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Understanding The Pathogenesis Of Mitochondrial Disease Using IPS Cells
Funder
National Health and Medical Research Council
Funding Amount
$640,372.00
Summary
Induced pluripotent stem (iPS) cells are stem cells derived from adult skin cells that can be converted into cell types such as neurons. iPS cells offer great promise in understanding and treating inherited disorders. However, there are concerns that the “epigenetic memory” of iPS cells has not been completely erased, which may limit the utility of iPS cells. We will evaluate and validate the use of iPS technology in mouse and human models of inherited disorders affecting energy generation.
Through the Australia Fellowship Prof Mattick will lead a team of researchers to explore the scientific and applied dimensions of the thesis that the human genome is not largely comprised of evolutionary debris, but encodes an extraordinarily sophisticated information suite that is largely transacted by RNA. The work will include examination of the expression patterns on noncoding RNAs in different tissues and cells and different disease states, exploration of the location and dynamics of RNAs a ....Through the Australia Fellowship Prof Mattick will lead a team of researchers to explore the scientific and applied dimensions of the thesis that the human genome is not largely comprised of evolutionary debris, but encodes an extraordinarily sophisticated information suite that is largely transacted by RNA. The work will include examination of the expression patterns on noncoding RNAs in different tissues and cells and different disease states, exploration of the location and dynamics of RNAs associated with DNA and various proteins to determine how these RNAs influence gene expression, targeted functional analyses of selected subsets of these RNAs to determine their biological function as proof-of-principle for others, exploration of the roles of RNA editing proteins, and testing of the hypothesis that RNA-directed DNA recoding might underpin memory formation. If correct, the results of the project will transform our understanding of human biology, development, and brain function, and create an enlightened framework for future research into human health and disease.Read moreRead less
We are studying stem cells and their utility for transplantation into several organ systems including blood, neural and liver. We are also determining the relevance of epigenetic changes in transplanted cells that may interfere with normal function and could be the basis for disease.
Novel Fragile X Syndrome Prevalence Estimates In 100,000 Australian Newborns, Prognostic And Health-economic Outcomes: A Retrospective Newborn Screening Study
Funder
National Health and Medical Research Council
Funding Amount
$769,866.00
Summary
Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.
There are new genetic technologies on the horizon that will influence decision-making about testing in pregnancy for fetal abnormality and also create a greater need for communication of important genetic information in families. Two areas of my research will focus on these issues. I will also examine how the interaction between genes and the environment during pregnancy, specifically in relation to alcohol use and assisted reproduction, impacts on offspring health and development