Gemma Marfany

Our group has focused on genetic diagnosis and search of new causative genes for genetic blindness for the last 25 years. At present, we use exome massive sequencing (WES) and target sequencing of gene panels, attaining 80% genetic diagnosis.

On the other hand, we have created several mouse models of Retinitis pigmentosa using CRISPR/Cas9 on Cerkl and Nr2e3, two IRD genes. We are currently performing the phenotypic characterization of the retina of these models, mostly focusing on the regulation of mitochondrial dynamics and the stress response (Cerkl) as well as in chromatin structure and transcription of downstream target genes (Nr2e3). These murine models will allow us to elucidate the physiological function of these genes and test therapeutic strategies. In collaboration with other centers of research (CIPF and ICFO), we generated optical cups from hiPSCs of patients and control individuals, thereby generating a human model to study the origin and progression of the pathology due to specific visual gene mutations, in combination with high resolution microscopy studies in in vivo and in vitro samples.

Our group is also involved in the identification of other genetic factors that may contribute to retinal dystrophies by regulating the function of cilia in photoreceptors via ubiquitin and/or SUMO conjugation. We already have several functional candidates (USP22, USP48, ATXN3) that are currently being analyzed in zebrafish and mouse.

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