Project: Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairment

Acronym ImprVision
Duration 01/12/2015 - 30/11/2018
Project Topic Neurodevelopmental visual disorders (NDVD) are relatively frequent, impairing and largely incurable defects that often perturb the overall development of the affected children. Although there is already a wealth of information on how the visual system is built and what are the main molecular determinants that control the formation of its individual components, we know little of how mutations in one genetic component affect the gene networks to which it belongs to. More relevant, there is no information on what are the full consequences that a primary abnormality might have in the remaining connected brain areas. This consortium, composed of five teams with a strong background in developmental neurobiology and a collaborative history, will use cell cultures, mouse, zebrafish models and human samples to investigate the full consequences that genetic defects already known to cause NDVD (i.e. mutations in the transcription factors SOX2 or COUP-TFI) have on the rest of the brain, thus determining the full extent of visual abnormalities. This knowledge will be then translated to patients and further applied to evaluate if cell reprogramming at postnatal stages could improve visual function in NDVD models. We are confident that, if successful, the ambitious goal of ImprovVision will lead the field of NDVD beyond the current state of the art.
Network ERA-NET NEURON II
Call Neurodevelopmental Disorders

Project partner

Number Name Role Country
1 Consejo Superior de Investigacion Cientificas Coordinator Spain
2 Johannes Gutenberg University Mainz Partner Germany
3 Fondazione Istituto Neurologico Carlo Besta Partner Italy
4 UNICE Partner France
5 Consejo Superior de Investigaciones Científicas Partner Spain