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What Contributes To Regional Vulnerability In Neurodegenerative Diseases? A Study Of Familial Cases.
Funder
National Health and Medical Research Council
Funding Amount
$456,655.00
Summary
Unfortunately, as many people live longer, more and more are afflicted by degenerative changes that affect their brain. These neurodegenerative diseases are usually relentlessly progressive and with time render patients incapable of many normal functions. For some families with certain genetic defects, these diseases occur aggressively and early. We would like to study the brains of patients from these families because in most cases the proteins affected by the gene defect have been identified. ....Unfortunately, as many people live longer, more and more are afflicted by degenerative changes that affect their brain. These neurodegenerative diseases are usually relentlessly progressive and with time render patients incapable of many normal functions. For some families with certain genetic defects, these diseases occur aggressively and early. We would like to study the brains of patients from these families because in most cases the proteins affected by the gene defect have been identified. However, despite knowing this important information, the reasons for the death of brain cells are still not understood. This project will provide important new information on which brain cells died in these patients and on the relationship between such cell death and any cellular protein changes. By comparing patients with different genetic defects we will be able to identify the main cellular mechanisms underlying these degenerative changes. This information is essential for the rational design of further experiments aimed at reducing the suffering of all patients with neurodegenerative diseases or at eliminating these diseases altogether.Read moreRead less
Congenital Fibre Type Disproportion (CFTD): Disease Patterns And Pathogenesis Of Muscle Weakness
Funder
National Health and Medical Research Council
Funding Amount
$264,816.00
Summary
Congenital Fibre Type Disproportion (CFTD) is a type of genetic muscle disease that is caused by changes (mutations) in several different genes. Affected children usually have general muscle weakness from birth. We will compare medical findings and muscle MRI scans in different CFTD patients to develop guidelines for the care and diagnosis of CFTD patients. We will also study how gene mutations lead to weakness and the abnormalities seen on the muscle biopsy, focusing on the TPM3 gene.