Fisiologia retinal i ceguesa hereditària
We focus our research on the first step of vision. We study the biochemical mechanisms that underlie the light response in photoreceptor cells of the retina; and the light-adaptation mechanisms that allow our visual system to operate in the widely varying illumination of the natural world. We work on deciphering how gene defects in these processes lead to different forms of inherited blindness. Our goal is to develop novel therapeutic strategies for inherited retinal disorders (IRDs) that affect 1 in 3.000 individuals and are still an unmet medical need. We combine mouse genetic techniques [DNA editing by CRISPR/Cas9 to generate stable lines; in vivo DNA electroporation after subretinal injection to generate transient transgenics] with rigorous histological, biochemical and electrophysiological analysis, in both fundamental research and translational studies. We assess visual function in mice by electroretinography, a means of recording the light responses of rods and cones. For more focused protein studies, enzymatic assays, or analytical determinations by LC-MS, we also use bovine retina preparations or recombinant proteins.
- Ana Méndez Zunzunegui, Professora Agregada contractada IP i Responsable del grup mendezzu@ub.edu
- Xavier Vallvé i Martínez, PhD student xvallve@ub.edu
- Emma Cerrato Valtueña, PhD student emmacerrato@ub.edu
