Genetics Of Epilepsy: Completing Our Understanding
Funder
National Health and Medical Research Council
Funding Amount
$3,000,000.00
Summary
Finding genetic causes of epilepsies is vital for accurate diagnosis and family counseling, to optimize current treatments and to develop novel therapies. We will leverage our large collection of carefully evaluated Australian cases with international data sets, coordinated by Consortia that I chair, to develop a detailed understanding of the genetic causes of epilepsy. This will transform the use of genetics in the clinic, lead to better immediate treatment and aid in developing novel therapies
Circulating Tumour DNA As A Marker Of Complete Pathological Response And Long Term Outcome For Locally Advanced Rectal Cancer Treated With Pre-operative Chemoradiotherapy
Funder
National Health and Medical Research Council
Funding Amount
$613,183.00
Summary
Rectal cancers are often treated by chemoradiotherapy (CRT) followed by surgery which may result in long-term stoma. A significant proportion of these patients can achieve complete remission to CRT alone. This project will assess the accuracy of a promising blood marker (circulating tumour DNA) for predicting response to treatment in patients with rectal cancer undergoing CRT. If confirmed to be a reliable marker, this test could be used to select patients who may be able to avoid or delay surge ....Rectal cancers are often treated by chemoradiotherapy (CRT) followed by surgery which may result in long-term stoma. A significant proportion of these patients can achieve complete remission to CRT alone. This project will assess the accuracy of a promising blood marker (circulating tumour DNA) for predicting response to treatment in patients with rectal cancer undergoing CRT. If confirmed to be a reliable marker, this test could be used to select patients who may be able to avoid or delay surgery.Read moreRead less
Targeting Activated Platelets: A Novel Innovative Approach For The Sensitive Detection And Therapeutic Targeting Of Various Cancers And Their Metastases
Funder
National Health and Medical Research Council
Funding Amount
$948,447.00
Summary
Early detection and selective therapy is critical for the survival of patients with cancer. We have shown in pilot experiments that platelets accumulate at the site of tumours and thus provide the opportunity to diagnose and localise cancer and its metastases. Based on this and also newly developed biotechnological tools we aim to develop multiple innovative imaging technologies. Furthermore, we will develop novel tumour-targeted and thus tumour site-specific, side-effect poor cancer treatments.
A Novel One-step Approach In The Early Diagnosis Of Prostate Cancer
Funder
National Health and Medical Research Council
Funding Amount
$102,150.00
Summary
In order to avoid the invasiveness and imprecision of current prostate cancer detection, this programme is directed to developing a non-invasive and repeatable, accurate approach. This research project is designed to optimise retrieval of prostate cells from ejaculate and to compare two methods for profiling selected genetic changes to diagnose prostate cancer. The refinement of techniques, outlined in the application, is essential before proceeding to a clinical trial.
Viral infections that mothers catch during pregnancy still cause much illness in babies either in the womb, or after birth. One of these infections called CMV causes more babies to be born with malformation in Australia than any other infection, and is second only to cerebral palsy as a cause of serious problems in babies. Our studies are examining CMV in mothers and babies, leading to better diagnostic tests, researching use of existing and new antiviral drugs to reduce infection in these mothe ....Viral infections that mothers catch during pregnancy still cause much illness in babies either in the womb, or after birth. One of these infections called CMV causes more babies to be born with malformation in Australia than any other infection, and is second only to cerebral palsy as a cause of serious problems in babies. Our studies are examining CMV in mothers and babies, leading to better diagnostic tests, researching use of existing and new antiviral drugs to reduce infection in these mothers and babies.Read moreRead less
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
Genome-wide SNP Analysis Of Fibroblasts Juxtaposed Or Distant From Epithelial Breast And Ovarian Tumours
Funder
National Health and Medical Research Council
Funding Amount
$401,763.00
Summary
In the past it was believed that the driving factor in the process of cancer devlopment was the cancer tissue itself. More recently however, it has become clear that the process is far more complex and that many aspects of human biology can profoundly influence both an individuals presiposition to cancer and the severity of disease. Many laboratories, including our own, have shown that gene mutations frequently occur in cancer tissue but recent studies have suggested that the apparently normal t ....In the past it was believed that the driving factor in the process of cancer devlopment was the cancer tissue itself. More recently however, it has become clear that the process is far more complex and that many aspects of human biology can profoundly influence both an individuals presiposition to cancer and the severity of disease. Many laboratories, including our own, have shown that gene mutations frequently occur in cancer tissue but recent studies have suggested that the apparently normal tissue surrounding the cancer (often referred to stroma) may also contain mutations. This so called 'cancer associated stroma'(CAS) is also thought to harbour genetic mutations and some studies have shown that without these mutations the cancer cannot survive. At present we have only had glimpses of the genetic alterations that may occur in CAS and there is an urgent need to fully understand the interplay between CAS and frankly cancerous tissue. Our laboratory will utilise high density, genome-wide screening technologies to search for novel mutations in CAS from breast and ovarian cancers. A complete understanding of the role stroma plays in cancer development is likely to lead to novel ways of treating and preventing cancer. Consequently, the identification of the full repertoire of stroma-derived cancer promoting genes is emerging as one of the most important areas in cancer research. The identification of these genes could lead to the development of novel diagnostic markers for use in cancer detection, diagnosis and-or prognosis.Read moreRead less