Molecular genetics of retinal inherited dystrophies

Institute of Biomedicine (IBUB)

Dept. de Genètica, Microbiologia i Estadística
Edifici Prevosti, 2n pis
Avda. Diagonal 643
08028 Barcelona

e-mail: gmarfany@ub.edu
Telf: 93 4021502

Principal investigator: Gemma Marfany Nadal Post-doc CIBERER: Serena Mirra PhD Students: Vasileios Toulis • Elena B. Domènech • Izarbe Aísa Marín • Rodrigo Arenas Galnares

CIBER group                        UB group

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Current
Research

Our research is focused on the genetic and molecular basis of inherited retinal dystrophies (IRDs). One of our lines of research is the genetic diagnosis of families to identify new candidate genes and mutations, particularly mutations located within introns that cause aberrant splicing events. On the other hand, we are also performing the functional analysis of several IRD genes to elucidate their physiological role in health and disease. To this end, we have generated: 1) cell models to overexpress and silence IRD genes; 2) zebrafish and mouse animal models, including knockout and knockin mice by cre-loxP modification and of late, by CRISPR/Cas9 editing, and 3) retinal organoids (eyecups) differentiated from iPSCs derived from human patients. We aim to study the morphological and electrophysiological phenotypic alterations of the retinas in the animal models, identify the altered metabolic pathways, and study the effect on basic cell mechanisms of photoreceptors and other retinal neurons, such as the intracilliary trafficking, mitochondrial dynamics, the regulation of autophagy and apoptosis. Very recently, we are collaborating with a nanotechnology group to explore the plausibility of retinal gene therapy using nanoparticles.

Selected
Publications

Tuson, M.; Marfany, G.; Gonzàlez-Duarte, R. Mutation of CERKL, a novel Human ceramide kinase gene, causes autosomal recessive Retinitis Pigmentosa (RP26). Am. Journal Human Genetics 74(11):28 – 138 (2004).

Irimia, M.; Denuc, A.; Burguera, D.; Somorjai, I.; Martín-Durán, J.; Genikovich, G.; Jiménez-Delgado, S.; Technau, U.; Roy, S.; Marfany, G.; Garcia-Fernàndez, J. Stepwise assembly of the nova-regulated alternative splicing network in the vertebrate brain. Proc. Nat. Acad. Sci. USA (PNAS) 108:5319-24 (2011).

Garanto A.; Vicente-Tejedor J.; Riera M.; De la Villa P.; Gonzalez-Duarte R.; Blanco R.; Marfany G. The use of alternative promoters turns a targeted knockout of the Retinitis Pigmentosa gene Cerkl into a knockdown with mild affectation of the retinal ganglion cell layer. Biochim. Biophys Acta-Molecular Basis of Disease 1822:1258-69 (2012).

Esquerdo, M.; Grau-Bové, X., Garanto, A.; Toulis, V.; Garcia-Monclús, S.; Millo, E.; López-Iniesta, Mª J.; Abad-Morales, V.; Ruiz-Trillo, I; Marfany, G. Expression atlas of the deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles. PLoS One 11(3): e0150364 (2016).

Castro-Miró, M.; Tonda R.; Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R. Novel mutations in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. British Journal Ophthalmology 102(10):1378-1386 (2018).

Selected
Publications

Author

Identification

Tuson, M.; Marfany, G.; Gonzàlez-Duarte, R. Mutation of CERKL, a novel Human ceramide kinase gene, causes autosomal recessive Retinitis Pigmentosa (RP26). Am. Journal Human Genetics 74(11):28 – 138 (2004)

 

Author

Identification

Irimia, M.; Denuc, A.; Burguera, D.; Somorjai, I.; Martín-Durán, J.; Genikovich, G.; Jiménez-Delgado, S.; Technau, U.; Roy, S.; Marfany, G.; Garcia-Fernàndez, J. Stepwise assembly of the nova-regulated alternative splicing network in the vertebrate brain. Proc. Nat. Acad. Sci. USA (PNAS) 108:5319-24 (2011)

 

Author

Identification

Garanto A.; Vicente-Tejedor J.; Riera M.; De la Villa P.; Gonzalez-Duarte R.; Blanco R.; Marfany G. The use of alternative promoters turns a targeted knockout of the Retinitis Pigmentosa gene Cerkl into a knockdown with mild affectation of the retinal ganglion cell layer. Biochim. Biophys Acta-Molecular Basis of Disease 1822:1258-69 (2012)

 

Author

Identification

Esquerdo, M.; Grau-Bové, X., Garanto, A.; Toulis, V.; Garcia-Monclús, S.; Millo, E.; López-Iniesta, Mª J.; Abad-Morales, V.; Ruiz-Trillo, I; Marfany, G. Expression atlas of the deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles. PLoS One 11(3): e0150364 (2016)

 

Author

Identification

Castro-Miró, M.; Tonda R.; Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R. Novel mutations in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. British Journal Ophthalmology 102(10):1378-1386 (2018)