The Risks Of Thin Basement Membrane Nephropathy (TBMN)
Funder
National Health and Medical Research Council
Funding Amount
$253,500.00
Summary
Our aims are to save the $10 million spent on inappropriate investigations in TBMN each year by the Australian community; to identify and treat individuals with TBMN at risk of renal impairment in order to delay the onset of kidney failure; to understand the underlying disease mechanisms in order to develop specific treatments; and to contribute to the development of a diagnostic assay for TBMN that flags mutations associated with renal impairment and includes a screening test for modifying gene ....Our aims are to save the $10 million spent on inappropriate investigations in TBMN each year by the Australian community; to identify and treat individuals with TBMN at risk of renal impairment in order to delay the onset of kidney failure; to understand the underlying disease mechanisms in order to develop specific treatments; and to contribute to the development of a diagnostic assay for TBMN that flags mutations associated with renal impairment and includes a screening test for modifying genes. The proposed project will change the practice of clinicians by providing evidence for our clinical definition of TBMN and reduce the need for renal biopsies and other investigations thus saving the Australian community up to $10 million annually. demonstrate that a peripheral retinopathy distinguishes between TBMN and X-linked Alport syndrome. This will be a major advance in the diagnosis of Alport syndrome too. determine how often individuals with persistent haematuria who have proteinuria >500 mg-day or renal impairment actually have TBMN. identify the genetic risk factors for renal impairment in TBMN in both the genes directly responsible for TBMN as well as in the modifying genes. determine the mechanisms by which genetic mutations and modifying genes in TBMN cause disease and predispose to renal impairment. Understanding these mechanisms is the first step in the development of specific treatments.Read moreRead less
This research program aims to gain a detailed understanding of the organisation of the cell surface at the molecular level. The cell surface is organised into domains with distinct functions. Visualisation of these domains, identifying their important components, and understanding how they form and function will have huge importance for therapeutic strategies aimed at combatting the changes associated with cell transformation in cancer and in other human diseases such as muscular dystrophy.
Membrane Attachment And Components Of The Ca2+ -triggered Release Mechanism
Funder
National Health and Medical Research Council
Funding Amount
$386,498.00
Summary
Understanding and harnessing the fundamental cellular process of secretion will provide a wealth of new approaches to addressing problems associated with aging & disorders that are major health care burdens (e.g. neurodegeneration & diabetes). Understanding the vesicle docked state, and the contributions of different molecular components to the release process provides for unique insights into the underlying molecular mechanisms, thereby enabling safe, targeted control of this critical process.