Identification Of The Molecular Hallmarks Of Naevi Progressing To Melanoma
Funder
National Health and Medical Research Council
Funding Amount
$314,644.00
Summary
Melanomas are amongst the most commonly occurring cancers in Australia with >136,000 people living with a previous melanoma diagnosis. One of the highest risk factors for developing melanoma is having a high number of moles (or naevi). It is therefore important to fully understand how and why naevi develop into melanoma. It is hoped that early detection markers will be identified which will help identify early melanomas and as such improve patient outcome.
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.
Resolving Human Immunodeficiency Virus (HIV) Transmission
Funder
National Health and Medical Research Council
Funding Amount
$745,213.00
Summary
To increase the breadth of HIV prevention strategies, it is imperative that we biologically understand how HIV enters our bodies. Through two unique clinical cohorts, we will determine why circumcision is protective and how a commonly acquired sexual transmitted infection (human papilloma virus) can increase HIV transmission.
Using Next-generation Sequencing Technology To Explore The Genetic Basis Of Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$278,463.00
Summary
This project will use powerful new DNA sequencing technologies to analyse the genes that underlie common diseases such as diabetes, arthritis and cancer in a large and diverse set of human DNA samples, and to find mutations in Australian patients suffering from rare genetic muscle disorders. This approach will provide novel information about the evolutionary origins and genetic basis of common disease and identify new genes that cause inherited muscle diseases.
Identification And Characterisation Of Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) And Related Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$376,640.00
Summary
Epilepsy affects approximately 2% of the population at some stage of their lives. We have recently identified two new genes involved in the development of a type of epilepsy known as ADNFLE. We aim to identify further epilepsy genes by sequencing ADNFLE patients who do not yet have identified mutations. We also aim to identify the genes interacting with the genes we have identified, increasing our understanding of the cellular networks involved in the development of epilepsy.
RNA viruses are one of the last frontiers for globally significant infections. There ability to rapidly hide from the host's immune response and cause additional infections has made the ability to make vaccines very difficult. By studying patients that naturally and rapidly clear multiple infections we have identified strategies to conquer these highly divergent viruses. We are currently dedicated to trying to understand how we can mold this knowledge into a protective vaccine.
Identification Of Risk Factors Associated With Exposure To Australian Bat Lyssavirus
Funder
National Health and Medical Research Council
Funding Amount
$230,344.00
Summary
Australia is one of the few countries in the world known to be free of rabies. A dramatic impact on this status occurred in 1996. A flying fox in northern NSW was found to be infected with a rabies-like virus. Within 16 weeks of this discovery the first human case occurred. A further human case has now been reported. The newly discovered virus, named Australian bat lyssavirus (ABL) was found to be closely related to, but distinguishable from, rabies virus. Rabies virus is responsible for thousan ....Australia is one of the few countries in the world known to be free of rabies. A dramatic impact on this status occurred in 1996. A flying fox in northern NSW was found to be infected with a rabies-like virus. Within 16 weeks of this discovery the first human case occurred. A further human case has now been reported. The newly discovered virus, named Australian bat lyssavirus (ABL) was found to be closely related to, but distinguishable from, rabies virus. Rabies virus is responsible for thousands of human infections each year, mainly in Asia and South Asia where it is endemic in urban dogs. In contrast, other rabies-like viruses have caused only a handful of human infections. Although the number of human cases of ABL is likely to remain low, each of the two known cases has aroused a great deal of public anxiety. The natural hosts appear to be various species of bats which collectively have a distribution along the entire northern and eastern coastlines. The number of potential exposures is therefore quite large and state health departments are devoting considerable resources to dealing with public concerns. This project will establish clearly defined risk factors for exposure to ABL and will allow health authorities to better manage expensive and limited vaccine and therapy resources.Read moreRead less
Analysis Of Circulating Tumour DNA For Mutational Characterisation And Tracking Disease Progression In Multiple Myeloma
Funder
National Health and Medical Research Council
Funding Amount
$908,676.00
Summary
Multiple myeloma is cancer of plasma cells in the bone marrow and presents at multiple sites with dissimilar genetic information (GI) across these sites. Invasive biopsies of multiple sites are required to determine the GI. Cancer cells shed small amounts of DNA into the blood stream and this circulating DNA (ctDNA) contains GI from multiple cancer sites. This project will evaluate the utility of ctDNA to determine GI and to predict treatment response in MM patients.
I am a molecular virologist, with clinical training as a physician and pathologist. My research interest is in the pathogenesis of viral diseases, particularly those due to human cytomegalovirus (CMV), and the prevention of the most common complications o
Massive Parallel Sequencing In The Genetics Of Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological m ....Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.Read moreRead less