Double Stranded RNA - The Common Pathogenic Agent In Expanded Repeat Genetically Inherited Neurodegenerative Diseases
Funder
National Health and Medical Research Council
Funding Amount
$605,096.00
Summary
At least twenty human genetic diseases are due to the expansion of existing repeat sequences beyond a common threshold copy number. While many of these diseases have a common mutation mechanism and share many clinical features the molecular steps critical to their pathogenesis are not yet understood. This project will test the hypothesis that expanded repeat containing RNA, specifically in its double-stranded form, is a common pathogenic agent in many of these diseases.
Identification Of Novel Genes Predisposing To Male Breast Cancer, Their Prevalence And Associated Cancer Risks.
Funder
National Health and Medical Research Council
Funding Amount
$210,284.00
Summary
Male breast cancer (MBC) is rare and understudied. Using the latest technology, this study will identify new genes which cause familial MBC to aid in the genetic counselling and risk assessment of an affected man and his family. The frequency of these novel genes, and all known breast cancer genes will be assessed in a second group of affected men as well as families with an increased female breast cancer risk. By better understanding the cause of MBC, we can improve its management.
High Resolution Genome-wide SNP Analysis Of Genetic Alterations In Early Ovarian Neoplasms
Funder
National Health and Medical Research Council
Funding Amount
$587,055.00
Summary
Ovarian cancer is the 5th leading cause of cancer death in women. For such a significant disease, remarkably little is know about its origins and this has limited progress in developing more effective diagnostic markers. We will undertake cutting edge genome-wide analysis of pre-invasive ovarian tumours to identify genetic markers relevant to malignancy. This work will significantly expand our understanding of how ovarian cancers develops.
Identification Of The Gene For A Novel Syndrome Of Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach (GAPPS)
Funder
National Health and Medical Research Council
Funding Amount
$378,152.00
Summary
We have identified a previous undescribed syndrome of multiple polyps in the stomach, and a tendency to develop stomach cancer. We are now want to identify the gene responsible, and to determine if it plays a part in the development of other cancers that occur outside people with this rare syndrome.