The role of gene isoforms in human brain development. This project aims to investigate how genes vary their products to control human brain development, by creating new methods to study gene activity in individual brain cells. Using these innovative methods, this project expects to generate fundamental new knowledge of how the human brain forms. Expected outcomes of this project include widely applicable techniques, strengthened international (UK) research collaborations and highly trained perso ....The role of gene isoforms in human brain development. This project aims to investigate how genes vary their products to control human brain development, by creating new methods to study gene activity in individual brain cells. Using these innovative methods, this project expects to generate fundamental new knowledge of how the human brain forms. Expected outcomes of this project include widely applicable techniques, strengthened international (UK) research collaborations and highly trained personnel in genomics and neuroscience. This should deliver many benefits, including a better understanding of how the brain forms, training of higher degree by research students, as well as tools and methods of benefit to the academic research and biotechnology sectors.Read moreRead less
The role of RNA editing by the brain-specific enzym ADAR3 in learning and memory. Higher-order cognition sets us apart from other species but how this is achieved is still under debate. The project will test the idea, strongly supported by recent genomic analyses, that subtle changes in the sequences of RNA in response to environmental stimuli underpin this extraordinary ability.
Discovery Early Career Researcher Award - Grant ID: DE140101033
Funder
Australian Research Council
Funding Amount
$315,220.00
Summary
Genomic Diversity in the Human Brain: the Functional Role of Expandable DNA Repeats. Neuronal cells accumulate genetic changes during development and adult life, and recent evidence suggests that the resulting genomic diversity may underlie neuronal functional diversity. To date only a few types of somatic genetic variation have been characterised in the human brain. Trinucleotide repeats (TNR) are hotspots of genomic instability and TNR expansions at specific loci cause dozens of brain disorder ....Genomic Diversity in the Human Brain: the Functional Role of Expandable DNA Repeats. Neuronal cells accumulate genetic changes during development and adult life, and recent evidence suggests that the resulting genomic diversity may underlie neuronal functional diversity. To date only a few types of somatic genetic variation have been characterised in the human brain. Trinucleotide repeats (TNR) are hotspots of genomic instability and TNR expansions at specific loci cause dozens of brain disorders, suggesting that the human brain is particularly vulnerable to this type of genetic variation. This project aims to investigate, for the first time, TNR somatic instability in the human brain on a genome-wide scale, therefore, addressing the genetic diversity of the brain from a novel and highly relevant angle. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE110100068
Funder
Australian Research Council
Funding Amount
$240,000.00
Summary
Mass spectrometry platform for high throughput genotyping, epigenetic analysis and validation of genome wide sequencing studies. This facility will provide a platform for Australian researchers to quantitatively measure genetic information in a rapid, accurate and cost-efficient manner. This technology will enhance Australia's ability to perform basic research into the genetic and epigenetic mechanisms of cellular function.
The role of actin in driving bulk endocytosis in neurons and neurosecretory cells. Synaptic release of neurotransmitter is essential for neuronal communication. Following fusion, synaptic vesicle membrane is incorporated into the plasma membrane and retrieved by endocytosis to recover both lipids and essential vesicular proteins. The project will characterise how the actin cytoskeleton perform this function.
Regulation of neurite outgrowth by an inhibitor of PI3K signalling. PIPP is an enzyme which inhibits important cellular functions such as cell maturation. We have shown the amount of PIPP is increased in Alzheimer's disease brains. This project will characterise the mechanisms by which PIPP regulates brain cell function to identify how PIPP may be acting to exacerbate Alzheimer's disease development/progression.
Deciphering the cellular defences against aggregating proteins in human disease. Cells have inbuilt defences for coping with proteins that bend into abnormal sticky shapes that form toxic clusters. In many diseases, including Huntington's, the clusters severely damage nerve cells. This project will identify the genes and mechanisms cells use to protect themselves from toxic clusters, which could provide new therapeutic targets.