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Study of the molecular bases of hereditary blindness

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : Ana Méndez Zunzunegui

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Research Centre or Institution : Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.


Hereditary retinal dystrophies are disorders which are highly heterogeneous in clinical and genetic terms, and there is currently no cure for them. They affect 15,000 people in Spain, according to the FARPE. To date up to 150 genes have been described which cause retinal dystrophy, illustrating the difficulty of studying these disorders. From a clinical point of view, the challenge is to design treatments to halt retinal degeneration and restore visual function. For this, it is necessary to discover more about the molecular and cellular processes which are altered by mutations in different genes. This project centres on studying the effect in the cell of loss of function mutations in retGC and RD3 (genes GUCY2D and RD3, associated with Leber Congenital Amaurosis, the most severe form of hereditary blindness), and functional gain mutations in proteins GCAP1 and GCAP2 (genes GUCA1A and GUCA1B associated with cone and rod dystrophies). These proteins form the RD3/retGC/GCAPs complex, which is responsible for cGMP synthesis in photoreceptors. Given that cGMP is the second messenger in phototransduction, this complex is absolutely indispensable for visual function. The project will cover the study of the organisation, traffic and different aspects of the in vivo regulation of this complex. This project also aims to develop new murine genetic techniques based on DNA electroporation in vivo to make it possible to accelerate the study of gene function in the retina. Given the complexity of the visual system and the high degree of specialisation of the cone and rod photoreceptor cells and the difficulty of reproducing them in a culture, the development of murine models is extremely useful in gene function studies and when determining the molecular bases of hereditary retinal dystrophies.

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