Uncovering The Molecular Mechanisms Behind Charcot-Marie-Tooth Disease
Funder
National Health and Medical Research Council
Funding Amount
$320,967.00
Summary
Charcot-Marie-Tooth disease (or CMT) is one of the most common disorders of the nervous system, affecting the normal function of the limbs and causing lifelong disabilities. There is currently no cure for CMT. The aim of this research is to develop a new model of CMT, which will allow us to uncover novel information about how the disease develops. This research will provide a better understanding of the disease and therefore provide valuable insight for the future generation of therapeutics.
Gene Identification For Inherited Peripheral Neuropathies By Applying Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$605,058.00
Summary
Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to ....Our goal is to study the biology underlying the death of motor and sensory nerves by identifying novel genes causing Charcot-Marie-Tooth (CMT) neuropathy. Using massively parallel sequencing we will systematically analyse the novel DNA changes througout the genome in CMT families in which the underlying gene mutation is unknown. Discovery of genes causing inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies to prevent the death of motor and sensory nerves.Read moreRead less
Discovering Genes For X-linked Charcot-Marie-Tooth Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$486,789.00
Summary
Our goal is to explore peripheral nerve degeneration by identifying the genes causing X-linked forms of Charcot-Marie-Tooth neuropathy. Using bioinformatic resources, next generation sequencing and state of-the-art microarray and mutation scannning technologies we will perform comprehensive systematic analysis of candidate genes on the X chromosome. Discovery of genes for this subset of inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted the ....Our goal is to explore peripheral nerve degeneration by identifying the genes causing X-linked forms of Charcot-Marie-Tooth neuropathy. Using bioinformatic resources, next generation sequencing and state of-the-art microarray and mutation scannning technologies we will perform comprehensive systematic analysis of candidate genes on the X chromosome. Discovery of genes for this subset of inherited peripheral neuropathies will elucidate mechanisms causing neurodegeneration and lead to targeted therapeutic treatment strategies.Read moreRead less
From Measurement To Management Of Inherited Neuromuscular Disorders
Funder
National Health and Medical Research Council
Funding Amount
$401,361.00
Summary
Neuromuscular disorders can damage muscle, motor neurone or nerves, causing progressive weakness, disability and poor quality of life. Three themes of research will improve treatment of the most common nerve disorder, Charcot-Marie-Tooth disease. The research will use state-of-the-art measurement tools, ensuring research translation through multicentre trials and best-practice guidelines. The goal is to reduce the burden on patient and society and promote excellence and innovation for nerve and ....Neuromuscular disorders can damage muscle, motor neurone or nerves, causing progressive weakness, disability and poor quality of life. Three themes of research will improve treatment of the most common nerve disorder, Charcot-Marie-Tooth disease. The research will use state-of-the-art measurement tools, ensuring research translation through multicentre trials and best-practice guidelines. The goal is to reduce the burden on patient and society and promote excellence and innovation for nerve and muscle research.Read moreRead less
Mitochondria are both the powerhouses and the poison cupboard of our cells. They have evolved from bacteria and still possess the ability to grow and divide. Unregulated mitochondrial division is seen in dying cells and in cells from patients with neurodegenerative diseases. We have identified new molecules involved in mitochondrial division and are investigating how they function in normal and unhealthy cells.
I am a lab-based neurochemist-cell biologist with expertise in protein chemistry and pharmacology. My research focuses on the dynamin family of proteins in the endocytosis of synaptic vesicles and in the molecular mechanisms of synaptic transmission in th
Novel Therapies And Diagnostic Tools In Neurogenetic Disorders
Funder
National Health and Medical Research Council
Funding Amount
$190,049.00
Summary
Friedreich ataxia, a life-shortening neurologic condition, has no proven treatment. This study will assess a medication called resveratrol in 60 individuals in centres in four Australian states. The second study will explore the effectiveness of an emerging imaging technique, high-resolution nerve ultrasound, in the diagnosis and monitoring of conditions that affect the nerves in childhood.
Consequences Of Dynamin 2 PH Domain Dysfunction In Charcot-Marie-Tooth Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$665,267.00
Summary
Our team has just discovered a new gene mutation that causes Charcot-Marie-Tooth (CMT) disease. CMT is a clinically and genetically diverse family of human peripheral neuropathies. CMT neuropathy is the most common inherited peripheral neuropathy, affecting approximately 1 in 2500. It is the most common human genetic disorder known and is caused by fifty or more genes. CMT is of large economic significance since many of the affected individuals are on lifetime invalid pensions and require contin ....Our team has just discovered a new gene mutation that causes Charcot-Marie-Tooth (CMT) disease. CMT is a clinically and genetically diverse family of human peripheral neuropathies. CMT neuropathy is the most common inherited peripheral neuropathy, affecting approximately 1 in 2500. It is the most common human genetic disorder known and is caused by fifty or more genes. CMT is of large economic significance since many of the affected individuals are on lifetime invalid pensions and require continual medical and paramedical support. The new mutation we discovered is in a variant form of CMT and affects the protein dynamin 2, in an important region called the PH domain. The normal function of Dyn2 is to retrieve activated receptors for hormones and growth factors from the membrane of cells (caller receptor mediated endocytosis or RME) and it is also required for other functions like cell proliferation. The PH domain is the part of Dyn2 that allows it to move to the appropriate part of the cell when needed to do its job, but it is not known whether the mutation disrupts this function of Dyn2. Since Dyn2 has multiple cellular functions, it is not understood why it might cause the disease. Our goal is to understand why this mutation causes peripheral nerves to degenerate, by revealing which of dynamin's many functions are primarily affected. We expect to uncover a new concept in how RME links to neuronal degeneration. In previous studies we developed the first drugs that interact with PH domains. We will now fully develop these, and synthesise new drugs that interact with the PH domain, as candidates to effect some repair of the damaged PH domain. A better understanding of Dyn2 and endocytosis is crucial to understanding both CMT and ultimately for developing therapies.Read moreRead less