Defining The Changes In Cell Biology Caused By PRESENILIN Truncations Associated With Different Diseases
Funder
National Health and Medical Research Council
Funding Amount
$622,886.00
Summary
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be requir ....Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.Read moreRead less
SELECTIVE VULNERABILITY IN ALZHEIMER’S DISEASE AND RELATED DISORDERS: MECHANISM OF TAU PATHOLOGY
Funder
National Health and Medical Research Council
Funding Amount
$1,072,324.00
Summary
Alzheimer’s disease and related dementias affect 230,000 people in Australia, with numbers expected to grow to 730,000 by 2050. The direct costs for health and residential care alone exceed $6.6 billion per annum. By identifying genes that protect degenerating neurons in the Alzheimer brain, a deeper understanding of the underlying processes will be gained and therapeutic targets will be defined that will assist in developing a therapy for a yet uncurable disease.
Identification And Characterisation Of A Novel Parkinson's Disease Gene
Funder
National Health and Medical Research Council
Funding Amount
$556,313.00
Summary
Parkinson’s disease (PD) is a complex neurological condition affecting 100,000 Australians. The primary clinical features of PD result from the selective loss of a specific type of neuron. These neurons make up less than 1% of the over 50 million neurons within the brain, and it is currently unclear why they are preferentially lost during disease development. We have identified a novel gene that causes early onset parkinsonism. This study will characterise the gene and determine what role it pla ....Parkinson’s disease (PD) is a complex neurological condition affecting 100,000 Australians. The primary clinical features of PD result from the selective loss of a specific type of neuron. These neurons make up less than 1% of the over 50 million neurons within the brain, and it is currently unclear why they are preferentially lost during disease development. We have identified a novel gene that causes early onset parkinsonism. This study will characterise the gene and determine what role it plays in the development of PD.Read moreRead less
Molecular Control Of Interneuron Development And Function In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$527,828.00
Summary
This project will study the changes that occur in neurons, during normal brain maturation and in pathology. We hypothesise that early signs of brain malfunction can be detected in neurons before symptoms appear. The role of a gene will be studied during development and disease in a mouse model of autism, in order to identify the molecular and electrical signs of abnormal activity. This research will ultimately enable us to propose new strategies to treat symptoms of brain disease.
Neuroprotection Against Parkinson’s Disease With Remote Photobiomodulation
Funder
National Health and Medical Research Council
Funding Amount
$314,818.00
Summary
Treating the head of rodents with low-intensity 670nm light protects against Parkinson’s disease (PD), but the large size of the human skull and brain precludes clinical translation of this treatment. We have discovered that the brain is also protected when light is targeted at peripheral tissues (e.g. a limb), overcoming problems of delivery. This project aims to optimise this treatment and better understand how it works, to lay the scientific basis for a clinical trial.
Closed-loop Deep Brain Stimulation: Optimising Treatment Of Parkinson’s Disease Using Adaptive Stimulation
Funder
National Health and Medical Research Council
Funding Amount
$726,177.00
Summary
Deep brain stimulation is an established therapy for Parkinson's disease when patients’ symptoms cannot be controlled adequately using medication. Although deep brain stimulation usually improves quality of life significantly, existing devices have shortcomings that often result in poor symptom alleviation and/or undesirable side-effects. This project is aimed at developing an innovative system that automatically adjusts stimulation according to the continually fluctuating needs of each patient.
Clarifying The Clinical Application And Mechanisms Of Pedunculopontine Nucleus Deep Brain Stimulation For Parkinson’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$202,320.00
Summary
Over 64,000 Australians have Parkinson’s disease. Most patients with Parkinson’s disease ultimately develop gait ‘freezing’ and poor balance, which impair quality of life and cause falls. Unfortunately, gait freezing and poor balance often don’t improve with conventional treatments. We are therefore helping to develop a new treatment for these symptoms, which involves implanting a pacemaker into a very deep region in the brain called the “Pedunculopontine Nucleus’.
Seizures appear unpredictable and greatly affect the quality of all aspects of life for patients with epilepsy and their carers. New advances in complex systems theory suggest that transitions from normal brain activity to seizures are preceded by measurable changes in the brain’s responses to stimuli, known as critical slowing. Measurement of critical slowing will enable prediction of seizures, providing a warning system, and possibly an opportunity to deliver preventative therapies.
Copper Pathways Are Altered In Parkinson’s Disease: Implications For Cell Vulnerability
Funder
National Health and Medical Research Council
Funding Amount
$341,398.00
Summary
The cause of brain cell death in Parkinson’s disease is unknown but we have shown that copper levels are reduced in the vulnerable brain regions in this disorder. As copper is vital for the normal function of key brain proteins we suggest that reduced copper contributes to cell damage in vulnerable brain regions. This project investigates why brain copper levels are reduced in the Parkinson’s disease brain and the consequences of this change for brain cell function and survival.
Defining The Basis Of Autoimmune Attacks Against Myelin To Better Target Treatment Of Demyelinating Disorders
Funder
National Health and Medical Research Council
Funding Amount
$913,216.00
Summary
Brain autoimmunity is a common and costly cause of neurological and psychiatric disability in children and adults. Exploring the autoimmune response that targets the brain is essential for accurate diagnosis, prognosis, and treatment. This project grant will identify and study the earliest autoimmune responses against the brain in children and adults. This will allow early and directed treatments that will not only prevent disability, but will also be life-saving.