Dra. Marina Riera Gibernau

Transcription

1 Dra. Marina Riera Gibernau Genetics Department, Institute of Ocular Microsurgery (IMO). Post-doctoral researcher for the IMO Foundation. Curriculum Professional Profile Ph.D in Genetics and Master s Degree in Genetics and Developmental Biology from the University of Barcelona. Her speciality is the genetic diagnosis and study of the molecular bases of sight pathologies. She obtained a University Staff Training (FPU) grant at the University of Barcelona and a post-doctoral scholar contract from the Fundació de la Marató de TV3 at the Vall d Hebrón Research Institute (VHIR). She obtained a University Staff Training grant (beca de Formación de Personal Universitario, FPU) at the University of Barcelona to carry out her Ph.D thesis based on the functional study of the genes involved in the retina dystrophies. Subsequently, she obtained an employment contract under the Fundació La Marató de TV3 grant at the Vall d Hebrón Research Institute (VHIR) taking part in diverse projects involving gene and cell therapies focused on retina dystrophies in animal models. Training Biology Degree from the Autonomous University of Barcelona, Master s Degree in Genetics and Developmental Biology from the University of Barcelona, 2008.

2 Animal researcher using test animals for the Generalitat de Catalunya, Doctor in Genetics from the University of Barcelona, Erasmus grant at the University of St Andrews (Scotland, United Kingdom), Bidons Egara cooperation grant at the University of Barcelona, FPU grant at the University of Barcelona, Post-doctoral scholar contract at the Vall d Hebron Research Institute, Research Mass sequencing of exomes for the identification of new genes and variants responsible for retinal dystrophies Identification of new Retina Dystrophy genes and characterisation of genotypephenotype correlations Phase IV clinical trial to evaluate the genetic variants of the VEGF pathway as biomarkers of efficacy of treatment with aflibercept in patients with neovascular agerelated macular degeneration (AMD). BIOIMAGE study Affiliations Association for Research in Vision and Ophthalmology European Society of Human Genetics Publications Riera M., Fontrodona L., Albert S., Mora-Ramirez D., Seriola A., Salas A., Muñoz Y., Ramos D., Villegas-Perez M.P., Zapata M.A., Raya A., Ruberte J., Veiga A., Garcia-Arumi J.: Comparative study of human embryonic stem cells (hesc) and human induced

3 pluripotent stem cells (hipsc) as a treatment for retinal dystrophies. Mol Ther Methods Clin Dev Mar 16;3: Fathinajafabadi A., Pérez-Jiménez E., Riera M., Knecht E. and González-Duarte R.: CERKL, a Retinal Disease Gene, Encodes an mrna-binding Protein That Localizes in Compact and Untranslated mrnps Associated with Microtubules. PLOS ONE 2014; 9(2):1-13. Riera M., Burguera D., Garcia-Fernàndez J. and Gonzàlez-Duarte R.: CERKL knockdown causes retinal degeneration in zebrafish. PLOS ONE 2013; 8(5):1-12. Garanto A., Vicente-Tejedor J., Riera M., de la Villa P., Gonzàlez-Duarte R., Blanco R. and Marfany G.: Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer. Biochim Biophys Acta Aug; 1822(8): Garanto A., Riera M., Pomares E., Permanyer J., de Castro-Miró M., Sava F., Abril J.F., Marfany G. and Gonzàlez-Duarte, R.: High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. Invest Ophthalmol Vis Sci Jul; 52(8): Pomares E., Riera M., Permanyer J., Méndez P., Castro-Navarro J., Andrés-Gutiérrez A., Marfany G., Gonzàlez-Duarte R.: Comprehensive SNP-chip for retinitis pigmentosa- Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. Eur J Hum Genet Jan; 18(1): Pomares E., Riera M., Castro-Navarro J., Andrés-Gutiérrez A., Gonzàlez-Duarte R., Marfany G.: Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci Nov; 50(11): Conferences and courses Riera M. (2016) Discussion Panel. Es real la visión artificial? Opciones para evitar la ceguera en la próxima década. Navarro R., Riera M., Reddish T., Horning R., Ishaque K., Corcostegui B. Instituto de Microcirugia Ocular. Barcelona Riera M. (2016). Poster. Clinical and molecular characterization of the ABCA4- associated dystrophies: novel genotype-phenotype correlations. The European Human Genetics Conference Barcelona.

4 Riera M. (2016). Poster. Towards an improvement of the visual function preservation in RCS rats by transplantation of human stem-cell-derived RPE and photoreceptor precursor cells. ARVO 2016, Annual Meeting. Seattle. USA. Riera M. (2015). Speaker. Gene therapy vs Cell therapy. Jornadas SEEBV (Sociedad Española Especialistas en Baja Visión). Madrid. Riera M. (2015). Poster. Cell therapy with pluripotent stem cells differentiated to retinal pigment epithelium and photoreceptor cells in a rat model of retinitis pigmentosa. ARVO 2015, Annual Meeting. Denver. USA. Riera M. (2014). Poster. Differentiation and transplantation of human ESC and ipscderived RPE cells for the treatment of retinitis pigmentosa. ARVO 2014, Annual Meeting. Orlando. USA. Riera M. (2014). Poster. Retinas from STZ-induced diabetic rats present angiographic and focal ERG alterations as well as anti-angiogenic factors inhibition. ARVO 2014, Annual Meeting. Orlando. USA. Riera M. (2013). Poster. Retinal apoptosis is observed in a knockdown zebrafish model of CERKL, a gene responsible for retinitis pigmentosa and cone-rod dystrophy. CIBERER, 7th Annual Meeting. Madrid. Riera M. (2012). Speaker. Zebrafish as a model of retina degeneration. Study of CERKL knockdown. CIBERER, Neurosensorial Pathology Meeting. Madrid. Riera M. (2012). Poster. Design of polyclonal antibodies and production of CERKL protein involved in retinitis pigmentosa disease. 4th EFIS-EJI South East European Immunology School. Sarajevo. Bosnia and Herzegovina. Riera M. (2012). Poster. CERKL knockdown murine model shows mild affectation of the retinal ganglion cell layer. ARVO 2012, Annual Meeting. Fort Lauderdale. USA. Riera M. (2012). Poster. Retinal apoptosis is observed in a knockdown zebrafish model of CERKL, a gene responsible for retinitis pigmentosa and cone-rod dystrophy. International Society for Eye Research.Berlin. Germany. Riera M. (2011). Speaker. CERKL function studies: construction of a KO model causing retinitis pigmentosa. CIBERER, Neurosensorial Pathology Meeting. Madrid. Riera M. (2011). Poster. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. ARVO 2011, Annual Meeting. Fort Lauderdale. USA.

5 Riera M. (2010). Speaker. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human retina. CIBERER, 4th Annual Meeting. Madrid. Riera M. (2010). Poster. CERKL function and contribution to pathogenesis. 14th International Symposium on Retinal Degeneration. Quebec. Canada. Riera M. (2008). Attendee. Challenges in the diagnosis of Retinitis Pigmentosa. CIBERER, 2nd Annual Meeting. Valencia.