Clara Xiol Viñas
Clara Xioal graduated in Biology (2017) and studied a Master in Genetics and Genomics (2018) from the University of Barcelona (UB). Training in the field of human genetics and minority diseases, since 2016 he has been researching on Rett syndrome (RTT).
Between 2016 and 2,018 he carried out the final degree and master projects in the Genetic and Molecular Medicine Service of the SJD Barcelona Children's Hospital under the direction of Dr. Judith Armstrong. During this period, she was involved in the research projects carried out in the hospital on the inactivation of the X chromosome and the alteration of the GABAergic pathway in RTT patients. The results of these studies have been published in indexed journals and at various national conferences (XI Symposium of the Catalan Biological Society, Barcelona, 2018; II Interdisciplinary Congress of Human Genetics, Madrid, 2019) and international (ESGH Conference, Milano, 2018; ESGH Conference, Gothenburg, 2019).
Currently, (2019-2023) she is the beneficiary of a grant FPU (University Teacher Training) granted by the Ministry of Education, Culture and Sports on June 14, 2019. She is enrolled in the UB Doctorate Program in Genetics and is completing her Research work at the same Department of Genetic and Molecular Medicine of the SJD Barcelona Children's Hospital, also under the direction of Dr. Judith Armstrong and Dr. Alfonso de Oyarzábal. His thesis project consists of the genetic diagnosis of unsolved cases of RTT using different Next Generation Sequencing (NGS) technologies: complete exome (WES), complete genome (WGS) and transcriptome (RNAseq) sequencing; as well as the study of molecular alterations at the transcriptome and proteome level in patients of the RTT spectrum (classic RTT, atypical RTT and RTT-like). This study aims to improve the efficiency of genetic diagnosis of patients on the RTT spectrum by means of a multi-omic approach, as well as to deepen the knowledge of the pathophysiology of the disease by considering therapeutic options that can combat the molecular alterations that can be identified in these patients.
- Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J Molecular characterization of Spanish patients with MECP2 duplication syndrome. CLINICAL GENETICS . 97(4): 610-620.
- De Oyarzabal-Sanz AL, Xiol-Viñas C, Castells AA, Grau C, O'Callaghan-Gordo M, Fernández G, Alcántara S, Pineda M, Armstrong-Moron J, Altafaj X and Garcia-Cazorla A Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(2): 518.
- Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M, Armstrong-Moron J and Rett Working Group X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients SCIENTIFIC REPORTS . 9: 11983-11983.