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Clinical, Genetic And Psychosocial Aspects Of Sudden Cardiac Death
Funder
National Health and Medical Research Council
Funding Amount
$433,423.00
Summary
Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes o ....Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes of life-saving ICD therapy.Read moreRead less
Electronic Portable Health File (PHF) To Promote Quality Of Care And Workflow Through Continuity Of Care
Funder
National Health and Medical Research Council
Funding Amount
$694,745.00
Summary
The medical of older individuals with chronicdiseases and with multiple doctors is complex and burdensome for the patient. We have done work where the patient is given charge of a portable personal health record that he-she can update as needed and care givers update at ofiice visits. The preliminary work is positive. Two types have been investigated, an electronic patient health file (on a data stick) and a wallet size booklet. Both have been found accceptable. The goal of this project is to se ....The medical of older individuals with chronicdiseases and with multiple doctors is complex and burdensome for the patient. We have done work where the patient is given charge of a portable personal health record that he-she can update as needed and care givers update at ofiice visits. The preliminary work is positive. Two types have been investigated, an electronic patient health file (on a data stick) and a wallet size booklet. Both have been found accceptable. The goal of this project is to see if short term acceptability and satisfaction will translate into later improved outcomes such as a reduced rate of hospitalizations.Read moreRead less
About 14,000 cases of bowel cancer occur annually in Australia despite the availability of life-saving screening. Most people do not receive recommended screening colonoscopy. We will look at why people at high-risk avoid screening and why people at average risk seek unnecessary screening. We will analyse family history and contacts with the healthcare system that impact screening decisions. We will determine the impact of screening on reducing the number of new cases and deaths.
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.
Improved And Automated Measures Of Breast Cancer Risk Based On Digital Mammography And Family History Data Collected By BreastScreen That Will Enable Tailored Screening For Breast Cancer
Funder
National Health and Medical Research Council
Funding Amount
$741,180.00
Summary
We will use mammograms and family history information collected by BreastScreen to update and improve our automated measures of mammographic density for the new era of digital mammograms. We will then develop a new risk prediction tool by combining the measure of mammographic density for digital mammograms with other risk factors so that information on risk can be given to women at the time of their scans. The results of this project will enable Australian women to receive tailored screening.
Serological Responses To Anal HPV Infection: Characterising The Natural History Of Anal HPV
Funder
National Health and Medical Research Council
Funding Amount
$220,506.00
Summary
Human papillomavirus (HPV) causes 90% of anal cancer. Anal cancer rates are 20-100 times higher in gay men than other men. The natural history of anal HPV infection and progression to cancer is not completely understood. This study measuring antibodies to HPV will be part of the ongoing Study of the Prevention of Anal Cancer. We aim to show 1) if infection provides any immunity, which will inform HPV vaccination of older gay men and 2) whether antibodies could be used as a marker of cancer risk.
Do Breast Cancer Risk Factors Differ According To Underlying Genetic Susceptibility? A Pooled Analysis Of Prospective Studies From The NCI Cancer Cohort Consortium
Funder
National Health and Medical Research Council
Funding Amount
$418,581.00
Summary
We propose to use data from 23 international prospective cohort studies in the Cancer Cohort Consortium organised by the US National Cancer Institute to evaluate gene environment interactions for women who are at increased genetic risk of breast cancer. Our ultimate goal is to enhance the performance of clinical prediction tools and to develop targeted evidence-based strategies to mitigate the high absolute risk of breast cancer for women at increased genetic risk of the disease.
Long Term Consequences Of Perturbing Early Embryo Development
Funder
National Health and Medical Research Council
Funding Amount
$549,515.00
Summary
Assisted reproductive techniques are normally considered safe, but there are increased risks for these newborns which may be caused by these procedures. We have developed mouse models that are sensitive to these effects and have used them to show that gene expression is altered in mice that develop from cultured embryos. Now we will use these models to work out how to reduce these effects and ensure the ongoing health of babies born with assisted reproduction.
Splice Correction As A Treatment For Rare Diseases
Funder
National Health and Medical Research Council
Funding Amount
$824,316.00
Summary
We propose that a strategy of bringing effective and personalised treatments to amenable patients with rare genetic diseases, though ambitious, is readily achievable and opportune. Importantly, a consensus approach will facilitate expediting potentially curative treatments for many patients with rare diseases that would be unlikely to be commercially viable if considered individually.
Metabolic And Molecular Basis Of Embryo Signalling
Funder
National Health and Medical Research Council
Funding Amount
$409,836.00
Summary
Cells in the body are powered by mitochondria that essentially generate the energy required for development. This grant will determine how the environment affects the mitochondria in the developing embryo and determine the impacts to the embryo and pregnancy if a mitochondria is partially shut down.