Investigating Drug Treatments For A Machado Joseph Disease Using Transgenic Zebrafish
Funder
National Health and Medical Research Council
Funding Amount
$443,425.00
Summary
Machado Joseph disease (MJD) is a hereditary neurodegenerative disease that causes problems with a patient’s co-ordination and movement, leading to paralysis and death. Although the disease affects patients throughout the world, it is most common within Aboriginal communities of Arnhem Land in the Northern Territory. This project seeks to identify a drug treatment for the disease by examining the effect of relevant drugs on zebrafish genetically modified to have the human gene that causes MJD.
Calpeptin, And Related Candidates, For The Treatment Of Machado Joseph Disease
Funder
National Health and Medical Research Council
Funding Amount
$888,040.00
Summary
Machado Joseph Disease (MJD) is a neurodegenerative disease that causes impaired movement and progressive paralysis, leading to patient death. MJD is inherited within families, including a high number of Indigenous families of northeast Arnhem Land. We have identified a possible treatment for MJD that has positive effects on a small animal model of the disease (zebrafish carrying the human MJD gene). We plan to test this treatment further with the aim of developing a treatment for MJD patients.
A Systems Biology Approach To Elucidate Common Principles And Mechanisms Underlying Triplet Repeat Expansion Associated Genetic Defects
Funder
National Health and Medical Research Council
Funding Amount
$1,033,615.00
Summary
Several human genetic diseases that affect the nervous system occur due to expansions of the DNA repeats in the genome. Here, we use a combination of cutting edge technologies such as systems biology and genomics to uncover the common principles and use them to devise novel therapeutic strategies.
RNA-based Expanded Repeat Pathogenic Pathway In Neurodegenerative Diseases
Funder
National Health and Medical Research Council
Funding Amount
$595,153.00
Summary
Many important human genetic diseases (incl Huntington’s Disease) are due to a common mutation mechanism with some similarities in clinical outcome (late in life nerve cell loss). For these diseases it is still not known what mechanism is responsible for causing the disease. This is essential in order to delay onset, slow progression or effect cure. We will test a mechanism for disease pathology that we have identified in a simple model organism and seen evidence of its activity in human disease
Investigating The Pathogenic Mechanisms Of Mutations In The ARX Homeobox Transcription Factor
Funder
National Health and Medical Research Council
Funding Amount
$596,222.00
Summary
Intellectual disability is frequent in the population with as many as 1 in every 50 people in the world directly affected. The cost to Australia of intellectual disability is estimated at $14 billion annually. ARX is one of the most frequent genes mutated in X chromosome linked intellectual disability. Our study will specifically address the functional impact of these mutations using cell models relevant to the brain to better understand the pathways and networks required for normal cognition.