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
Epilepsy is a very common and serious brain disorder. Epilepsy often includes other disabilities, reduction in quality of life and is associated with increased risk of early death. 30% of people with epilepsy are unable to gain control of their seizures with currently available medications. The genetic causes of the large majority of epilepsy cases have not yet been found. This project aims to identify new genetic causes of epilepsy and its related disorders.
Defining Genomic Mechanisms Associated With Treatment Response, Drug Resistance And Early Blast Crisis In Chronic Myeloid Leukaemia
Funder
National Health and Medical Research Council
Funding Amount
$631,370.00
Summary
Chronic myeloid leukaemia is a fatal disease if untreated. Most patients now survive with new drugs, but some still rapidly die. I aim to understand these differences by investigating the genetic makeup of patients at diagnosis. Some may have gene mutations that prevent drugs from working effectively. Mutations will be detected using technology that can search more than 30,000 genes at the same time. This work could lead to improved survival for more patients by finding new targets for therapy.
Cancers arise as a result of the impairment of critical cellular processes following the mutation of important regulatory genes. I am a molecular biologist and I study how the proteins of the Bcl-2 family regulate apoptosis, a process of cell death essential to maintain homeostasis in multicellular organisms, with the aim of designing drugs to kill cancer cells selectively. I am also interested in discovering new genes involved in the development of cancer using new genomics technology.
Research Fellowship – Genetic Epidemiology Studies Of Hormonal Cancers To Inform Improved Healthcare
Funder
National Health and Medical Research Council
Funding Amount
$772,209.00
Summary
This study aims to identify genetic factors that influence the development of endometrial and other cancers, and to develop statistical and laboratory methods that can better determine if variation in a known cancer gene is disease-causing. The results will be used to identify and prioritise individuals at greatest risk of cancer for the most appropriate clinical management. Discovery of novel cancer genes will improve our understanding of disease development to develop future therapies.
Birth defects are present in 3% of live births and account for some of the 78% of fetuses lost before birth. The causes of these defects are largely unknown. Some are due to genetic factors, some to environmental stresses, and others to a combination of genetic and environmental influences on fetal development. This research aims to identify the genetic and environmental factors that cause birth defects with the anticipation that the occurrence of birth defects may be reduced.