grant

Examining the role of INPP5E in human disease [ 2013 - 2015 ]

Also known as: The role of a novel lipid phosphatase in embryo development and kidney disease.

Research Grant

[Cite as http://purl.org/au-research/grants/nhmrc/1046174]

Researchers: Prof Christina Mitchell (Principal investigator) ,  A/Pr Ian Smyth Dr Jennifer Dyson

Brief description Ciliopathies are an emerging group of syndromes in society that have devastating health effects. Ciliopathy patients exhibit a specturm of disorders including polycystic kidneys, extra digits, retinal degeneration and neural tube defects. INPP5E is a gene that is mutated in patients with a ciliopathy syndrome. These studies will determine the role of INPP5E in ciliopathy disease and may identify INPP5E as a novel treatment target.

Funding Amount $AUD 624,429.36

Funding Scheme Project Grants

Notes Standard Project Grant

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