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Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.
The Identification Of New Epilepsy Genes By Whole Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$1,069,803.00
Summary
Epilepsy is a common brain disorder affecting approximately 50 million people worldwide. The most common type of epilepsy is known as focal epilepsy. Our group has recently shown the importance of genetic mutations as causes of focal epilepsy. Using modern genomic technologies we will identify new genes in focal epilepsy. We will make animal models of these genes to better understand the pathobiology of epilepsy so that new treatments can be developed for patients.
Using High-throughput Genomics To Reveal The Deleterious Genetic Changes That Underlie Paediatric Leukoencephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$1,003,712.00
Summary
There has been an explosion of high-throughput DNA sequencing technologies in the past five years, which have the potential to completely revolutionise medicine and scientific research. Here we present a series of studies showing the successful application of this technology to children with genetic disorders of the central nervous system. This proposal seeks to expand this study to a large cohort of similarly affected paediatric patients.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
Whole Genome Pharmacogenomics Study Of Susceptibility Of Birth Defects In Children Born To Mothers Taking Anti-Epileptic Drugs
Funder
National Health and Medical Research Council
Funding Amount
$663,160.00
Summary
This project will investigate for genes that determine why certain women have an increased risk of having a baby with a birth defect if they become pregnant while being treated with a medication for epilepsy. Subjects will be recruited from the Australian Pregnancy Register, the findings validated using subjects from the UK Epilepsy and Pregnancy Register. The study will comprehensively examine for both common and rare changes in genes across the entire human genome.
Cellular genomic approach to the pathogenesis of multiple sclerosis. This project compares the levels of gene usage in two important immune cell types between patients with multiple sclerosis and people who do not have the disease. It aims to identify the molecular basis for the disease, in order to identify new diagnostic, preventative and treatment options.
Using Next-generation Sequencing Technology To Identify Genetic Determinants Of Epilepsy And Sporadic Epilepsy Prognosis
Funder
National Health and Medical Research Council
Funding Amount
$322,282.00
Summary
Recent advances in high-throughput, next-generation, DNA sequencing allows biologists to simultaneously analyse the differences in thousands of different genes across affected and unaffected individuals. However, it produces an overwhelming amount of data and making sense of this deluge of data is a current challenge. Overcoming this challenge will enable scientific discoveries of pathogenic variants of disease, potentially providing an opportunity for targeted drug development.
Generating a targeted mutation resource in zebrafish. How do genes function to build organisms and how are they regulated to produce organs and tissues? Using a new technique to target specific genes in the genome of zebrafish, this project will determine how genes control formation of different tissues. The new gene "knockout" technology will fundamentally change our understanding of how genes work during development.
Genome-wide discovery of translation control mechanisms. This project aims to reveal currently unknown molecular details of protein synthesis, a step of gene expression that is central to all of life. To achieve this, innovative methods based on next-generation sequencing will be deployed in the yeast model organism. Yeasts are of importance as pathogens as well as in the food and biotechnology industry sector. Thus, new knowledge generated in this project will help solve problems of invasive pa ....Genome-wide discovery of translation control mechanisms. This project aims to reveal currently unknown molecular details of protein synthesis, a step of gene expression that is central to all of life. To achieve this, innovative methods based on next-generation sequencing will be deployed in the yeast model organism. Yeasts are of importance as pathogens as well as in the food and biotechnology industry sector. Thus, new knowledge generated in this project will help solve problems of invasive pathogenic behaviour and biomass production.Read moreRead less
The characterization of tiny Ribonucleic acids in animal epigenetics. Epigenetics, the inheritance of traits not encoded in deoxyribonucleic acid (DNA), is not well understood in animals. This project will investigate two classes of Ribonucleic acid (RNA) that may form part of an animal-specific epigenetic regulatory system. This study could revolutionize our understanding of animal genetics.