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.
Defining The Role Of Genetic Variants In Systemic Lupus Erythematosus: Copy Number Variants And Epigenetic Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$338,625.00
Summary
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease associated with increased risk of mortality, severely impacting the quality of life for those affected. A large number of genes have been implicated in SLE susceptibility, however we know little of the genetic mechanisms proceeding disease onset. This project uses state of the art technology to define the role of genetic variants in SLE susceptibility and identify their importance across patients of different ethnic backgrounds.
Schizophrenia Under The Genomic Lens: Next Generation Sequencing Of Western Australian Families With Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$991,659.00
Summary
We will perform whole genome sequencing of 376 members of 88 Western Australian families, including 113 individuals with a diagnosis of schizophrenia. We will use the sequence data to conduct a gene-cenric analysis of rare genomic variants likely to contribute to schizophrenia risk in these families.
Evaluating The Genetic Contribution To Rheumatic Heart Disease Pathogenesis In Australian Aboriginal And Torres Strait Islander Communities
Funder
National Health and Medical Research Council
Funding Amount
$1,782,074.00
Summary
Rheumatic heart disease is highly prevalent in Aboriginal people in Australia and leads to early cardiac disease. Despite decades of research, the underlying genetic mechanisms for why it occurs are not well understood. We are conducting a genetic study to better understand why some people are susceptible to RHD and others are not. The study will involve substantial Aboriginal leadership and consultation and will be a model for the conduct of genetic studies in Aboriginal populations.
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.
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.