Genética y genómica de enfermedades raras

El presente informe expone las actividades desarrolladas como asistente de investigación en el Centro de Investigación en Genética y Genómica (CIGGUR), Instituto de Medicina Traslacional (IMT), producto de una contribución activa en diversas fases para la implementación de un proyecto que incluyen:...

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Tipo de recurso:
Fecha de publicación:
2024
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
spa
OAI Identifier:
oai:repository.urosario.edu.co:10336/42503
Acceso en línea:
https://repository.urosario.edu.co/handle/10336/42503
Palabra clave:
Enfermedades raras
Causas genéticas
Genómica
Estudio molecular
Rare diseases
Genetic causes
Genomics
Molecular study
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Attribution-NonCommercial-ShareAlike 4.0 International
id EDOCUR2_cb6ebce4aaee222c47032e1c5fa8dc4d
oai_identifier_str oai:repository.urosario.edu.co:10336/42503
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
dc.title.none.fl_str_mv Genética y genómica de enfermedades raras
dc.title.TranslatedTitle.none.fl_str_mv Genetics and genomics of rare diseases
title Genética y genómica de enfermedades raras
spellingShingle Genética y genómica de enfermedades raras
Enfermedades raras
Causas genéticas
Genómica
Estudio molecular
Rare diseases
Genetic causes
Genomics
Molecular study
title_short Genética y genómica de enfermedades raras
title_full Genética y genómica de enfermedades raras
title_fullStr Genética y genómica de enfermedades raras
title_full_unstemmed Genética y genómica de enfermedades raras
title_sort Genética y genómica de enfermedades raras
dc.contributor.advisor.none.fl_str_mv Restrepo Fernández, Carlos Martín
dc.contributor.gruplac.none.fl_str_mv GENIUROS
dc.contributor.none.fl_str_mv Buitrago Medina, Daniel Alejandro
dc.subject.none.fl_str_mv Enfermedades raras
Causas genéticas
Genómica
Estudio molecular
topic Enfermedades raras
Causas genéticas
Genómica
Estudio molecular
Rare diseases
Genetic causes
Genomics
Molecular study
dc.subject.keyword.none.fl_str_mv Rare diseases
Genetic causes
Genomics
Molecular study
description El presente informe expone las actividades desarrolladas como asistente de investigación en el Centro de Investigación en Genética y Genómica (CIGGUR), Instituto de Medicina Traslacional (IMT), producto de una contribución activa en diversas fases para la implementación de un proyecto que incluyen: la realización de revisiones bibliográficas exhaustivas, la recopilación de datos y diligenciamiento de historias clínicas con anamnesis minuciosas, la correlación fenotipo genotipo mediante la realización de estudios moleculares, así como su análisis detallado, la respectiva interpretación de dichos resultados, el asesoramiento genético y la redacción de artículos e informes técnico-científicos. Las labores desempeñadas durante este proceso y plasmadas en este documento han permitido llevar a cabalidad el objetivo desde el contexto clínico en el rol del pediatra, desde la visión de la genética clínica, de identificar los mecanismos por los cuales se desarrolla la enfermedad, entender las diferentes manifestaciones clínicas y las causas genéticas o genómicas y realizar actividades de prevención mediante el asesoramiento genético; comprendiendo además, que a pesar de la existencia de diferentes actualizaciones en la literatura, aún persisten retos y oportunidades en materia de abordaje, diagnóstico y atención especializada de la población pediátrica.
publishDate 2024
dc.date.accessioned.none.fl_str_mv 2024-05-03T21:52:14Z
dc.date.available.none.fl_str_mv 2024-05-03T21:52:14Z
dc.date.created.none.fl_str_mv 2024-04-17
dc.date.embargoEnd.none.fl_str_mv info:eu-repo/date/embargoEnd/2026-05-04
dc.type.none.fl_str_mv bachelorThesis
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_7a1f
dc.type.document.none.fl_str_mv Trabajo de grado
dc.type.spa.none.fl_str_mv Informe de investigacion
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/42503
url https://repository.urosario.edu.co/handle/10336/42503
dc.language.iso.none.fl_str_mv spa
language spa
dc.rights.*.fl_str_mv Attribution-NonCommercial-ShareAlike 4.0 International
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_f1cf
dc.rights.acceso.none.fl_str_mv Restringido (Temporalmente bloqueado)
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
rights_invalid_str_mv Attribution-NonCommercial-ShareAlike 4.0 International
Restringido (Temporalmente bloqueado)
http://creativecommons.org/licenses/by-nc-sa/4.0/
http://purl.org/coar/access_right/c_f1cf
dc.format.extent.none.fl_str_mv 43 pp
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidad del Rosario
dc.publisher.department.none.fl_str_mv Escuela de Medicina y Ciencias de la Salud
dc.publisher.program.none.fl_str_mv Especialización en Pediatría
publisher.none.fl_str_mv Universidad del Rosario
institution Universidad del Rosario
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on behalf of the Italian Network on Congenital Myopathies; Fiorillo, C.; Astrea, G.; Savarese, M.; Cassandrini, D.; Brisca, G.; Trucco, F.; Pedemonte, M.; Trovato, R.; Ruggiero, L.; Vercelli, L.; D’Amico, A.; Tasca, G.; Pane, M.; Fanin, M.; Bello, L.; Broda, P.; Musumeci, O.; Rodolico, C.; Messina, S.; Vita, G. L.; Sframeli, M.; Gibertini, S.; Morandi, L.; Mora, M.; Maggi, L.; Petrucci, A.; Massa, R.; Grandis, M.; Toscano, A.; Pegoraro, E.; Mercuri, E.; Bertini, E.; Mongini, T.; Santoro, L.; Nigro, V.; Minetti, C.; Santorelli, F. M.; Bruno, C. (2016) MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. En: Orphanet Journal of Rare Diseases. Vol. 11; No. 1; pp. 91 1750-1172; Consultado en: 2024/03/31/03:34:59. Disponible en: http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0476-1. Disponible en: 10.1186/s13023-016-0476-1.
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the Italian Network on Congenital Myopathies; Cassandrini, Denise; Trovato, Rosanna; Rubegni, Anna; Lenzi, Sara; Fiorillo, Chiara; Baldacci, Jacopo; Minetti, Carlo; Astrea, Guja; Bruno, Claudio; Santorelli, Filippo M. (2017) Congenital myopathies: clinical phenotypes and new diagnostic tools. En: Italian Journal of Pediatrics. Vol. 43; No. 1; pp. 101 1824-7288; Consultado en: 2024/04/05/05:16:26. Disponible en: https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z. Disponible en: 10.1186/s13052-017-0419-z.
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spelling Buitrago Medina, Daniel Alejandro79750632600Restrepo Fernández, Carlos Martín3a14a56c-70ee-4d3d-90f5-8310534b5a7e-1GENIUROSSotaquirá Guáqueta, Paula AndreaEspecialista en PediatríaMaestríaFull time8664a3b7-ef1e-4d95-a0e1-7215dce6517d-12024-05-03T21:52:14Z2024-05-03T21:52:14Z2024-04-17info:eu-repo/date/embargoEnd/2026-05-04El presente informe expone las actividades desarrolladas como asistente de investigación en el Centro de Investigación en Genética y Genómica (CIGGUR), Instituto de Medicina Traslacional (IMT), producto de una contribución activa en diversas fases para la implementación de un proyecto que incluyen: la realización de revisiones bibliográficas exhaustivas, la recopilación de datos y diligenciamiento de historias clínicas con anamnesis minuciosas, la correlación fenotipo genotipo mediante la realización de estudios moleculares, así como su análisis detallado, la respectiva interpretación de dichos resultados, el asesoramiento genético y la redacción de artículos e informes técnico-científicos. Las labores desempeñadas durante este proceso y plasmadas en este documento han permitido llevar a cabalidad el objetivo desde el contexto clínico en el rol del pediatra, desde la visión de la genética clínica, de identificar los mecanismos por los cuales se desarrolla la enfermedad, entender las diferentes manifestaciones clínicas y las causas genéticas o genómicas y realizar actividades de prevención mediante el asesoramiento genético; comprendiendo además, que a pesar de la existencia de diferentes actualizaciones en la literatura, aún persisten retos y oportunidades en materia de abordaje, diagnóstico y atención especializada de la población pediátrica.The present report outlines the activities carried out as a research assistant at the Center for Genetics and Genomics Research (CIGGUR), Institute of Translational Medicine (IMT), as a result of active contribution across various phases for the implementation of a project. These activities include: conducting exhaustive literature reviews, collecting and completing medical records with detailed medical histories, correlating phenotype with genotype through molecular studies and their detailed analysis, interpreting these results accordingly, providing genetic counseling, and drafting technical-scientific articles and reports. The tasks performed during this process and documented in this report have allowed for the successful achievement of the objective within the clinical context in the role of the pediatrician, from the perspective of clinical genetics, aiming to identify the mechanisms underlying disease development, understand different clinical manifestations and genetic or genomic causes, and engage in prevention activities through genetic counseling. It is also understood that despite various updates in the literature, challenges and opportunities persist in the approach, diagnosis, and specialized care for the pediatric population.43 ppapplication/pdfhttps://repository.urosario.edu.co/handle/10336/42503spaUniversidad del RosarioEscuela de Medicina y Ciencias de la SaludEspecialización en PediatríaAttribution-NonCommercial-ShareAlike 4.0 InternationalRestringido (Temporalmente bloqueado)EL AUTOR, manifiesta que la obra objeto de la presente autorización es original y la realizó sin violar o usurpar derechos de autor de terceros, por lo tanto la obra es de exclusiva autoría y tiene la titularidad sobre la misma. PARGRAFO: En caso de presentarse cualquier reclamación o acción por parte de un tercero en cuanto a los derechos de autor sobre la obra en cuestión, EL AUTOR, asumirá toda la responsabilidad, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos la universidad actúa como un tercero de buena fe. EL AUTOR, autoriza a LA UNIVERSIDAD DEL ROSARIO, para que en los términos establecidos en la Ley 23 de 1982, Ley 44 de 1993, Decisión andina 351 de 1993, Decreto 460 de 1995 y demás normas generales sobre la materia, utilice y use la obra objeto de la presente autorización. -------------------------------------- POLITICA DE TRATAMIENTO DE DATOS PERSONALES. Declaro que autorizo previa y de forma informada el tratamiento de mis datos personales por parte de LA UNIVERSIDAD DEL ROSARIO para fines académicos y en aplicación de convenios con terceros o servicios conexos con actividades propias de la academia, con estricto cumplimiento de los principios de ley. 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