Developmental defects of the visual system in albinism
Dates:January 2, 2018 - June 29, 2018
Application deadline:June 29, 2018
~ Jan-March 2018
~ April-June 2018
Brain function relies on the precise organization of neuronal connections during development. Alterations of any of these steps will have structural and functional consequences. We use the visual system to precisely study the mechanisms that regulate some of these developmental events and this project focuses on a rare disease, albinism, showing clear functional consequences arising from a developmental alteration. In albinism, a defect in melanin production leads to hypopigmentation, a hallmark of this disease, but also to important visual deficits due to abnormal development of the retina. This project aims to characterize the links between melanin production and retinal specification during development and their consequences on neuronal connections and activity within the retina. Furthermore, we will decipher how the albino mutation at the level of the retinal pigmented epithelium impact retinal development. For that, we will use a combination of in vivo approaches in mouse models and in vitro approaches. The student will use immunohistochemistry, fluorescence and confocal microscopy, calcium imaging and videomicroscopy as well as cell culture techniques. This study will shed lights on the pathophysiology of albinism and unravel mechanisms governing normal retinal development and visual neural circuit formation.
Institut du Fer à Moulin - 17 rue du fer à moulin 75005 Paris - +33 1 45 87 61 27 - email@example.com