Mitochondrial Enzyme Regulates RNA Metabolism In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$67,381.00
Summary
Mitochondria are microscopic, energy producing machines that are found in all human cells. Mitochondria contain a small set of genes that must work properly to make the energy our bodies require for health. Defects in the expression of genes coding for mitochondrial proteins causes debilitating diseases for which there are effective treatments. I will investigate how a mitochondrial protein whose dysfunction is known to cause a metabolic disease regulates mitochondrial gene expression.
The Role Of Mitochondrial Dysfunction In Metabolic Disease
Funder
National Health and Medical Research Council
Funding Amount
$61,383.00
Summary
We have previously found that PTCD1 can regulate mitochondrial gene expression and metabolism in cells (Mercer et al., 2011 and Lopez Sanchez et al., 2011). There is still much to learn about the mitochondria and their DNA. Charactering PTCD1, a protein that has previously seen little research, will enable us to elucidate the role of this protein in mitochondria and energy metabolism in an effort to increase understanding of obesity and type 2 diabetes.
Recognising And Improving Management Outcomes Of Adult Patients With Mitochondrial Diseases
Funder
National Health and Medical Research Council
Funding Amount
$87,199.00
Summary
Mitochondrial diseases comprise the most common diagnostic group amongst neuromuscular and neurogenetic diseases, but are not well known in the community, with no established standards of management. The Study aims to devise strategies to deliver better care for patients with mitochondrial diseases, from their screening and diagnosis, continued monitoring and prognostication, to the potential treatment and promotion of a better management paradigm; as well as facilitation of ongoing research int ....Mitochondrial diseases comprise the most common diagnostic group amongst neuromuscular and neurogenetic diseases, but are not well known in the community, with no established standards of management. The Study aims to devise strategies to deliver better care for patients with mitochondrial diseases, from their screening and diagnosis, continued monitoring and prognostication, to the potential treatment and promotion of a better management paradigm; as well as facilitation of ongoing research into the management of patients with these diseases.Read moreRead less
The Neuro-ophthalmological Manifestations Of Human Mitochondrial Diseases.
Funder
National Health and Medical Research Council
Funding Amount
$100,675.00
Summary
Human mitochondrial diseases often result in neuro-ophthalmological abnormalities. We aim to examine a cohort of patients with mitochondrial disease and document the type and degree of neuro-ophthalmological abnormality. We will provide detail on the retina, optic nerve, oculomotor function, eyelids and visual acuity. We will examine the optic nerve in detail and perform optical coherence tomography and visual evoked potentials on each patient. We will compare results to age-matched controls.
Investigation Into The Roles Of Ena/VASP-Like And Protein Phosphatase 4C In DNA Damage Repair Via Homologous Recombination
Funder
National Health and Medical Research Council
Funding Amount
$57,139.00
Summary
The repair of DNA damage is a critical cellular mechanism that exists to ensure genomic stability. This project aims to investigate the role of the proteins Ena/VASP-Like and Protein Phosphatase 4C in DNA damage repair via homologous recombination. The DNA damage response pathway is an important area in the study of cancer and ageing, and the potential role of PP4C and EVL in homologous recombination needs to be investigated further.
Examining The Specific Vulnerability Of Dopaminergic Cells To Bioenergetic Defects Using Patient-derived Induced Pluripotent Stem Cells As A Model Of Parkinson’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$112,366.00
Summary
The project will develop new cell models of Parkinson's disease utilising the recently discovered technique of inducing pluripotent stem cells from adult skin cells and differentiating them into the type of neurons that are affected in Parkinson's disease. The novel method will allow further insights to be gained into the molecular pathways involved in the disease and facilitate a search for means to rescue these cells from neurodegenerative processes.
“Genetics, epigenetics, and the environment” is often used to describe a complex that results in the production of a phenotype; the latter two usually blamed with missing heritability. We know that the environment affects dental development and dental caries susceptibility, but we have little information about the precise molecular mechanisms linking the environment to observed phenotypes. This study interorgates the role of epigenetics in dental development and dental caries.
Circulating Tumor DNA To Monitor Treatment Response And Resistance In Mantle Cell Lymphoma
Funder
National Health and Medical Research Council
Funding Amount
$122,714.00
Summary
Many cancers shed small amounts of DNA into the patient’s bloodstream. Recent advances in genomic technologies now allow small levels of cancer DNA to be accurately measured in the peripheral blood. Changes in DNA levels have the potential to be used as specific markers of disease progression and/or response to cancer therapy. This project will evaluate if this DNA can be measured from a simple blood test to serially follow patients receiving treatment for mantle cell lymphoma.
Molecular Barcoding To Understand Clonal Dynamics In The Initiation, Maintenance And Progression Of Acute Myeloid Leukemia (AML) At Single Cell Resolution
Funder
National Health and Medical Research Council
Funding Amount
$132,743.00
Summary
Acute myeloid leukaemia (AML) is a blood cancer with low rates of long-term survival. Understanding the ways that AML adapts in the face of treatment will allow us to design treatment that prevents resistance to, and relapse following, treatment. This project will use a new technique called molecular barcoding to allow us to see the genetic and non-genetic changes that occur in each individual leukaemia cell over time in order to determine the mechanisms that underpin resistance to treatment.
Use Of Circulating Tumour DNA To Characterise The Mutational Landscape Of Marginal Zone Lymphoma, Monitor Treatment Response And Detect Emergence Of Resistance
Funder
National Health and Medical Research Council
Funding Amount
$128,224.00
Summary
Marginal zone lymphoma (MZL) is a subtype of B-cell non-Hodgkin lymphoma for which the molecular drivers of disease are poorly understood. We hypothesise that circulating tumour DNA may be ideal for characterising the genetic mutations that underpin MZL, monitoring treatment response and detecting emergence of resistance. This non-invasive method of disease monitoring has the potential to transform management of cancers such as MZL, identify new treatment options and improve survival outcomes.