CE12 - Génétique, génomique et ARN

Congenital microcoria a rare disease model to study ocular development and glaucoma – MCORGLAUC

Submission summary

Congenital microcoria (MCOR) is a rare autosomal dominant disease characterized by unreactive pinhole pupils lacking iris dilator muscle (DM). Open angle glaucoma (OAG) and high myopia (HM) are frequently associated with this condition. Our work disclosed unanticipated complex mechanisms linked with 3D regulation of a transcription factor as the cause of this ocular disease. This decorrelation between MCOR, OAG and HM makes MCOR a highly valuable model to analyze both the development of the iris and the mechanisms of common OAG and HM. Furthermore, our preliminary data disclosed a novel pathway we will characterize using our animal models. In addition to the novelty of our hypothesis we shall combine analysis in mouse and chick models, as well as additional patients. Furthermore, our studies will cover different tissues and different developmental stages to unravel a complex mechanism linked with 3D regulation of gene expression.

Project coordination

Jean-Michel ROZET (IHU IMAGINE - INSTITUT DES MALADIES GÉNÉTIQUES)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

IMAGINE IHU IMAGINE - INSTITUT DES MALADIES GÉNÉTIQUES
Neuro-PSI Institut des Neurosciences Paris Saclay

Help of the ANR 484,015 euros
Beginning and duration of the scientific project: December 2020 - 36 Months

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