Coordination Of The Fanconi Anemia Pathway To Maintain Genome Stability
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Fanconi anaemia is a heritable disorder where bone marrow failure occurs on average at age seven and is the major cause of death at around age 20. Many patients also develop leukaemia, representing another overwhelming hurdle in their youth. The incorrect function of any one of 19 proteins can lead to Fanconi anaemia. We will search for a drug that can compensate for the absence of one of these proteins to allow correct function of the other proteins offering possible leads for treatment.
Lymphangiogenesis From Development To Disease: Analysis Of SOX18 Function In The Control Of Lymphatic Remodeling
Funder
National Health and Medical Research Council
Funding Amount
$401,361.00
Summary
Cancers are lethal mainly because they spread (metastasise) to other parts of the body via blood vessels and lymphatic ducts. Pilot studies suggest that suppressing the function of a gene, SOX18, reduces tumour metastasis. We now propose to confirm these findings and study this effect in detail, with the ultimate aim of developing new therapies able to complement already existing anti-cancer treatments.
Identifying And Characterizing Genes That Regulate Breast Tumorigenesis And Metastasis
Funder
National Health and Medical Research Council
Summary
I am a breast cancer biologist. My research focuses on identifying the changes in normal cells that allow cancer to form, and identifying the changes in cancer cells that allows them to spread. To accomplish this, I have developed new methods using mouse models of breast cancer. My goal is to use these methods to further our understanding of the causes of breast cancer development and progression.
Discovering And Targeting Genes Regulating Skeletal Muscle Function, Metabolism, And Adaptations To Exercise Interventions
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Muscle wasting and decreased in mitochondrial function due to ageing or lack of physical activity are associated with reduced quality of life. The overarching aim is to develop a unique research program focusing on targeting specific genes, and to discover novel genes regulating muscle wasting and mitochondrial (dis)function. I anticipate this approach to assist in the development of targeted and personalised prevention and therapy for diseases associated with muscle (dis)function.
Development And Application Of A Novel Technology, CaptureSeq, To Focus Sequencing To Discover Genes In ‘empty’ Genomic Regions Associated With Disease.
Funder
National Health and Medical Research Council
Funding Amount
$421,747.00
Summary
Dr. Mercer will develop a new technology, CaptureSeq that is able to focus RNA sequencing on targeted regions of interest. This focus gives CaptureSeq an unprecedented sensitivity to discover new genes and regulatory elements in regions of the genome that have been associated with disease but are otherwise barren and empty. This project will thereby uncover both new genes candidates for further disease research and develop a technology with unique and widespread research and clinical potential.
Understanding Gene Regulation In Disease Using High Throughput Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
While genetics refers to the gene sequence, or DNA code, epigenetics refers to all the other factors that control how and when each gene is expressed. New technologies with the ability to sequencing billions of bases of DNA are now being used to study epigenetics. However the data sets are vast and complex. I use statistical and computational approaches in the emerging field of bioinformatics to make sense of this data and relate genome wide disruption of epigenetic marks to diseases.