Novel Skeletal Muscle Enriched Genes In Muscle Biology And Disease
Funder
National Health and Medical Research Council
Funding Amount
$900,467.00
Summary
Each year hundreds of Australians are born with genetic muscle diseases, however, current methods fail to identify the causative disease gene in ~50% of patients. Here we will use expression patterns in skeletal muscle to prioritize novel candidate disease causing genes. We will functionally test the role of genes expressed in skeletal muscle cells using novel experimental assays. Uniquely, we will for the first time incorporate a novel class of gene (long non-coding RNAs) into our study.
Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
LINEs Of Mutagenesis, Selection And Evolution In Ovarian Cancer And Chemoresistance
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
L1 elements are powerful mutagens encoded within the human genome that becomes active in epithelial tumours. I will define the broad effects of L1 elements on the evolution of chemoresistance, focusing on ovarian cancer as a model system. Ovarian cancer is characterised by a poor 5 year survival rate of ~40% with most tumours developing resistance. Understanding the impacts of L1 on this evolution will inform the development and selection of more effective treatments for ovarian cancer.
Discovery And Characterisation Of Long Noncoding RNAs In Human Neurological Disorders
Funder
National Health and Medical Research Council
Funding Amount
$349,647.00
Summary
Numerous regions in our DNA influence how likely we are to develop various diseases, including brain disorders such as Autism and Schizophrenia. However, in many of these regions no genes have been found and they appear “empty”, making it difficult to uncover what’s triggering the disease. This project will use a powerful new technology to discover new genes hidden within these supposedly “empty” regions that are important in brain disorders and investigate how they contribute to disease.
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.
Control Of Genome Regulation And Its Role In Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Changes in DNA can lead to differences in susceptibility to developing many diseases. The most common mechanism by which this occurs is through changing when and in which tissues disease-relevant genes get translated into proteins. My research focuses on understanding how DNA changes result in altered gene expression and how this can affect disease susceptibility. This work requires the use of high performance computing and statistical analysis of large genome-scale datasets.
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.
Harnessing The Power Of Genomics To Understand Disease
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
The last 10 years have seen a revolution in our ability to sequence DNA and related molecules. This technological advancement has the potential to transform our knowledge of the mechanisms of development and disease. In order to harness the power of this technology, advances in analysis strategies and methods are critical to extract the important insights into these massive data sets. My research will lead the way in several major areas of bioinformatics research.
Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
Determining Shared Genetic Control Of RNA Transcription Across 45 Human Tissue Types
Funder
National Health and Medical Research Council
Funding Amount
$264,684.00
Summary
There is strong evidence that much of the genetic susceptibility to disease acts through altering way genes are turned into proteins via RNA transcripts. One important problem in using transcriptomic data to study diseases is that the genetic control of RNA transcription is known to vary between tissues. This study will use new methods and RNA data from 45 human tissues to show the degree of common genetic control for each RNA transcript between each pair of tissues.