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leaD reSearcHer
Marfany Nadal, Gemma
Universidad de Barcelona
Facultad de Biología. Diagonal, 643
08028 Barcelona
(+34) 93 402 15 02 [email protected] group website
GROUP MEMBERS
Staff members: Andrés Ventura, María Rosa
Associated members: De Castro Miró, Marta | González Duarte, Roser
Main lines of research
Unit U718
Since I am a PI, my research has been focused on the field of human molecular genetics, and I have been closely collaborated with the group of Dr. Gonzàlez-Duarte, with whom we have co-supervised 6 PhD Theses, and co-authored many articles. Our research group was first committed to find new human genes on chromosome 21, putatively involved in the Down syndrome. As a result, we identified USP25, a new gene on chromosome 21 that encodes a deubiquitinante enzyme. We focused on elucidating its structure, transcriptional products, protein interactions and regulation, producing several rticles and two theses. Other lines or research included the genetic bases of Alzheimer’s disease and diabetes. During the last decade, I have been mainly interested in searching new causative genes of retinal dystrophies. Besides generating a large number of articles, highly cited in the field of molecular genetics vision, we submitted a patent application for the design of a high-throughput chip for retinal dystrophy genetic diagnosis, which has been expanded and is currently used in genetic diagnosis of families with retinitis pigmentosa, Leber congenital amaurosis, achromatopsia, coroidoremia and cone dystrophy. Currently, most of our research goals are focused on both the genetic-molecular diagnosis and the identification of retinal dystrophy genes, as well as in the functional gene analysis either in cell cultures or in generating model organisms, thus generating knockdown (zebrafish), knockout (mouse), and of late, CRISPR-edited mouse models.
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PROGRAMMES
Sensorineural Pathology