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.
Optimization Of Splice Switching Therapies To Treat Duchenne Muscular Dystrophy
Funder
National Health and Medical Research Council
Funding Amount
$448,827.00
Summary
Duchenne muscular dystrophy, the most common and serious form of childhood muscle wasting, is caused by mutations in the dystrophin gene that block synthesis of the normal product. Antisense oligomers have been used in clinical trials to remove the disease-causing part of the message and rescue expression. Clinical trials have demonstrated proof-of-concept, although individual responses varied. This application seeks to improve the therapeutic potential of these compounds.
Targeting The Oncoprotein MDMX As A Novel Treatment For Triple Negative Breast Cancer
Funder
National Health and Medical Research Council
Funding Amount
$561,672.00
Summary
Breast cancer (BrCa) is a leading cause of cancer death in women worldwide. BrCas unable to respond to current therapies have the worst outcomes. We propose a novel strategy to treat these cancers, based on our new findings. Our two protein targets are: (1) MDMX, that we found drives BrCa with its partner, (2) mutant p53, which causes cancer spread. We plan to directly target these drivers of aggressive BrCas, using new drugs that individually show great promise in trials in a number of cance
Targeted Alternative Splicing: A Common Therapeutic Platform To Treat Inherited Diseases
Funder
National Health and Medical Research Council
Funding Amount
$797,165.00
Summary
Genes consist of exons (protein coding domains) separated by introns (non-coding intervening sequences). It is now evident that not every exon need be included in the gene message to direct synthesis of a functional gene product. This application seeks to identify which exons are essential for gene function and those exons that are "dispensable". Such information will allow personalized therapies to be developed based on splice switching, as we have done for Duchenne muscular dystrophy.
Blood-Brain Barrier Penetrating Antisense Therapy For Spinal Muscular Atrophy
Funder
National Health and Medical Research Council
Funding Amount
$635,005.00
Summary
Spinal muscular atrophy (SMA) is a genetic disease caused by the deficiency of a protein known as survival motor neuron.This results in the degeneration of motor neurons (nerve cells controlling muscles) leading to progressive muscle weakness, paralysis, and eventual death. Currently, there is no known cure for SMA. The aim of proposed research is to develop gene-modifying molecules that prevent degeneration of motor neuron and extend the life-span of mice as a potential therapy for SMA.
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.
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.
Artificial Synthesis Of The Type III Secretion System Translocon. A New Approach To Vaccine Design
Funder
National Health and Medical Research Council
Funding Amount
$668,742.00
Summary
Today hospitals are plagued with bacterial infections that do not respond to antibiotics. The problem exists because although antibiotics are effective at killing bacteria, this paradoxically also helps the drug-resistant bacteria thrive. We will pioneer a completely new approach to vaccine design that allows us to construct a vaccine that protects us from bacterial infection without killing the bacteria. The vaccine should therefore be far less susceptible to drug resistance.
Three percent of children born in Australia are from IVF. It is typical in IVF to replace 2 or more embryos in order to attain an acceptable pregnancy rate. However, twin pregnancies are common as a result, with 25% of all twins coming from IVF. Twins represent a real medical issue for mother and infants. Therefore, this research will use new highly innovative technologies to determine the health of an individual embryo in the culture dish prior to transfer, making the selection and transfer of ....Three percent of children born in Australia are from IVF. It is typical in IVF to replace 2 or more embryos in order to attain an acceptable pregnancy rate. However, twin pregnancies are common as a result, with 25% of all twins coming from IVF. Twins represent a real medical issue for mother and infants. Therefore, this research will use new highly innovative technologies to determine the health of an individual embryo in the culture dish prior to transfer, making the selection and transfer of an individual embryo a reality.Read moreRead less
Recent Changes In IVF Clinical Practice: Data Linkage To Investigate Their Impact On Fetal Growth And Birth Defects.
Funder
National Health and Medical Research Council
Funding Amount
$219,076.00
Summary
In Australia 1 in 25 births are conceived from IVF treatment and this is increasing with the continuing trend towards later childbearing. This study will use linked population data to assess fetal growth and birth defects in IVF-conceived children following major changes to IVF practice in the last decade. There are limited data internationally on health outcomes following the use of more recent IVF techniques and insufficient data to allow for adequate pre-treatment counselling.