1) Genetic and molecular basis of Retinitis Pigmentosa (RP)

Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous disease (1/3000) that is the major cause for hereditary progressive blindness. Up to now, mutations on more than 35 genes cause this disease, yet many more genes await identification. Our group aims to search for novel RP genes in a pannel of autosomal dominant, recessive and X-linked families. First, we assess the contribution of previously reported candidate genes by SNP cosegregation analysis using highthroughput technology. Second, when known candidate genes are discarded and the family pedigree is large enough, we perform linkage studies to define new loci and eventually identify new RP genes. Third, we approach the functional characterisation of the novel RP genes by using a variety of cellular, biochemical and molecular techniques to shed light on the aethiopathology and progression of the disease. Finally, we are undertaking the generation of a knockout mouse model of one RP gene, CERKL, characterised in our group.


Senior researchers
Dr. Roser Gonzàlez-Duarte
Dr. Gemma Marfany


Postdoctoral fellows
Jon Permanyer


PhD students
Esther Pomares
Alejandro Garanto
Marina Riera


Technical staff
Méndez


Collaborators
Dr. Rafael Navarro (Instituto de Microcirugía Oftalmológica, Barcelona)
Dr. Rosa Coco (IOBA, Valladolid)
Dr. Nicolás Cuenca (Universidad de Alicante)
Dr. Fernando Albericio (Parc Científic, Universitat de Barcelona)



2) Functional characterisation of USP25, a ubiquitin-specific protease gene mapped at 21q11.2 and assessment of it s contribution to the Down syndrome phenotype

The most accepted hypothesis on the molecular basis of the Down syndrome (DS) phenotype is that only some of the genes on chromosome 21 are involved in the DS features. Their contribution on the DS phenotype could be either direct, or indirect through their action on genes located on the rest of the genome. Previous work from our group to search for genes on chromosome 21 led to the identification of USP25, a ubiquitin-specific protease, mapping at 21q11.2. We are currently performing the functional characterisation of this gene, particularly focussing on the alternative spliced forns in muscular tissues, looking for pressumptive partners and analysing the effects of its over-expression and knockdown in transfected cells. A better knowledge of the USP25 gene will allow us to assess its contribution to the DS phenotypic traits.


Senior researchers
Dr. Gemma Marfany
Dr. Roser Gonzàlez-Duarte


PhD students
Amanda Denuc


Collaborators
Dr. Lucie Carrier (Hamburg)
Dr. Frauke Melchior (Göttingen)
Dr. Nai Wen-Chi