Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
A Worldwide Study Of Cancer Risk For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$710,761.00
Summary
People with the genetic Lynch syndrome are more likely to get cancer but we cannot accurately predict who will get cancer and when. Doctors need this information to improve cancer prevention. Large collaborative studies are needed for this research. We have agreement from the 115 researchers to combine, into a single resource, 8,863 family trees of Lynch syndrome. We will analyse this data to determine the risk of cancer and whether it differs by sex, age, or nationality.
A Functional Assay To Classify Genetic Variants In Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$368,195.00
Summary
At least one person in every 1000 is affected by Lynch syndrome, in which faulty DNA repair machinery causes high rates of cancer. People with Lynch syndrome can have their risk of cancer cut substantially with regular screening. However, we often struggle to understand whether people with 'non-standard' DNA sequences in particular genes actually have Lynch syndrome. This project develops a simple test that will tell clinicians whether a given sequence change relates to Lynch syndrome or not.
Expanding Diagnostic Approaches For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$1,269,355.00
Summary
Currently, there are ~1,000 families who have attended Family Cancer Clinics across Australia who have the hallmarks of having Lynch syndrome, a hereditary bowel cancer syndrome, but who have no gene defect identified, i.e. their cancer is unexplained. Clinicians are challenged by these “Lynch-like” patients as their family cancer risk is unknown. Our research has identified new gene defects in Lynch-like patients. Our aim is to optimise clinical testing approaches for Lynch-like patients.
Characterisation Of Two Novel Markers Of Osteosarcoma Metastasis As Potential Therapeutic Targets
Funder
National Health and Medical Research Council
Funding Amount
$624,500.00
Summary
Osteosarcoma (OS) is the most common bone tumour in children and adolescents. In spite of aggressive chemotherapy, OS tumours that metastasise to the lungs result in dismal long-term survivals of only 10-20%. For these patients, new treatment options are desperately needed. In this proposal we show compelling data identifying two new markers of OS metastasis. This research aims to validate the suitability of these novel markers as therapeutic targets to prevent OS metastasis.
Generating Evidence Of Reduced Rates Of Overweight/obesity In Children: Value Adding To Four Established Australasian Early Intervention Trials
Funder
National Health and Medical Research Council
Funding Amount
$193,758.00
Summary
Childhood obesity is a major health problem. Trials are now being done to see whether helping families when their baby is young will reduce the rate of overweight children. We will combine data from these trials (1800+ children) to see if the programs work. To get maximum information we need to combine the line-by-line raw data from each patient in each trial. This is called an individual patient data meta-analysis. It is the best method for finding reliable answers to important health issues.
Randomised Controlled Trial Of Surgical Skin Preparation For Prevention Of Superficial Wound Complications In Prosthetic Hip And Knee Replacement Surgery
Funder
National Health and Medical Research Council
Funding Amount
$403,128.00
Summary
The demand for prosthetic joint replacement surgery will double over the next decade. Complications involving the surgical wound are a devastating complication of this surgery. This randomised controlled trial aims to investigate whether skin cleansing prior to surgical incision with alcoholic iodine reduces the number of patients with superficial wound complications when compared to alcoholic chlorhexidine. The study will be performed in patients undergoing orthopaedic joint replacement surgery ....The demand for prosthetic joint replacement surgery will double over the next decade. Complications involving the surgical wound are a devastating complication of this surgery. This randomised controlled trial aims to investigate whether skin cleansing prior to surgical incision with alcoholic iodine reduces the number of patients with superficial wound complications when compared to alcoholic chlorhexidine. The study will be performed in patients undergoing orthopaedic joint replacement surgery: a high volume, high cost surgery.Read moreRead less
Strengthening The Evidence Foundation For Public Health Guidelines
Funder
National Health and Medical Research Council
Funding Amount
$987,647.00
Summary
Public health guidelines should be based on rigorous evidence. If underlying studies are not sound, guidelines will not be credible or implemented. Dietary guidelines have been criticized for being biased. Our group studies bias across the whole research process – from the questions asked to the final publication. This project will measure the influence of bias at all stages in nutrition research in order to improve the evaluation of this research and the evidence base for dietary guidance.
Identifying Glaucoma Risk Variants In The Norfolk Island Genetic Isolate
Funder
National Health and Medical Research Council
Funding Amount
$658,447.00
Summary
Primary open angle glaucoma is the most common form of glaucoma. In this project we will focus on the identification of functional genetic variants influencing development of this disorder, using a powerful whole exome sequencing approach in a large multigenerational pedigree from the Norfolk Island population isolate. The identification of genes influencing glaucoma development would provide invaluable clues to aid in defining the pathophysiology of this common disease.
Statistical Analysis Of An International 10 Year Prospective Family Study Of Gene-environment Interactions On Risk Of Female Breast Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$450,198.00
Summary
This study will provide new and credible information on how the effects of environmental and lifestyle factors on breast cancer risk depend on a woman's underlying genetic susceptibility using a large, international 10 year prospective family study.