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Dissecting The Molecular Mechanisms Underlying Muscle Pathology In Duchenne Muscular Dystrophy (DMD)
Funder
National Health and Medical Research Council
Funding Amount
$375,856.00
Summary
Duchenne Muscular Dystrophy (DMD) is a genetic disease affecting 1-3,500 newborn males worldwide annually. The disease is characterized by muscle wasting, subsequently resulting in fatality in the late teens to the late 20's. To date there is no cure and treatments are aimed improving quality of life. This project focuses on examining the mechanisms behind the disease to ultimately gain a better understanding in order to develop more effective therapies for the treatment of DMD.
Identification Of Genes For Non-syndromic Intellectual Disability And Walker-Warburg Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$399,984.00
Summary
Mental retardation (MR) affects 3% of people and the cause is still largely unknown. Walker-Warburg syndrome (WWS) is an inherited cause of severe MR that also includes eye and muscle disease. Recent studies suggest that there are at least ten WWS genes. This project will identify MR and WWS genes by searching for gene alteration (mutations) that affected families have in common. Knowledge of the genetic causes will lead to better understanding of normal brain development and therapies.
Cognitive And Social Functioning Of Children With Genetic Disorders
Funder
National Health and Medical Research Council
Funding Amount
$167,131.00
Summary
Significant medical advances have been made in the medical management of genetic conditions in children. Currently, very limited information is available on the cognitive and social consequences of genetic disorders in children despite the links to quality of life, learning and mental health. This project will provide detailed information on cognitive and social function associated with two types of genetic disorders. The findings will be of significant value to those who care for these children ....Significant medical advances have been made in the medical management of genetic conditions in children. Currently, very limited information is available on the cognitive and social consequences of genetic disorders in children despite the links to quality of life, learning and mental health. This project will provide detailed information on cognitive and social function associated with two types of genetic disorders. The findings will be of significant value to those who care for these children including parents, clinicians and teachers.Read moreRead less
Disease Gene Discovery And Improved Genetic Diagnosis In Neuromuscular Disorders
Funder
National Health and Medical Research Council
Funding Amount
$473,321.00
Summary
Paediatric nerve and muscle disorders result in weakness, chronic disability and often early death. Over half of all affected children do not yet have a genetic diagnosis. This project will use advanced sequencing technology to increase genetic diagnosis rates and identify new disease-causing genes. This will result in improved patient care and a better understanding of the biological pathways altered by these disorders. It will also facilitate the identification of targets for future therapies.