Novel Gene Identification And Characterisation In Epilepsy.
Funder
National Health and Medical Research Council
Funding Amount
$303,964.00
Summary
Epilepsy is a serious neurological disorder affecting up to 5% of the population at some point in their lives. Approximately 70% cases of epilepsy are genetic, but very few of the genes involved have been identified. This project will use state-of-the-art techniques to identify genetic mutations causing an inherited form epilepsy affecting infants. This research is expected to reveal new gene families involved in the genesis of epilepsy and thus new targets for the development of treatments.
Understanding The Cause Of Muscle Weakness In Nemaline Myopathy (NM) – Moving Towards The Development Of Targeted Treatments
Funder
National Health and Medical Research Council
Funding Amount
$408,768.00
Summary
Congenital myopathy patients have unremitting, life-long muscle weakness that severely affects their quality of life and ability to perform normal daily activities. Currently no effective therapies exist for these conditions, largely due to our limited understanding of the mechanisms leading to muscle weakness. This ECF aims to determine the cause of weakness and test two therapies which have shown promise for other conditions and can be translated into clinical use for myopathies if effective.
Mechanism Of Proteotoxic Stress Induced Type I Interferon Signalling And Implications For Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$322,952.00
Summary
All cells have a proteasome system to degrade unwanted proteins. Proteasome dysfunction causes a build-up of proteins that triggers, through an unknown mechanism, activation of the immune system leading to inflammation. People with mutations in genes which code for proteasome activity experience a severe disease known as Proteasome-Associated Autoinflammatory Syndrome. We aim to elucidate the link between protein aggregation and immune activation and employ this knowledge in disease treatment.
Viral Therapy For Skeletal Muscle Alpha-actin Disease And Discovery Of Novel Neuromuscular Disease Genes And Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$324,028.00
Summary
This research project is the next logical step towards treating patients with skeletal muscle actin disease - using viral delivery of normal actin genes in animal models of actin disease. Another arm of this project is to investigate the genetics and mechanisms causing two very different groups of muscle disorders in the Australian population: devastating muscle weakness in the foetal akinesias and enhanced muscle strength and bulk in individuals with strongman syndromes.
Investigating The Genetic Cause Of Genital Abnormalities In Males
Funder
National Health and Medical Research Council
Funding Amount
$299,564.00
Summary
This project investigates the genetic cause of a relatively common defect in male genitalia, hypospadias, in which the penis opening is aberrantly located. Hypospadias affects 1 in ~250 males, usually requires surgery and can cause problems with intercourse and urination. Using new technologies to study patient DNA, we will identify mutations causing hypospadias and new genes involved in development of the male genitalia. This will lead to improved clinical diagnosis and management of patients.
Investigating The Interplay Of Gene And Environment In Childhood And Adolescent Mental Health
Funder
National Health and Medical Research Council
Funding Amount
$386,298.00
Summary
Mental health and substance use disorders account for 60-70% of the overall disease burden among young Australians. This research aims to fully explore the gene-environment interplay in childhood and adolescent mental health. The potential outcomes of this research include: improved understanding of genetic and environmental architecture for single disorder, and the high comorbidity between disorders; guidance for personalised intervention based on one’s genetic background.
Integrated Analysis Of Genome, Epigenome, And Transcriptome Data In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$417,511.00
Summary
Schizophrenia is a severe psychiatric disorder with a diverse range of symptoms. While the cause is unknown, it is thought to develop from a combination of genetic, epigenetic and environmental risk factors. This study will use genome wide approaches to investigate the relationship between genetic/epigenetic modification of DNA and gene expression in schizophrenia. This study could provide an integrated understanding of the neuropathology of schizophrenia and ultimately lead to better treatment.
Discovery And Characterisation Of Long Noncoding RNAs In Human Neurological Disorders
Funder
National Health and Medical Research Council
Funding Amount
$349,647.00
Summary
Numerous regions in our DNA influence how likely we are to develop various diseases, including brain disorders such as Autism and Schizophrenia. However, in many of these regions no genes have been found and they appear “empty”, making it difficult to uncover what’s triggering the disease. This project will use a powerful new technology to discover new genes hidden within these supposedly “empty” regions that are important in brain disorders and investigate how they contribute to disease.
Using Next-generation Sequencing Technology To Explore The Genetic Basis Of Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$278,463.00
Summary
This project will use powerful new DNA sequencing technologies to analyse the genes that underlie common diseases such as diabetes, arthritis and cancer in a large and diverse set of human DNA samples, and to find mutations in Australian patients suffering from rare genetic muscle disorders. This approach will provide novel information about the evolutionary origins and genetic basis of common disease and identify new genes that cause inherited muscle diseases.