Research Grant
[Cite as https://purl.org/au-research/grants/nhmrc/123107]Researchers: Prof Denis Crane (Principal investigator)
Brief description A group of human disorders arise from abnormal metabolic function of peroxisomes, small organelles found in the cells of most tissues. These abnormalities are caused by defects in the processes by which peroxisomes are formed in cells, and now known to be due to mutations in peroxisome biogenesis, or PEX, genes. In this project we will identify and assess PEX gene mutations in Australasian patients with these disorders to assist with future clinical diagnosis. In addition, because the mechanisms of disease formation, or pathogenesis, are poorly understood, we will develop animal models of the PBDs that may provide more detailed information about these corresponding processes in humans.
Funding Amount $AUD 185,135.71
Funding Scheme NHMRC Project Grants
Notes Standard Project Grant
- nhmrc : 123107
- PURL : https://purl.org/au-research/grants/nhmrc/123107
