The Structure And Organization Of The Mitochondrial Genome In Health And Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$553,646.00
Summary
Mitochondrial DNA (mtDNA) mutations and mitochondrial dysfunction have been associated with a wide range of multi-system human diseases, although much remains to be learnt about molecular mechanisms in the pathogenesis of these diseases. Our goal is to understand how the expression of the mitochondrial DNA is regulated by mtDNA-binding proteins that will allow us to provide important insights into the molecular mechanisms of mitochondrial diseases.
L1 Retrotransposition In Human Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$414,085.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in the human genome. Previously thought to represent ñjunk DNAî, retrotransposons are increasingly being found to play important roles in biology. This fellowship will allow Dr Faulkner to research the consequences of retrotransposons being active in the body during development, and in adulthood, as a potential cause of cancer.
Neuronal Genome Mosaicism: A Molecular Component Of Cognition?
Funder
National Health and Medical Research Council
Funding Amount
$687,975.00
Summary
The brain is a complex and dynamic organ tasked with interpreting and responding to the world around us. My recent work has shown that mobile genetic elements, or 'jumping genes', cause changes in the DNA of brain cells, potentially altering how they work. During the course of this fellowship, I will examine how and when during life these DNA changes occur, whether they play a role in memory formation, and whether they contribute to neurodevelopmental and mental health conditions.
Understanding The Role Of Chromosome Condensation Proteins And Their Link To Disease
Funder
National Health and Medical Research Council
Funding Amount
$601,224.00
Summary
Cells divide through a complex cascade of signals from our genetic material (DNA) which need to be finely tuned for events to occur properly. Errors in control cause faulty cell division and lead to diseases such as cancer. We have identified a master controller of these events termed the condensin complex and aim to understand how it orchestrates these functions by creating a map of its DNA location and understanding which regions in the genetic material it controls and how.
Discovery Early Career Researcher Award - Grant ID: DE190100085
Funder
Australian Research Council
Funding Amount
$414,864.00
Summary
Elucidating a novel mechanism for coping with harmful mutations. This project aims to improve our understanding of the complex regulatory mechanisms that increase genetic and phenotypic robustness. Survival of organisms depends on their ability to cope with genetic variation. A novel process of genetic compensation has recently been identified, producing a normal phenotype in a homozygous mutant, that would be expected to have deleterious effects. This project will reveal how compensation is ach ....Elucidating a novel mechanism for coping with harmful mutations. This project aims to improve our understanding of the complex regulatory mechanisms that increase genetic and phenotypic robustness. Survival of organisms depends on their ability to cope with genetic variation. A novel process of genetic compensation has recently been identified, producing a normal phenotype in a homozygous mutant, that would be expected to have deleterious effects. This project will reveal how compensation is achieved by examining the molecular pathways that are activated following genetic mutation. This project is expected to strengthen Australian reputation in evolutionary genetics, and in turn enhance our understanding of how organisms adapt to changing environments.Read moreRead less
Designer DNA-binding factors. This project aims to use a natural transcription factor family to enhance the efficiency and functionality of designer DNA-binding factors. Research into the structure and function of zinc finger transcription factors, TAL effectors and CRISPR created designer DNA-binding factors. However, though research has improved the specificity of these factors’ genome-wide binding, their efficacy in regulating the expression of genes requires improvement. Using sequencing, th ....Designer DNA-binding factors. This project aims to use a natural transcription factor family to enhance the efficiency and functionality of designer DNA-binding factors. Research into the structure and function of zinc finger transcription factors, TAL effectors and CRISPR created designer DNA-binding factors. However, though research has improved the specificity of these factors’ genome-wide binding, their efficacy in regulating the expression of genes requires improvement. Using sequencing, the project intends to enhance the efficiency and function of these factors by designing modules to improve the stability of DNA binding and effectiveness in functionally regulating gene expression. The project outcomes could include knowledge enabling the use of genetically engineered DNA-binding proteins to artificially control gene expression, with significant scientific and economic implications.Read moreRead less
Road rules for traffic on DNA - gene regulation by encounters between transcribing RNA polymerases and DNA-bound proteins. This project addresses a widespread but poorly understood phenomenon in gene regulation. The work will support Australian industries by supplying new tools for manipulation of gene expression for industrial and medical applications and will provide unique opportunities for Australian students in this emerging field.
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
Non-coding RNAs in mammalian reproduction. This project aims to investigate the role of non-coding RNAs in mammalian sex chromosome biology and reproduction. Non-protein coding RNAs are a major regulatory mechanism in eukaryotic genomes; they can bind other RNAs or chromatin modifying complexes. However, the evolutionary trajectory and function of non-coding RNAs in sex chromosome biology and sexual development is largely unknown. This project will study non-coding RNAs in Australian mammals to ....Non-coding RNAs in mammalian reproduction. This project aims to investigate the role of non-coding RNAs in mammalian sex chromosome biology and reproduction. Non-protein coding RNAs are a major regulatory mechanism in eukaryotic genomes; they can bind other RNAs or chromatin modifying complexes. However, the evolutionary trajectory and function of non-coding RNAs in sex chromosome biology and sexual development is largely unknown. This project will study non-coding RNAs in Australian mammals to try to answer fundamental questions about how non-coding RNAs function in mammalian sexual development.Read moreRead less