The Role Of The Frem Proteins In Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$475,517.00
Summary
Rare genetics diseases can often provide us with insights into some of the fundamental mechanisms which control how we develop and live healthy lives. We have identified a family of genes called the Fras and Frem genes and some of these are mutated in a disorder called Fraser Syndrome. Fraser Syndrome patients have profound defects in the normal development of their skin and kidneys. We are studying the function of these genes with a view to understanding not just how Fraser Syndrome develops, b ....Rare genetics diseases can often provide us with insights into some of the fundamental mechanisms which control how we develop and live healthy lives. We have identified a family of genes called the Fras and Frem genes and some of these are mutated in a disorder called Fraser Syndrome. Fraser Syndrome patients have profound defects in the normal development of their skin and kidneys. We are studying the function of these genes with a view to understanding not just how Fraser Syndrome develops, but how our organs develop normally. The genes involved in FS contribute to the extracellular matrix which is effectively the scaffolding which our cells use when developing into our organs. The extracellular matrix is also important in maintaining our adult tissues and responding to damage. It can act as a physical support and as a key controller of how ours cells react to growth factors and to each other. This proposal will explore how the Fras and Frem genes mediate these interactions to control normal development and also to determine how their mutation gives rise to disease. In doing so we hope to gain insights into more common diseases which affect both the kidney and the skin.Read moreRead less
Function Of Flightless I In The Skin Blistering Disorder Epidermolysis Bullosa
Funder
National Health and Medical Research Council
Funding Amount
$578,796.00
Summary
Skin blistering disorders are painful and debilitating. They can lead to permanent scarring and may be life threatening within two years of birth. No specific cure exists. Our previous studies have identified the important role of Flii in wound healing. We now aim to investigate the potential function of Flii in skin blistering disorders. We will also determine whether modulating Flii reduces blister formation. This research could lead to new therapies for treating people with fragile skin.
Developing The Epidemiological Evidence Base For Eczema Prevention
Funder
National Health and Medical Research Council
Funding Amount
$476,728.00
Summary
Eczema, food allergy, asthma and hay-fever are all common conditions that are a substantial burden for individuals and families. To prevent them, we need to know their causes, but these are not yet well understood. We need better studies to identify what is causing our children to develop these allergic diseases, and rigorous studies to prevent them. In this fellowship, I will explore the causes and consequences of these conditions and test ways to prevent children from developing them.
Identification Of Factors Critical For Maintenance Of The Epidermal Barrier
Funder
National Health and Medical Research Council
Funding Amount
$616,950.00
Summary
The human skin plays a crucial role in the body’s defence against our hostile environment. The outer most layer of the skin, the epidermis is the key structural component of the skin barrier and is essential for its integrity. We have identified a family of genes that are pivotal for epidermal barrier formation, maintenance and repair. This project examines the mechanisms that underpin the function of this family, and has broad ramifications in a host of dermatological conditions.
Topical Drug Delivery Based On Porous Silicon Nanoneedles
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
There are currently a number of new drugs that can only be administered through the skin via hypodermic needles, which is costly, invasive and carries the risk of infection spread. This project proposes to develop an alternative strategy based on skin patches covered in millions of microscopic porous needles. These needles are able to puncture the skin painlessly to provide rapid and minimally-invasive administration of drugs for treatment of skin diseases, such as melanoma or psoriasis.
Identification Of Critical Factors For The Establishment And Maintenance Of The Epidermal Barrier
Funder
National Health and Medical Research Council
Funding Amount
$671,424.00
Summary
The human skin plays a crucial role in the body’s defence against our hostile environment. The outer most layer of the skin, the epidermis is essential for formation and repair of the skin barrier. We have identified a family of genes that are pivotal for skin development and function. Disruption of these genes has disastrous consequences, including loss of barrier function and the development of skin cancers. This project examines how these diseases occur.
Development Of A Novel MicroRNA Mimic For Cancer Treatment
Funder
National Health and Medical Research Council
Funding Amount
$534,179.00
Summary
Liver cancer is a major health burden globally, with a very poor prognosis. New treatments are urgently needed. We have developed proof-of-concept data showing that a tiny RNA, called a microRNA, is a powerful inhibitor of liver cancer growth. We will use this grant application to further develop the microRNA with novel chemistry so that it can be readily translated into early phase clinical trials in the near future.