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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.
Fibrosis is a key cause of renal pathology-dysfunction. Relaxin is an endogenous reno-protective factor, and thus has enormous therapeutic potential. However, despite compelling pre-clinical evidence of its efficacy, little is known about relaxin's mechanism of action. These studies will lead to a much better understanding of its signal transduction properties that will allow us to maximise its anti-fibrotic potential; identify new targets for intervention; and design better clinical trials.
We have identified a novel gene, Inpp5e, that when mutated causes a disease similar to Joubert syndrome and MORMS disease which leads to abnormal movements, developmental delays, mental retardation, abnormal breathing and eye movement. We have identified a candidate gene for these diseases and have shown that deletion of this gene in mice results in similar pathology. We aim to determine the mechanism by which Inpp5e regulates human development and disease.