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Developing Exon Replacement Gene Therapy To Cure Rett Syndrome: An Innovative Model For Neurodevelopmental Disorders
Funder
National Health and Medical Research Council
Funding Amount
$475,105.00
Summary
There is no cure for neurodevelopmental disorders such as Rett syndrome which is caused by mutations in the MECP2 gene. Gene therapy is ineffective due to the 'Goldilocks' effect where too little, as well as too much expression of MECP2 causes disease. Here a gene editing therapy will be tested in patient cells and mouse model that will maintain the normal cellular expression of MECP2 by cutting out the mutated regions of the gene (exons) and replacing them with repaired copies.
Targeting PD-1 Expressing T-peripheral Helper (Tph) Cells And Dysregulated Checkpoint Molecules: Improving Outcomes In Rheumatoid Arthritis
Funder
National Health and Medical Research Council
Funding Amount
$597,168.00
Summary
Rheumatoid arthritis is a chronic disease, causing pain, swelling and irreversible deformity of the joints. We propose to investigate the immune cell environment that drives this disease. In particular, we will focus on a new type of cell called Tph cells and related immune pathways. We will also study how they may be used as therapeutic targets or as markers to monitor disease activity. Our findings may translate into clinical practice and form a basis for new therapeutic strategies.
Nanoengineered Bioelectronic Systems For All-Optical Control Of Neuron Growth And Stimulation
Funder
National Health and Medical Research Council
Funding Amount
$757,452.00
Summary
Nerve cells are the primary signal carriers of the human body. When they cease to function normally, our bodies ability to function and sense the physical world is influenced catastrophically. We will develop a new bioelectronic system made by printing clever inks that can artificially stimulate nerve cells without the typical requirements for invasive metal electrodes or external power. These new scientific advances will revolutionize nerve cell repair and treatment of neurological disorders.
Intergenerational Impacts Of Paternal Immune Activation On Brain Function And Dysfunction
Funder
National Health and Medical Research Council
Funding Amount
$997,690.00
Summary
We recently discovered that infection of male mice with a parasite (Toxoplasma gondii) before conception can change the epigenetic information in the sperm and alter behaviour of the offspring. This is the first evidence that pathogenic infection in males can affect the next generation. We will investigate how infection with other major pathogens, including bacteria and the virus causing COVID-19, may affect sperm epigenetics and offspring health, including their brain function and dysfunction.
Predicting Clozapine Treatment Response In Psychotic Illness
Funder
National Health and Medical Research Council
Funding Amount
$721,526.00
Summary
Not everyone with a psychotic illness gets better when treated with standard antipsychotic medication. We aim to better understand why some people need a different medicine (clozapine), and to develop methods that will let us identify those people early and monitor how effective the treatment is.
Establishing The Neural Basis Of Auditory-verbal Hallucinations In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$563,020.00
Summary
Auditory-verbal hallucinations (AVH) - or hearing voices when no one is talking - are characteristic and debilitating symptoms of schizophrenia. AVH have been hypothesized to reflect inner speech being misperceived as external speech. Our research team has developed an objective brain marker of inner speech. We will use this marker to determine whether AVH are caused by abnormal inner speech in people with schizophrenia. Findings will inform treatments for this incapacitating disorder.
Narcolepsy With Cataplexy: A Brain Orexin Replacement Strategy
Funder
National Health and Medical Research Council
Funding Amount
$810,784.00
Summary
Narcolepsy with cataplexy is a debilitating, life-long sleep-wake disorder, caused by the irreversible loss of the brain peptide 'orexin'. There is no satisfactory and safe treatment. We aim to develop an orexin analogue, delivered directly to the brain of sheep (relevant in size and translatable to patients) by a programmable pump to timely activate the orexin 'wake-up' switch. This innovative precision medicine project will significantly improve the quality of life of narcolepsy patients.
Creating A Phenotypic Catalogue Of Synaptic Vesicle Cycling Disorders
Funder
National Health and Medical Research Council
Funding Amount
$876,975.00
Summary
Developmental disorders affect 2-5% of children. In order to understand how these mutations will likely affect neurological function in these individuals, and to develop a tailored care and treatment program, we must first understand how these mutations affect neuronal communication. This research program will identify the underlying cause of neurological dysfunction in a subset of these disorders (synaptic vesicle cycle disorders), affecting 1200-3000 children in Australia alone.
The Future In Our Hands: Screening For Preclinical Alzheimer's Disease By Analysing Hand Movements
Funder
National Health and Medical Research Council
Funding Amount
$899,782.00
Summary
Alzheimer's disease (AD) starts damaging the brain 10-20 years before memory problems begin. By the time of diagnosis, it is hard to treat because the damage is so severe. We need a way to detect AD much earlier. We will develop a simple new computer test to detect early signs of AD by recording and analysing hand movements. Then people can start prevention earlier and scientists can research better treatments to improve people's quality of life and reduce the number of people with dementia.