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.
Novel Genomic Approaches To Identify The Missing Genetics Underlying Skeletal Muscle Disease.
Funder
National Health and Medical Research Council
Funding Amount
$1,935,965.00
Summary
Skeletal muscle diseases can result in death in infancy or cause life-long and significant physical disability. Many families do not have a genetic explanation for their condition. We will use established and new technologies to find the missing genetics causing these devastating diseases. Our work has world-wide impact for the patients and families affected by these diseases.
Neuronal Genome Mosaicism: A Molecular Component Of Cognition?
Funder
National Health and Medical Research Council
Funding Amount
$687,975.00
Summary
The brain is a complex and dynamic organ tasked with interpreting and responding to the world around us. My recent work has shown that mobile genetic elements, or 'jumping genes', cause changes in the DNA of brain cells, potentially altering how they work. During the course of this fellowship, I will examine how and when during life these DNA changes occur, whether they play a role in memory formation, and whether they contribute to neurodevelopmental and mental health conditions.
For Every Question, There Is An Answer: Application Of Genomic Sequencing And Functional Genomics For Disease Gene Discovery In Children With Orphan Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$99,682.00
Summary
My PhD study will look closely at the genes in a family to see what is different and whether this difference is the cause of rare health problems. I will focus on children with highly unique conditions in which intellectual disability/developmental delay is a key feature. My study is important because if I can find the exact cause of rare genetic conditions, then I hope to improve the welfare of patients and families affected by these types of conditions.
Mechanistic And Functional Drivers Of Neochromosome Evolution
Funder
National Health and Medical Research Council
Funding Amount
$763,771.00
Summary
Neochromosomes are Frankenstein chromosomes--massive extra chromosomes that are stitched together from 100s of pieces of normal chromosomes. They are found in 3% of cancers, but are common in some types, such as liposarcoma. We have mapped their structure and found they form through punctuated chromosome shattering and gene amplification. We will investigate the precise molecular mechanisms that cause this and the recurrent transcriptional and epigenetic drivers lead to their formation.
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.
GENETIC AND FUNCTIONAL CHARACTERISATION OF ERAP1 VARIANTS ASSOCIATED WITH ANKYLOSING SPONDYLITIS.
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Ankylosing Spondylitis is a progressive arthritis which affects the back and causes the back joints to fuse. The project seeks to investigate the role of the ERAP1 protein and the gene which is the blueprint for the ERAP1 protein in causing Ankylosing Spondylitis. This will be through resequencing the gene, investigating the action of the different ERAP1 proteins and the effect of ERAP1 deficiency in mice.
Identifying Resistance Mechanisms Of Targeted BRAF Inhibitors In Metastatic Melanoma
Funder
National Health and Medical Research Council
Funding Amount
$379,015.00
Summary
Late-stage melanoma is an aggressive skin cancer for which traditional treatment strategies such as chemotherapy are ineffective. Recently, a new class of targeted drugs (BRAF inhibitors) has become the standard of care for a subset of melanoma patients; however, long term treatment success is complicated by drug resistance. This study will identify the causes of resistance with the purpose to improve targeted drug strategies and increase survival rates for late-stage melanoma patients.
Mechanisms Of Antibiotic-induced Persistent Bacterial Infection
Funder
National Health and Medical Research Council
Funding Amount
$632,048.00
Summary
Golden staph still causes significant human infections and resistance to antibiotics is an ever growing problem with this bacteria. This project will determine how resistance to some antibiotics is also changing the bacteria to promote persistent, difficult to treat infections. The insights from this study will help understand evolution of this bacteria, and help design new strategies for management.