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Genética y genómica de enfermedades raras

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dc.contributorBuitrago Medina, Daniel Alejandro
dc.contributor.advisorRestrepo Fernández, Carlos Martin
dc.contributor.gruplacGENIUROS
dc.creatorSotaquirá Guáqueta, Paula Andrea
dc.creator.degreeEspecialista en Pediatría
dc.creator.degreeLevelMaestría
dc.creator.degreetypeFull time
dc.date.accessioned2024-05-03T21:52:14Z
dc.date.available2024-05-03T21:52:14Z
dc.date.created2024-04-17
dc.date.embargoEndinfo:eu-repo/date/embargoEnd/2026-05-04
dc.descriptionEl 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.
dc.description.abstractThe 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.
dc.format.extent43 pp
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.48713/10336_42503
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/42503
dc.language.isospa
dc.publisherUniversidad del Rosario
dc.publisher.departmentEscuela de Medicina y Ciencias de la Salud
dc.publisher.programEspecialización en Pediatría
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International*
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dc.rights.accesoRestringido (Temporalmente bloqueado)
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dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectEnfermedades raras
dc.subjectCausas genéticas
dc.subjectGenómica
dc.subjectEstudio molecular
dc.subject.keywordRare diseases
dc.subject.keywordGenetic causes
dc.subject.keywordGenomics
dc.subject.keywordMolecular study
dc.titleGenética y genómica de enfermedades raras
dc.title.TranslatedTitleGenetics and genomics of rare diseases
dc.typebachelorThesis
dc.type.documentTrabajo de grado
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaInforme de investigación
local.department.reportEscuela de Medicina y Ciencias de la Salud
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