Understanding Gene Regulation In Disease Using High Throughput Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
While genetics refers to the gene sequence, or DNA code, epigenetics refers to all the other factors that control how and when each gene is expressed. New technologies with the ability to sequencing billions of bases of DNA are now being used to study epigenetics. However the data sets are vast and complex. I use statistical and computational approaches in the emerging field of bioinformatics to make sense of this data and relate genome wide disruption of epigenetic marks to diseases.
Discovering The Cell Of Origin For Rare Ovarian Cancers
Funder
National Health and Medical Research Council
Funding Amount
$599,438.00
Summary
Ovarian cancer has many different varieties, and even though they all grow at the ovary, for some types we don't know the cell where the cancer starts. Using novel sequencing methods, this study will find the tissue of origin for two rare subtypes. This finding will help us to develop appropriate pre-clinical models that we can use to test emerging cancer therapies. Identifying the cell of origin will provide key insights into early detection or even prevention of these rare but deadly diseases.
Improving Bioinformatic Methods For Studying Gene Regulation In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$463,652.00
Summary
New methods for analysing genome-wide data will be developed to ease the data analysis bottleneck that currently exists in medical research. Modelling variation in gene expression from single cells, in screens designed to uncover gene function and assays that measure the factors that turn genes on or off will be the focus. Free software will be developed and made available to researchers worldwide to help them interpret the large and complex data sets that are now routine in genomic medicine.
Methods For Analysis Of Genome-wide Epigenetic Data In Cancer
Funder
National Health and Medical Research Council
Funding Amount
$279,838.00
Summary
While genetics refers to the gene sequence, or DNA code, epigenetics refers to all the other factors that control how and when each gene is expressed. Many studies have shown that epigenetic factors are disrupted in cancer. This study uses new high-throughput sequencing technologies to look at the changes in epigenetic marks that occur in prostate cancer. We will develop methods to integrate many layers of epigenetic data to determine how these changes regulate genes.
Investigating Widespread Regulation Of Gene Expression Through Intron Retention
Funder
National Health and Medical Research Council
Funding Amount
$363,026.00
Summary
We recently discovered a hidden type of gene regulation that appears to be altered in diverse cancers including leukaemia, melanoma and colon cancer. We will explore this widely relevant mechanism using molecular and computational tools. We created the only computer program able to detect this type of regulation and will now share our discovery with cancer scientists through cloud computing technology.
Molecular Mechanisms Of Inherited Cardiomyopathies
Funder
National Health and Medical Research Council
Funding Amount
$611,574.00
Summary
Heart failure due to disorders of the heart’s contraction and rhythm is a major health burden for our community. Two of the most common causes of heart failure are dilated cardiomyopathy (DCM) and atrial fibrillation (AF). The broad objective of DF’s research is identification of genetic variants that cause familial forms of DCM and AF, and elucidation of the pathophysiological effects of these variants. A better understanding of disease mechanisms will facilitate new approaches to diagnosis, tr ....Heart failure due to disorders of the heart’s contraction and rhythm is a major health burden for our community. Two of the most common causes of heart failure are dilated cardiomyopathy (DCM) and atrial fibrillation (AF). The broad objective of DF’s research is identification of genetic variants that cause familial forms of DCM and AF, and elucidation of the pathophysiological effects of these variants. A better understanding of disease mechanisms will facilitate new approaches to diagnosis, treatment and prevention.Read moreRead less
Improving The Genetic Diagnosis Of Neuromuscular Disorders
Funder
National Health and Medical Research Council
Funding Amount
$338,836.00
Summary
Neuromuscular disorders involve progressive muscle weakness where currently there are no effective specific treatments, and only a diagnostic rate of ~60%; thus emphasising the great need for research into gene discovery and disease mechanisms. The use of genomics technologies can increase the diagnosis rate but challenges still remain. This project aims to address these challenges by developing tools and workflows to improve the diagnostic rate of neuromuscular diseases.
Gene Identification For Keratoconus - A Blinding Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$912,880.00
Summary
Keratoconus is a common eye disease where the cornea at the front of the eye progressively becomes thinner and bulges out, resulting in severe visual impairment in young people. This project is investigating the genetic causes of keratoconus in a large collection of Australian patients. We aim to be better able to predict who will develop the disease and treat them earlier, as well as be able to target treatments to the causes of disease.