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Genetic Biomarkers And Molecular Pathways For Migraine
Funder
National Health and Medical Research Council
Funding Amount
$273,988.00
Summary
Common migraine, is a frequent, debilitating and painful disorder that affects people during their most productive years (up to 25% of women and 8% of men). Our recent results indicate the presence of multiple genetic factors contributing towards migraine susceptibility. Utilising detailed migraine symptom and medication data, larger numbers of migraine cases and controls, and applying the latest genotyping and imputation technologies, we will identify novel genetic biomarkers and molecular path ....Common migraine, is a frequent, debilitating and painful disorder that affects people during their most productive years (up to 25% of women and 8% of men). Our recent results indicate the presence of multiple genetic factors contributing towards migraine susceptibility. Utilising detailed migraine symptom and medication data, larger numbers of migraine cases and controls, and applying the latest genotyping and imputation technologies, we will identify novel genetic biomarkers and molecular pathways for migraine.Read moreRead less
Variation in our genetic makeup can cause serious brain disorders such as epilepsy. The goal of this research is to determine how variation in an epilepsy patients genes produce fundamental changes in brain function that lead to epilepsy. This is a multidisciplinary program that combines clinical, genetic, electrophysiological, morphological and computational approaches to create a fundamental understanding of the genesis of this important disease.
The Role Of Mutant Cyclin F In Amyotrophic Lateral Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$1,012,933.00
Summary
Amyotrophic lateral sclerosis (ALS, also known as motor neuron disease, MND) is characterised by rapid paralysis leading to death within 2 to 5 years of onset. There are no effective diagnostic tests or treatments. Confusion remains around the primary cause of paralysis. We recently discovered ALS gene mutations that disrupt normal nerve function, a process known as abnormal protostasis. This gives us a unique opportunity to unlock the primary cause of paralysis and develop animal models of ALS
The Characterisation Of The Functional Regions Of Sarcomeric Alpha-actinins And To Determine How The Absence Of Alpha-actinin-3 Influences Human Skeletal Muscle Function And Metabolism.
Funder
National Health and Medical Research Council
Funding Amount
$95,313.00
Summary
We are studying a muscle protein called a-actinin-3. This protein is absent in approximately one billion people worldwide. A-actinin-3 is associated with athletic performance. Our goal is to explore how the absence of a-actinin-3 influences human skeletal muscle function and metabolism. We will be studying a-actinin-3 deficiency using a mouse model.
A Novel Cytoskeletal Structure In Muscle Is Associated With Muscular Dystrophy
Funder
National Health and Medical Research Council
Funding Amount
$371,250.00
Summary
A NEW PROTEIN NETWORK IN MUSCLE IS ASSOCIATED WITH MUSCLE DISEASE An intricate protein network connects the contracting mechanism of a muscle to the surrounding cell membrane. Disruption of this connection is one of the known causes of muscular dystrophy. For many patients however the cause of the disease is unknown. We have identified a new region within this protein network that is also associated with muscle disease in mice. A number of proteins that are involved in transmitting chemical mess ....A NEW PROTEIN NETWORK IN MUSCLE IS ASSOCIATED WITH MUSCLE DISEASE An intricate protein network connects the contracting mechanism of a muscle to the surrounding cell membrane. Disruption of this connection is one of the known causes of muscular dystrophy. For many patients however the cause of the disease is unknown. We have identified a new region within this protein network that is also associated with muscle disease in mice. A number of proteins that are involved in transmitting chemical messages from one part of the muscle cell to another are found at this same location. It is possible that disruption of these messages may lead to muscle disease. This project aims to establish the nature of the relationship between the proteins found in this newly identified region of the protein network and muscle diseases such as muscular dystrophy, in both animal models and in humans. We expect that this project may identify new markers for identifying the cause of muscle diseases in some patients and lead to better hopes for an eventual cure.Read moreRead less
The human genome project was a major advance, allowing for molecular foothold towards an understanding of human diseases. The question now is “what do these genes do, and how do they participate in human disease?” In my lab we are focused on this issue. We use whole genome, functional in vivo screening in the fruit fly to identify novel conserved disease genes, then we use human genetics data to focus on medically relevant candidates, finally we use knockout mice to functionally validate these n ....The human genome project was a major advance, allowing for molecular foothold towards an understanding of human diseases. The question now is “what do these genes do, and how do they participate in human disease?” In my lab we are focused on this issue. We use whole genome, functional in vivo screening in the fruit fly to identify novel conserved disease genes, then we use human genetics data to focus on medically relevant candidates, finally we use knockout mice to functionally validate these new genesRead moreRead less
The Pathway Linking Tau And APP In Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$312,085.00
Summary
Recently I co-discovered a novel relationship between the AlzheimerÍs amyloid precursor protein and tau, both of which play a role in regulating neuronal iron levels. I predict that multiple failures in iron-regulating systems could foster a toxic iron accumulation in brain, leading to the development of neurodegenerative diseases. I hope to gain a better understanding of their mechanism of action and propose that this pathway is a target for therapeutic intervention.
Investigating The Consequences, Pathogenesis, And Treatment Of Repeated Brain Concussions In A Novel Rodent Model
Funder
National Health and Medical Research Council
Funding Amount
$513,752.00
Summary
Concussions are now recognized as a serious medical issue. There is particular concern for individuals who are at high risk of suffering concussions, such as soldiers and athletes, as evidence indicates that repeated concussions are associated with neurodegenerative disease. Here we will use an animal model of repeated concussion to examine these injuries. These studies will increase our understanding of concussion, and hold important implications for their management in the clinical setting.
The Role Of Beta-Amyloid Precursor Protein And Tau In The Regulation Of Neuronal Iron
Funder
National Health and Medical Research Council
Funding Amount
$650,226.00
Summary
We have recently discovered a novel relationship between amyloid precursor protein (APP) and tau in regulating neuronal iron balance. This project will establish how tau aids APP transport to the cell surface where it assists cellular iron release. A commonality in some neurodegenerative diseases are disruptions in either proteinsÍ function and iron-related excitotoxicity. Understanding the iron role of APP and tau will lead to a therapeutic mechanism of action and better future drug design.
IRON EXPORT PROTEIN FAILURE IN PARKINSONISM AND DEMENTIA
Funder
National Health and Medical Research Council
Funding Amount
$843,352.00
Summary
We recently discovered a novel relationship between the Alzheimer’s amyloid precursor protein (APP) and tau, and that both proteins play a role in regulating iron levels in the brain. We predict that a loss or multiple failures in these iron-regulating systems could foster a toxic iron accumulation in brain, leading to the development of diseases with dementia such as Alzheimer’s and Parkinson’s diseases. We hope to gain a better understanding of their mechanism of action and propose that this p ....We recently discovered a novel relationship between the Alzheimer’s amyloid precursor protein (APP) and tau, and that both proteins play a role in regulating iron levels in the brain. We predict that a loss or multiple failures in these iron-regulating systems could foster a toxic iron accumulation in brain, leading to the development of diseases with dementia such as Alzheimer’s and Parkinson’s diseases. We hope to gain a better understanding of their mechanism of action and propose that this pathway is a target for therapeutic intervention.Read moreRead less