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.
Investigating The Potential Of Human Stem Cells To Repair The Degenerating Auditory Nerve After Deafness
Funder
National Health and Medical Research Council
Funding Amount
$310,787.00
Summary
One in four Australians is predicted to experience some form of hearing loss by 2050. Hearing loss is irreversible and the chief clinical treatment available for severe to profound hearing loss is a cochlear implant. However, cochlear implant efficacy is limited by the degeneration of the auditory nerve following hearing loss. Using stem cells, this project will develop techniques to restore function to the auditory nerve through replacement of the specialised cells that comprise it.
Regulation Of Dendritic Ion Channels And Its Role In Intrinsic Neuronal Excitability In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$402,810.00
Summary
Nerve cells are able to regulate their activity to maintain the reliable transfer of information between cells. By conducting detailed electrical and chemical analysis of nerve cells this project will increase our understanding of how nerve cells regulate their activity, and provide important information on how this activity may be altered in brain disorders like epilepsy. The results of this research may also lead to the development of new more effective drugs to treat many brain disorders.
Neuronal Copper Homeostasis And The Role Of The Alzheimer Amyloid-Beta Precursor Protein (APP)
Funder
National Health and Medical Research Council
Funding Amount
$287,321.00
Summary
Alzheimer’s disease (AD) is creating a growing burden upon Australian medical resources. Copper plays an important role in the development of AD and drugs designed to adjust brain copper levels are being tested for AD treatment and show therapeutic benefits. This project will determine how copper is involved in AD so that more effective drugs can be developed. Focus will primarily be on copper-binding proteins central to AD and establishing their role in AD development and progression.