Research Grant
[Cite as https://purl.org/au-research/grants/nhmrc/606402]Researchers: Prof Christina Mitchell (Principal investigator) , A/Pr Ian Smyth , Dr Jennifer Dyson
Brief description 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.
Funding Amount $AUD 689,474.47
Funding Scheme NHMRC Project Grants
Notes Standard Project Grant
- nhmrc : 606402
- PURL : https://purl.org/au-research/grants/nhmrc/606402
