Paola Pacheco Fernández
Técnico
Research group
Paola Pacheco has a degree in Biology (2021) and is currently a student of the Master in Human Genetics and Genomics at the University of Barcelona.
She has been trained in the field of human genetics and rare diseases, graduated as a Clinical Laboratory Technician at the Institut Bonanova, and carried out the cycle practices at the Biochemical Genetics-Rett Service of the Sant Joan de Déu Hospital in Barcelona, under directed by Dr. Judith Armstrong. During this period she carried out her end-of-cycle work on "the work of a technician in a genetic laboratory."
Once the cycle was over, she began his Biology career at the University of Barcelona, where she was able to do the Mention in Molecular, Cellular and Systems Biology, doing the practicums and the final degree work in fine-tuning the sequencing and analysis of the mitochondrial genome. in pediatric patients at the Genomics Service of the Sant Joan de Déu Hospital in Barcelona, under the direction of Dr. Dèlia Yubero and Dr. Judith Armstrong.
During her university studies, she began to work as a backup staff at the Hospital San Joan de Déu, in the group of Dr. Armstrong, and she was able to aspire to get a permanent position as a Senior Technician. Since then, in addition to training at the university, she has had the opportunity to attend different training sessions.
Professional network profiles
Last Publications
- 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.
- 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 and Armstrong-Moron J X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. SCIENTIFIC REPORTS . 9(1): 11983-11983.
- Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M and Armstrong-Moron J Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis. Molecular genetics & genomic medicine . 7(8): .
Projects
- Project name:
- Identificación de biomarcadores y dianas terapéuticas a través del análisis integrado de multiómica de la huella molecular del síndrome de Rett y trastornos del neurodesarrollo.
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Armstrong Morón, Judith Silvia, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PI23/00108
- Starting - finishing date:
- 2024 - 2026
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
- Project name:
- Estudio de pacientes dentro del Espectro Rett mediante un enfoque multiómico integrativo: delucidar la huella molecular de la via funcional.
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI20/00389
- Starting - finishing date:
- 2021 - 2024