next task is to analyse, using mouse models and human cancer transcriptome analysis, whether any are indispensable for cancer growth and thereby present suitable targets for therapy.
Developmental Neurobiology Of Schizophrenia And Translation Into New Treatments
Funder
National Health and Medical Research Council
Funding Amount
$611,574.00
Summary
Our ultimate goal is to expand effective treatment options for people with schizophrenia particularly ones that can prevent schizophrenia from developing. The successful completion of this project will identify novel biological pathways by which schizophrenia develops and, importantly, will yield new molecular tools to personalise treatment of schizophrenia.
New genomic technologies are revolutionizing biological research. RNA-seq is a recently developed high-throughput sequencing technology that provides scientists with much more detail how genes are regulated and expressed than any earlier technology. New tools developed by Professor Gordon Smyth are allowing researchers to use RNA-Seq technology to more accurately determine which genes are genuinely changing in the development of cancers and in response to cancer treatments.
Understanding The Kidney: From Morphogenesis To Regeneration
Funder
National Health and Medical Research Council
Funding Amount
$850,346.00
Summary
In Australia, 11.3% of deaths are associated with chronic kidney disease with >$1 billion per annum spent on treating this condition. Kidney function throughout life depends upon what happened during your foetal development as all the functional units of the kidney are made prior to birth. In this project, we will use our understanding of normal kidney development to develop new regenerative approaches to the treatment of this condition.
Epilepsy is a very common and serious brain disorder. Epilepsy often includes other disabilities, reduction in quality of life and is associated with increased risk of early death. 30% of people with epilepsy are unable to gain control of their seizures with currently available medications. The genetic causes of the large majority of epilepsy cases have not yet been found. This project aims to identify new genetic causes of epilepsy and its related disorders.
The genetic material is packaged in the cell nucleus with histone proteins. Modifications of histones determine if a particular area of the genome is active or repressed. We are investigating the roles of a family of histone modifying proteins, the MYST proteins. Mutations in these proteins cause intellectual disability and cancer. The research program will provide knowledge that may become the basis for the development of drugs for the treatment of cancer and neurodegenerative disorders.