Project: Deconstructing gene regulatory networks for improving sight and brain disabilities

Acronym	Brain4Sight (Reference Number: NEURON_NDD-255)
Project Topic	Neurodevelopmental disorders (NDD) are complex conditions frequently arising from failed developmental processes. NDD display heterogeneous clinical features often including vision defects. Conversely, NDD affecting the visual system (VS) display comorbidities affecting the brain, also with variable degrees and frequencies. This makes NeuroDevelopmental Visual Disorders (NDVD) an excellent paradigm to understand NDD phenotypic variability. This variability is often associated with overlapping phenotypes among different NDVD, which further complicates a genetic diagnosis. By delving into the processes of brain assembly, Brains4Sight seeks to understand the region-specific susceptibility and phenotypic variability that emerges as the consequence of monogenic pathogenic variants in SOX2 and NR2F1. These genes encode transcription factors essential for VS development and their mutated versions are respectively responsible for syndromic anophthalmia/microphthalmia and the BBSOA syndrome. Brains4Sight will employ state-of-the-art genomic technologies, mouse models and human cortical and eye organoids to address the mechanisms underlying the symptoms associated with specific variants of these genes. The knowledge gained will be applied to reprogramme endogenous glia cells into neurons with the long-term aim of reconstructing a healthy VS. Thus, Brains4Sight will provide critical knowledge towards NDVD therapeutics, further impacting genetic consulting and thereby health care
Network	NEURON Cofund2
Call	Neuron Cofund2 Joint Call 2021

Project partner

Number	Name	Role	Country
1	Spanish National Research Council	Coordinator	Spain
2	INSERM	Partner	France
3	Istituto Auxologico Italiano	Partner	Italy
4	University Medical Center Johannes Gutenberg University Mainz	Partner	Germany