Research projects

CRISPR-Cas genome edition has become a very important revolution in Biomedicine. Particularly in rare diseases research. Our team pioneered the implementation of CRISPR-Cas technology in Spain for the generation of new animal models (genome edited mice) of rare diseases. Thanks to this we have developed numerous new mice carrying mutations previously diagnosed in patients. For the first time we are capable of faithfully reproducing the very same genetic alteration observed in patients into edited mice, which we called avatar. In our laboratory we have been investigating albinism for more than 25 years. This is a rare genetic condition affecting 1:17,000 people in Spain, featuring a severe visual disability (legal blindness) and variable alterations in pigmentation. We know of 22 types of albinism that are associated with mutations in 21 genes. Over the last years we have generated numerous CRISPR-Cas edited mice as models of the commonest types of non-syndromic albinism. The aim of this project is essentially to functionally phenotype all these mice through behavioral tests (optokinetic test), retinography and histological analyses. And also, we plan to observe whether their vision can be recovered or restored after treating these mice with drugs proposed to albinism therapies, such as L-DOPA or nitisinone. Or after exploring experimental gene therapies. We count on the support of ALBA, the Spanish association in support of people with albinism.