Team

Dra. Roser Gonzàlez-Duarte

Founder

 

Roser received her Ph.D. in Biology (Molecular Genetics) from the University of Barcelona and did her postdoctoral training at the University of Edinburgh. She is Full Professor in Genetics at the Universitat of Barcelona. She has been deeply involved in the tuition of molecular genetics to faculty students and has gained recognition as the Chairman of the Department of Genetics and Director of the Masters’ degree in Biotechnology. She was elected President of the Spanish Genetic Society. For over the last two decades she has led a research team devoted to the study of the genetic bases of inherited retinal disorders. She is widely recognized for her contributions on novel retinal disease gene identification, development of diagnostic chips, mutation identification associated with hereditary retinal disorders and, recently, the development of highly specific and comprehensive gene panels and exome sequencing strategies for a high diagnostic yield of ocular pathologies. She is a co-founder of DBGen.

Bolinches-Amorós A., León M., Marfany G., Gonzalez R., Erceg S., Lukovic D. (2019) Generation of an iPSC line from a Retinitis Pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. Stem Cell Research (Accepted)

De Castro-Miró M., Tonda R., Marfany G., Cassaroli-Marano R.P., Gonzàlez-Duarte R. (2018). Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Br J Ophthalmol January 25, 2018 (doi: 10.1136/bjophthalmol-2017-311427).

De Castro-Miró M., Tonda R., Escudero-Ferruz P., Andrés R., Mayor-Lorenzo A., Castro J., Ciccioli M., Hidalgo D.A. , Rodríguez-Ezcurra J.J., Farrando J., Pérez-Santonja J.J., Cormand B., Marfany G., Gonzàlez-Duarte R. (2016). Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS One 11(12):e0168966.

Boloc D., Castillo-Lara S., Marfany M., Gonzàlez-Duarte R., Abril J.F. (2015). Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidates. PLoS One. 10(8):e0135307.

Marfany G., Gonzàlez-Duarte R. (2015). Clinical applications of high-throughput genetic diagnosis in retinal dystrophies: present challenges and future directions. World J Med Genet 5(2):14–22.

De Castro-Miró M., Pomares E., Lorés L, Marfany G., Gonzàlez-Duarte R. (2014). Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. PLoS One 9(2):e88410.

Fathinajafabadi A., Pérez-Jiménez E., Riera M., Knecht E, Gonzàlez-Duarte R. (2014). CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated to microtubules. PLos One 9(2):e87898.

Riera M., Burguera D., Garcia-Fernàndez J., Gonzàlez-Duarte R. (2013). CERKL knockdown causes retinal degeneration in zebrafish. PLos One 8(5):e64048.

Garanto A., Mandal N.M., Egido-Gabás M., Marfany G., Fabriàs G., Anderson R.E., Casas J., Gonzàlez-Duarte R. (2013). Cerkl knockdown mouse retinas show consistent sphingolipid content decrease. Exp Eye Res. 110:96–106.

Perrault I., Estrada-Cuzcano A., Lopez I., Kohl S., Li S., Testa F., Zekveld R., Pomares E., Aboussair N., Banfi S., Delphin N., Den Hollander A., Edelson C., Florijn R., Jeanpierre M., Leowski C., Megarbane A., Munnich A., Ren H., Bergen A., Chen R., Cremers F., Gonzàlez –Duarte R., Koenekoop R., Simonelli F., Wissinger B., Zhang Q., Kaplan J, Rozet J. (2013). Update on RD3 mutations in LCA. PLoS One 8(1):e51622.

Wuxiuer I., Morgunova E., Cols N., Popov A., Karshikoff A., Sylte I., Gonzàlez-Duarte R., Ladenstein R., Winberg J. (2012). An intact eight-membered water chain in short chain dehydrogenases/reductases is essential for enzyme activity. FEBS J. 279(16): 2940–2956.

Garanto A., Vicente-Tejedor J, Riera M., De La Villa-Polo P., Gonzàlez-Duarte R., Blanco-Velasco R., Marfany G. (2012). 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. BBA – Molecular Basis of Disease 1822: 1258–1269.

Pomares E., Burés-Jelstrup A., Ruiz-Nogales S., Corcóstegui B., González-Duarte R., Navarro R. (2012). Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. Invest Ophthalmol Vis Sci. 53(1): 532–537.

Pomares E., Marfany G., Gonzàlez-Duarte R. (2012). High-throughput approaches for the genetic diagnosis of retinal dystrophies. Adv Exp Med Biol. 723:329–335.

Permanyer J., Navarro R., Friedman J., Pomares E., Castro-Navarro J., Marfany G., Swaroop A., Gonzàlez-Duarte R. (2010). Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature trucation in PROM1. Invest Ophthalmol Vis Sci. 51:2656–2663.

Pomares E., Riera M., Permanyer J., Mendez P., Castro-Navarro, J., Andrés-Gutiérrez, A., Marfany, G., Gonzàlez-Duarte, R. (2010). Comprehensive SNP-chip for Retinitis Pigmentosa-Leber Congenital Amaurosis diagnosis: new mutations and detection of mutational founder effects. Eur J Hum Genet. 18(1):118–124.

Pomares E., Riera M., Castro-Navarro J., Andrés-Gutiérrez A., Gonzàlez-Duarte R., Marfany G. (2009). Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 50:5107–5114.

Persson B., Bray J., Bruford E., Dellaporta S.L., Favio A., González-Duarte R., Jörnvall H., Yvonne Kallberg Y., Kavanagh K.L., Kedishvili N., Kisiela M., Maser E., Mindnich R., Orchard S., Penning T.M., Thornton J., Adamski J., Oppermann U. (2009). The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative. Chemical Biological Interactions 178(1-3):94–98.

Tuson M., Garanto A., Gonzàlez-Duarte R., Marfany G. (2009). Overexpression of CERKL, a gene responsible for Retinitis Pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. Mol Vis. 15:168–180.

Brea-Fernández A., Pomares E., Brion M.J., Marfany G. Blanco M.J., Salorio M., Gonzàlez-Duarte R.,  Carracedo A. (2008). Novel mutation in MERTK gene (IVS16+1G>T) detected through a high-throughput SNP multiplexing microarray, causes Retinitis Pigmentosa. Brit. J. Ophthalmol. 92:1419–1423.

Dra. Gemma Marfany

Founder and Associate Director

 

Gemma is an Associate Professor of Genetics of the University of Barcelona (UB) Spain, specialized in molecular and human genetics, human genome, genetic diagnosis, and gene therapy. Her career as human molecular geneticist is the result of her scientific development in Barcelona, Edinburgh and Oxford Universities. She is currently the principal investigator of a research group focused on the genetic diagnosis of inherited visual disorders and the functional analysis of candidate genes in cell and animal models. She contributes to scientific divulgation weekly and is also involved in several Committees of Bioethics. She is head of the CIBERER U-718 unit, and member of IBUB (Institut de Biomedicina de la UB) and the Observatory of Bioethics and Law (OBD UB). She has currently published more than 100 articles in international peer-reviewed journals, including books and book chapters. She is a co-founder and CSO of DBGen.

Bolinches-Amorós, A., León, M., del Buey Furió, V., Marfany, G., Gonzàlez-Duarte, R., Erceg, S., & Lukovic, D. (2019). Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. Stem Cell Research, 101455.

Trigueros, S., Domènech, E. B., Toulis, V., & Marfany, G. (2019). In Vitro Gene Delivery in Retinal Pigment Epithelium Cells by Plasmid DNA-Wrapped Gold Nanoparticles. Genes10(4), 289.

De Castro-Miró M., Tonda R., Marfany G., Cassaroli-Marano R.P., Gonzàlez-Duarte R. (2018). Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Br J Ophthalmol January 25, 2018 (doi: 10.1136/bjophthalmol-2017-311427).

Marfany G. (2017). Genoma i exoma clínic (WGS i WES): retorn dels resultats genètics sol·licitats, quan, com i per què? Treballs de la Societat Catalana de Biologia. 67:33–37.

De Lecuona I., Casado M., Marfany G., López-Baroni M.J., Escarrabill M. (2017). Gene editing in humans: Towards a global and inclusive debate for responsible research. Yale Journal of Biology and Medicine 90:673–681.

Albuixech-Crespo B., Herrera-Úbeda C., Marfany G., Irimia M., Garcia-Fernàndez J. (2017). Origin and evolution of the chordate central nervous system: insights from amphioxus genoarchitecture. International Journal of Developmental Biology 61:655–664.

De Castro-Miró M., Tonda R., Escudero-Ferruz P., Andrés R., Mayor-Lorenzo A., Castro J., Ciccioli M., Hidalgo D.A. , Rodríguez-Ezcurra J.J., Farrando J., Pérez-Santonja J.J., Cormand B., Marfany G., Gonzàlez-Duarte R. (2016). Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS One 11(12):e0168966.

Toulis V., Garanto A., Marfany G. (2016). Combining zebrafish and mouse models to test the function of deubiquitinating enzyme (Dubs) genes in development: Role of USP45 in the retina. Methods Mol Biol. 1449:85–101.

Masoumi, K.C., Marfany, G., Wu, Y., Masoumi, R. (2016). Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer. Future Oncology 12:565–574.

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

Boloc D., Castillo-Lara S., Marfany M., Gonzàlez-Duarte R., Abril J.F. (2015). Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidates. PLoS One. 10(8):e0135307.

Marfany G., Gonzàlez-Duarte R. (2015). Clinical applications of high-throughput genetic diagnosis in retinal dystrophies: present challenges and future directions. World J Med Genet 5(2):14–22.

Abad-Morales V., Domènech E.B., Garanto A., Marfany G. (2015). mRNA expression analysis of the SUMO pathway genes in the adult mouse retina. Biology Open 4(2):224–32.

De Castro-Miró M., Pomares E., Lorés L, Marfany G., Gonzàlez-Duarte R. (2014). Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. PLoS One 9(2):e88410.

Garanto A., Mandal N.M., Egido-Gabás M., Marfany G., Fabriàs G., Anderson R.E., Casas J., Gonzàlez-Duarte R. (2013). Cerkl knockdown mouse retinas show consistent sphingolipid content decrease. Exp Eye Res. 110:96–106.

Garanto A., Vicente-Tejedor J, Riera M., De La Villa-Polo P., Gonzàlez-Duarte R., Blanco-Velasco R., Marfany G. (2012). 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. BBA – Molecular Basis of Disease 1822:1258–1269

Blount J.R., Burr A.A., Denuc A., Marfany G., Todi S.V. (2012). Ubiquitin-specific protease USP25 functions in endoplasmic reticulum-associated degradation. PLoS One 7–5.

Irimia M., Denuc, A., Ferran J.L., Pernaute B., Puelles L., Roy S.W., Garcia-Fernàndez J., Marfany, G. (2012). Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova 1. RNA Biol. 9(1):12–21.

Pomares E., Marfany G., Gonzàlez-Duarte R. (2012). High-throughput approaches for the genetic diagnosis of retinal dystrophies. Adv Exp Med Biol. 723:329–335.

Garanto A., Riera M., Pomares E., Permanyer J., De Castro-Miró M., Sava F., Abril J., Marfany G., Gonzàlez-Duarte, R. (2011). High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. Invest Ophthalmol Vis Sci. 52: 5202–5214.

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. (2011). Stepwise assembly of the nova-regulated alternative splicing network in the vertebrate brain. Proc. Nat. Acad. Sci. USA 108:5319–5324.

Permanyer J., Navarro R., Friedman J., Pomares E., Castro-Navarro J., Marfany G., Swaroop A., Gonzàlez-Duarte R. (2010). Autosomal recessive Retinitis Pigmentosa with early macular affectation caused by premature trucation in PROM1. Invest Ophthalmol Vis Sci. 51:2656–2663.

Pomares E., Riera M., Permanyer J., Mendez P., Castro-Navarro, J., Andrés-Gutiérrez, A., Marfany, G., Gonzàlez-Duarte, R. (2010). Comprehensive SNP-chip for Retinitis Pigmentosa-Leber Congenital Amaurosis diagnosis: new mutations and detection of mutational founder effects. Eur J Hum Genet. 18(1):118–124.

Denuc A., Marfany G. (2010). SUMO and ubiquitin paths converge. Biochem. Soc. Trans. 38:34–39.

Denuc A., Bosch-Comas A., Gonzàlez-Duarte R., Marfany G. (2009). The UBA-UIM domains of USP25 regulate the enzyme ubiquitination state and modulate substrate recognition. PLoS One 4(5):e5571.

Pomares E., Riera M., Castro-Navarro J., Andrés-Gutiérrez A., Gonzàlez-Duarte R., Marfany G. (2009). Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 50:5107–5114.

Tuson M., Garanto A., Gonzàlez-Duarte R., Marfany G. (2009). Overexpression of CERKL, a gene responsible for Retinitis Pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. Mol Vis. 15:168–180.

Brea-Fernández A., Pomares E., Brion M.J., Marfany G. Blanco M.J., Salorio M., Gonzàlez-Duarte R.,  Carracedo A. (2008). Novel mutation in MERTK gene (IVS16+1G>T) detected through a high-throughput SNP multiplexing microarray, causes Retinitis Pigmentosa. Brit. J. Ophthalmol. 92, 1419–1423.

Dr. Ricardo P Casaroli-Marano

External Consultant Ophthalmologist

 

Ricardo Casaroli received his MD degree at the School of Medicine of FCMSC of Sao Paulo, Brazil. PhD in Cellullar Pathology at University of Barcelona (Spain). He did his ophthalmology training at the Barraquer Institute (Barcelona) and was Assistant Etrangé at the Université Réné Descarte, Centre National d’Ophtalmologie des Quinze-Vingts (Paris, France). Master degree in Immunology and Master degree in Data Analysis in Health Sciences. He is a senior consultant at Hospital Clinic de Barcelona as clinical retinal pathology specialist and his research focuses on cell-based therapies. He is research director of the Barcelona Tissue Bank (BST–Generalitat de Catalunya) and Chairman of the Department of Surgery at the School of Medicine at the UB.

Freitas-Simoes T.M., Cofán M., Blasco M.A., Soberón N., et al. (2018). The red blood cell proportion of arachidonic acid relates to shorter leukocyte telomeres in Mediterranean elders: A secondary analysis of a randomized controlled trial. Clin Nutr., doi: 10.1016/j.clnu.2018.02.011.

De Castro-Miró M., Tonda R., Marfany G., Cassaroli-Marano R.P., Gonzàlez-Duarte R. (2018). Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Br J Ophthalmol January 25, 2018 (doi: 10.1136/bjophthalmol-2017-311427).

Martínez García de la Torre R.A., Nieto-Nicolau N., Morales-Pastora A., Casaroli-Marano R.P. (2017). Determination of the culture time point to induce corneal epithelial differentiation in induced pluripotent stem cells. Transplant Proc. 49:2292–2295.

Silva L.M.P., Arantes T.E., Casaroli-Marano R., Vaz T., Belfort R. Jr, Muccioli C. (2017). Quality of Life and psychological aspects in patients with visual impairment secondary to uveitis: A clinical study in a tertiary care hospital in Brazil. Ocul Immunol Inflamm 11:1–9.

Delas B., Julio G., Fernández-Vega Á., Casaroli-Marano R.P., Nadal J. (2017). Reduction of foveal bulges and other anatomical changes in fellow eyes of patients with unilateral idiopathic macular hole without vitreomacular pathologic changes. Graefes Arch Clin Exp Ophthalmol. 255:2141–2146.

Rajaram S., Valls-Pedret C., Sabaté J., Cofan M., Serra-Mir M., et al. (2017). The Walnuts and Healthy Aging study (WAHA): Protocol for a nutritional intervention trial with walnuts on brain aging. Front Aging Neurosci. 10,8:333.

Nieto-Nicolau N., Martínez-Conesa E.M., Casaroli-Marano R.P. (2016). Limbal stem cells from aged donors are a suitable source for clinical application. Stem Cells Int  2016:3032128.

Mazoteras P., Quiles M.G., Bispo P.J.M., Höfling-Lima A.L., Pignatari A.C., Casaroli-Marano R.P. (2016). Analysis of intraocular lens biofilms and fluids after long-term uncomplicated cataract surgery. Am J Ophthalmol. 69:46–57.

Mazoteras P., Casaroli-Marano R.P. (2015). In vitro biofilm distribution on the intraocular lens surface of different biomaterials. J Cat Refrac Surg 41:1980–1988.

Nadal J., Kudsieh B., Casaroli-Marano R.P. (2015). Scleral fixation of posteriorly dislocated intraocular lenses by 23-gauge vitrectomy without anterior segment approach. J Ophthalmol. 2015:391619.

Fraccaroli A., Pitter B., Taha A., Seebach J., Huveneers S., Kirsch J., Casaroli-Marano R., et al. (2015). Endothelial alpha-parvin controls integrity of developing vasculature and is required for maintenance of cell-cell junctions. Circ Res 117:29–40.

Verdaguer P., Gris O., Casaroli-Marano R.P., Elies D., et al. (2015). Intraocular lens opacification after endothelial keratoplasty as analyzed by environmental scanning electron microscopy. Cornea 34:972–975.

Casaroli-Marano R.P., Nieto-Nicolau N., Martínez-Conesa E.M., Edel M., Álvarez-Palomo A.B. (2015). Potential role of induced pluripotent stem cells (IPSCs) for cell-based therapy of the ocular surface. J Clin Med 4:318–342.

Keller J., Giralt J., Alforja S., Casaroli-Marano R.P. (2015). Altering the clinical course of Sorsby Fundus Dystrophy with the use of anti-vascular endothelial growth factor intraocular therapy. Retin Cases Brief Rep. 9:104–5.

Mazoteras P., Bispo P.J., Hölfling-Lima A.L., Casaroli-Marano R.P. (2015). DNA extraction methods for ocular fluids applied to eubacterial and panfungal PCR detection. Curr Eye Res 40:697–706.

Casaroli-Marano R.P., Sousa-Martins D., Martínez-Conesa E.M., Badaró E., et al. (2015). Dye solutions based on Lutein and Zeaxanthin: In vitro and in vivo analysis of ocular toxicity profiles. Curr Eye Res. 40:707–18.

Zarbin M.A., Casaroli-Marano R.P., Rosenfeld P.J. (2014). Age-related macular degeneration: clinical findings, histopathology and imaging techniques. Dev Ophthalmol. 53:1–32.

Casaroli-Marano R., Gallego-Pinazo R., Fernández-Blanco, Figueroa M.S., et al. (2014). Age-related macular degeneration: Clinical findings following treatment with anti-angiogenic drugs. J Ophtahlmol. 2014:346360.

Pelegrín L., Casaroli-Marano R., Antón J., García de Vicuña M.C., et al. (2014). Predictive value of selected biomarkers, polymorphisms, and clinical features for Oligoarticular Juvenile Idiopathic Arthritis-associated Uveitis. Ocul Immunol Inflamm 22:208–212.

Silva R., Axer-Siegel R., Eldem B., Guymer R., et al. SECURE Study Group. (2013). The SECURE study: long-term safety of ranibizumab 0.5 mg in neovascular age-related macular degeneration. Ophthalmology 120:130–139.

Casaroli-Marano R.P., Nieto-Nicolau N., Martínez-Conesa E.M. (2012). Progenitor cells for ocular surface regenerative therapy. Ophtahlmic Res. 49:115–121.

Monés J., Trindade F., Biarnés M., Casaroli-Marano R.P. (2012). FUSION regimen: ranibizumab in treatment-naïve patients with exudative age-related macular degeneration and relatively good baseline visual acuity. Graefes Arch Clin Exp Ophthalmol. 250:1737–1744.

Giralt J., Rey A., Villanueva R., Alforja S., Casaroli-Marano R.P. (2012). Severe visual loss in a breast cancer patient on chemotherapy. Med Oncol. 29:2567–2569.

Martinez-Conesa E, Espel E, Reina M, Casaroli-Marano RP. (2012). Characterization of ocular surface epitelial and progenitor cell markers in human adipose stromal cells derived from lipoaspirates. Invest Ophthalmol Vis Sci. 53:513–520.

Alforja M.S., Sabater N., Giralt J., Adán A., Pelegrín L., Casaroli-Marano R. (2011). Intravitreal bevacizumab injection for peripheral exudative hemorrhagic chorioretinopathy. Jpn J Ophthalmol. 55:425–427.

Casaroli-Marano R.P. et al. (Reading Commite for SEE Study Group). (2011). Prevalence of age-related macular degeneration in Spain. Spanish Eyes Epidemiological (SEE) Study Group. Br J Ophthalmol. 95:931–936.

Dr. Miquel Tuson Segarra

Business development manager

 

Miquel received his degree in Biology at the University of Barcelona and has a PhD in Biology (specialty in Genetics) from the same university with a thesis on inherited retinal dystrophies, which contributed to the identification of the CERKL gene. He was a postdoctoral researcher at the Sloan-Kettering Institute in New York (2006-2010), investigating the role of genes encoding cilia-associated proteins during early embryonic development of the mouse central nervous system. Since 2011, he has worked as a geneticist in different genetics and biotechnology companies, focusing in pharmacogenetics applications within the healthcare sector. His expertise includes business development, marketing and sales management in the biotechnology sector.

Ielmini M., Poloni N., Caselli I., Espadaler J., Tuson M., Grecchi A., Callegari C. (2018). The utility of pharmacogenetic testing to support the treatment of bipolar disorder. Pharmgenomics Pers Med. 16;11:35–42.

Pérez V., Salavert A., Espadaler J., Tuson M., Saiz-Ruiz J., Sáez-Navarro C., Bobes J., Baca-García E., Vieta E., Olivares J.M., Rodriguez-Jimenez R., Villagrán J.M., Gascón J., Cañete-Crespillo J., Solé M., Saiz P.A., Ibáñez Á., de Diego-Adeliño J.; AB-GEN Collaborative Group, Menchón J.M. (2017). Efficacy of prospective pharmacogenetic testing in the treatment of major depressive disorder: results of a randomized, double-blind clinical trial. BMC Psychiatry. 14;17(1):250.

Espadaler J., Tuson M., Lopez-Ibor J.M., Lopez-Ibor F., Lopez-Ibor M.I. (2017). Pharmacogenetic testing for the guidance of psychiatric treatment: a multicenter retrospective analysis. CNS Spectr. 22(4):315–324.

Tuson M., He M., Anderson K.V. (2011). Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube. Development. 138(22):4921–4930.

Ocbina P.J., Tuson M., Anderson K.V. (2009). Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. PLoS One. 31;4(8):e6839.

Tuson M., Garanto A., Gonzàlez-Duarte R., Marfany G. (2009). Overexpression of CERKL, a gene responsible for Retinitis Pigmentosa in humans, protects cells from apoptosis induced by oxidative stress. Mol Vis. 15: 168–180.

Gonzàlez-Duarte R., Tuson M., Marfany G. (2006). Ceramide, ceramide kinase and vision defects: a blind spot for lipids. In Sphingolipid Biology, 337–344. Springer, Tokyo (Book chapter).

Tuson M., Marfany G., Gonzàlez-Duarte R. (2004). Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am J Hum Genet. 74(1):128–138.

Hjelmqvist L., Tuson M., Marfany G., Herrero E., Balcells S., Gonzàlez-Duarte R. (2002). ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biol. 3(6):RESEARCH0027.

Mònica Vilas

Communication and Management Officer

 

Mònica received her Master’s degree in Music and Communication at the University of Barcelona and her bachelor’s degree in Audiovisual Communication at the Autonomous University of Barcelona. She is specialized in graphic design, corporate communication, social networks, client services, administrative management and organization. She has gained international experience in Portugal, United States, Canada and Spain.

Dra. Rebeca Valero

Research and Innovation Manager

 

 

Rebeca Valero received her PhD in Biology (speciality in Genetics) from the University of Barcelona. She was awarded with the extraordinary PhD prize. She has worked in Hospital Sant Joan de Déu in Barcelona as head of the Molecular Genetic service. She has a wide career teaching in the health care field. Besides, she has a solid experience in basic research as well as in the knowledge of pioneering methodologies applied to the genetic diagnosis of hereditary vision disorders.

Rebeca Valero, Marta de Castro-Miró, Sofía Jiménez-Ochoa, Juan José Rodríguez-Ezcurra,Gemma Marfany and Roser Gonzàlez-Duarte. Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome. Genes 2019, 10(10), 732.

Della Ragione F; Tiunova A; Vacca M; Strazzullo M; González E; Armstrong J; Valero R; Campanile C; Pineda, M; Hulten M; Monrós E; D’Esposito M; Prokhortchouk E. The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. Gene. 24 – 373, pp. 84 – 89. 2006.

Nobuhiko Okamoto; Rolando Del Maestro; Rebeca Valero; Eugènia Monrós; Pilar Poo; Yonehiro Kanemura; Mami Yamasaki. Hydrocephalus and Hirschusprung’s disease with a mutation of L1CAM,. Journal of Human Genetics. 49, pp. 334 – 337. 2004.

Rebeca Valero Gils; Anna Bosch Comas; Olga González Angulo; Roser Gonàlez Duarte; Gemma Marfany Nadal. Identification and functional characterization of USP25, a ubiquitin-specific protease. Proc. XII International Congress on Genes, Gene families and Isozymes. 12, pp. 137 – 140. Schnarrenberger & B. Wittmann-Liebold. Monduzzi Editore,Bologna, 2003.

Rebeca Valero Gils; Monica Bayés; Olga González Angulo; M. Francisca Sánchez Font; Roser González Duarte; Gemma Marfany. Characterization Of Alternatively Spliced Products And Tissue-Specific Isoforms Of Usp28 And Usp25. Genome Biology. 2 – 10

Rebeca Valero; Gemma Marfany; Rosario Gil; Angelines Ibáñez; Félix Prieto; Gaspar Rul.lan; Enric Sarret; Roser Gonzàlez Duarte. Molecular characterization of partial chromosome 21 aneuploidies by fluorescent PCR. Journal of medical genetics. 36 – 9, pp. 694 – 699. 1999.

Rebeca Valero Gils; Gemma Marfany; Olga Gonzàlez Angulo; Gertrudis González González; Luis Puelles; Roser Gonzàlez Duarte. USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene poor-region 21q11.2.Genomics. 62, pp. 395 – 405. 1999.

Gemma Marfany; Jurgen Del Favero; Rebeca Valero; Chris De Jonghe; Sarah Woodrow; Lydia Hendriks; Christine Van Broeckhoven; Roser Gonzàlez Duarte. Identification of a Drosophila Presenilin homologue: evidence of alternatively spliced forms. Journal of Neurogenetics. 12, pp. 41 – 52. 1998.

Gema Blasco

Senior Laboratory Manager

Dra. Laia Carreté

Bioinformatics Scientist

 

Laia Carreté received her degree in Biology at University of Girona and she obtained a Master’s degree in Genetics and Cell biology at Autonomous University of Barcelona. She has a PhD in Bioinformatics at Centre for Genomic Regulation and University Pompeu Fabra. Besides her great knowledge about next generation sequencing, she has a huge experience in genomics, with especial interest in structural variants.

Carreté L, Ksiezopolska E, Gomez-Molero E, Angoulvant A, Bader O, Fairhead C, Gabaldón T. Genome comparisons of Candida glabrata serial clinical isolates reveal patterns of genetic variation in infecting clonal populations. Frontiers in Microbiology 2019. doi: 10.3389/fmicb.2019.00112

Carreté L, Ksiezopolska E, Pequeroles C, Gómez-Molero E, Saus E, Iraola-Guzmán S, Loska D, Bader O, Fairhead C, Gabaldón T. Patterns of Genomic Variation in the Opportunistic Pathogen Candida glabrata Suggest the Existence of Mating and a Secondary Association with Humans. Current Biology , 2018. doi: 10.1016/j.cub.2017.11.027.

Gabaldón T, Carreté L. The birth of a deadly yeast: tracing the evolutionary emergence of virulence traits in Candida glabrataFEMS Yeast Res 2016. doi: 10.1093/femsyr/fov110.

Figueras A, Robledo D, Corvelo A, Hermida M, Pereiro P, Rubiolo JA, Gómez-Garrido J, Carreté L, Bello X, Gut M, Gut IG, Marcet-Houben M, Forn-Cuní G, Galán B, García JL, Abal-Fabeiro JL, Pardo BG, Taboada X, Fernández C, Vlasova A, Hermoso-Pulido A, Guigó R, Álvarez-Dios JA, Gómez-Tato A, Viñas A, Maside X, Gabaldón T, Novoa B, Bouza C, Alioto T, Martínez P. Whole genome sequencing of turbot (Scophthalmus maximus; Pleuronectiformes): a fish adapted to demersal life. DNA Research 2016 doi: 10.1093/dnares/dsw007.