COMPREHENSIVE ANALYSIS OF GENETIC FACTORS PREDISPOSING TO GENOMIC DISORDERS. DIGEORGE/VELOCARDIOFACIAL SYNDROME AS A STUDY MODEL (Q3171576): Difference between revisions
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(Created claim: summary (P836): RESEARCH ON GENOMIC DISORDERS AND RARE DISEASES HAS MAINLY FOCUSED ON CLINICAL DIAGNOSIS. HOWEVER, KNOWLEDGE OF THE MOLECULAR CAUSES GENERATED BY THESE ANOMALIES IS ALSO A FUNDAMENTAL ASPECT FOR DETERMINING THE UNDERLYING CAUSES OF THESE GENETIC PATHOLOGIES. The PROJECT PRESENTATE COMBIN INVESTIGATION BASIC AND INVESTIGATION APPLICED TO CLINICAL AND IS OF CHARACTER NEWS WITH RESPECT TO EXPERIMENTAL TECHNICAL AND Methodologies AND THE PUBLICATIO...) |
(Changed label, description and/or aliases in en: translated_label) |
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COMPREHENSIVE ANALYSIS OF GENETIC FACTORS PREDISPOSING TO GENOMIC DISORDERS. DIGEORGE/VELOCARDIOFACIAL SYNDROME AS A STUDY MODEL | |||
Revision as of 18:00, 12 October 2021
Project Q3171576 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | COMPREHENSIVE ANALYSIS OF GENETIC FACTORS PREDISPOSING TO GENOMIC DISORDERS. DIGEORGE/VELOCARDIOFACIAL SYNDROME AS A STUDY MODEL |
Project Q3171576 in Spain |
Statements
54,450.0 Euro
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108,900.0 Euro
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50.0 percent
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30 December 2016
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29 December 2020
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UNIVERSIDAD AUTONOMA DE BARCELONA
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41°29'27.71"N, 2°8'15.00"E
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08266
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LA INVESTIGACION SOBRE TRASTORNOS GENOMICOS Y ENFERMEDADES RARAS SE HA DIRIGIDO PRINCIPALMENTE AL DIAGNOSTICO CLINICO. NO OBSTANTE, EL CONOCIMIENTO SOBRE LAS CAUSAS MOLECULARES QUE GENERAN ESTAS ANOMALIAS TAMBIEN ES UN ASPECTO FUNDAMENTAL PARA LA DETERMINACION DE LAS CAUSAS SUBYACENTES DE ESTAS PATOLOGIAS GENETICAS. EL PROYECTO PRESENTADO COMBINA INVESTIGACION BASICA E INVESTIGACION APLICADA A LA CLINICA Y ES DE CARACTER NOVEDOSO CON RESPECTO A LAS TECNICAS Y METODOLOGIAS EXPERIMENTALES Y A LA POBLACION DE ESTUDIO A LA QUE SE DIRIGE._x000D_ LA VERTIENTE DE INVESTIGACION BASICA, PERMITIRA PROFUNDIZAR EN EL CONOCIMIENTO DE LOS MECANISMOS MOLECULARES Y LOS FACTORES IMPLICADOS EN LA APARICION DE TRASTORNOS GENOMICOS. LOS RESULTADOS DERIVADOS DEL DESARROLLO DEL PROYECTO PERMITIRAN CARACTERIZAR LAS CAUSAS GENETICAS ASOCIADAS A LA INESTABILIDAD DE LA REGION 22Q11.2 Y SU EFECTO SOBRE LA CONSTITUCON CROMOSOMICA DE LOS GAMETOS._x000D_ LA VERTIENTE APLICADA A LA CLINICA SE DIRIGE A EVALUAR LA EXISTENCIA DE VARIACIONES HAPLOTIPICAS Y GENOTIPICAS QUE PERMITAN IDENTIFICAR INDIVIDUOS QUE PRESENTEN UNA MAYOR SUSCEPTIBILIDAD A TENER DESCENDENCIA AFECTA. LOS RESULTADOS OBTENIDOS TENDRAN UNA CLARA POSIBILIDAD DE TRANSFERENCIA, QUE SE PODRA CONCRETAR A CORTO PLAZO CON EL ESTABLECIMIENTO DE RELACIONES GENOTIPO-RIESGO. POR OTRA PARTE, SE INTENTARAN DETERMINAR FACTORES GENETICOS QUE PUEDAN RELACIONARSE CON LAS MANIFESTACIONES Y SEVERIDAD DE LA PATOLOGIA._x000D_ ES IMPORTANTE REMARCAR QUE EL SINDROME DG/VCF SE HA ESCOGIDO COMO MODELO DE ESTUDIO PERO CONSIDERAMOS QUE LOS RESULTADOS OBTENIDOS SERAN EXTRAPOLABLES A OTRAS ENTIDADES CROMOSOMICAS CON ARQUITECTURAS GENOMICAS SIMILARES QUE APARECEN IMPLICADAS EN OTROS TRASTORNOS GENOMICOS._x000D_ EL INTERES DE LOS ESPECIALISTAS, GENETISTAS CLINICOS, EN LA INVESTIGACION PROPUESTA VIENE REFRENDADO POR LA ADHESION AL PROYECTO DE PROFESIONALES DE CENTROS HOSPITALARIOS Y LABORATORIOS ESPECIALIZADOS. ES DE ESPERAR QUE ESTA INVESTIGACION TRASLACIONAL (UNIVERSIDAD AUTONOMA DE BARCELONA-CENTROS HOSPITALARIOS) REPERCUTA POSITIVAMENTE EN EL ASESORAMIENTO GENETICO QUE RECIBEN LAS FAMILAS. (Spanish)
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RESEARCH ON GENOMIC DISORDERS AND RARE DISEASES HAS MAINLY FOCUSED ON CLINICAL DIAGNOSIS. HOWEVER, KNOWLEDGE OF THE MOLECULAR CAUSES GENERATED BY THESE ANOMALIES IS ALSO A FUNDAMENTAL ASPECT FOR DETERMINING THE UNDERLYING CAUSES OF THESE GENETIC PATHOLOGIES. The PROJECT PRESENTATE COMBIN INVESTIGATION BASIC AND INVESTIGATION APPLICED TO CLINICAL AND IS OF CHARACTER NEWS WITH RESPECT TO EXPERIMENTAL TECHNICAL AND Methodologies AND THE PUBLICATION OF STUDY TO THIS DIRECTIVE._x000D_ THE VERTIENT OF BASIC RESEARCH, it will allow to develop in the knowledge of the Molecular Mechanisms and FACTORS involved in the APARICTION of Genomic Trastornos. The resulting results of the development of the project will allow to characterise the GENETIC CAUSES associated with the unrest of the 22Q11.2 and its effect on the chromosomal constipation of the GAMETS._x000D_ THE VERTIENT APPLICED TO CLINICAL APPLICATION TO THE EXISTANCE OF VARIATIONS halotopics and genotypics that allow them to identify INDIVIDIES that present a greater susceptibility to having AFECTIVE DESCENDENCE. THE RESULTS OBTAINED WILL HAVE A CLEAR POSSIBILITY OF TRANSFER, WHICH CAN BE REALISED IN THE SHORT TERM WITH THE ESTABLISHMENT OF GENOTYPE-RISK RELATIONSHIPS. For another part, attempts will be made to deter GENETIC FACTORS that may be linked to the manuals and reliability of the pathology._x000D_ It is important to point out that the DG/VCF SINDROME has been identified as a model of the state of affairs but we can see that the results will be extrapolated to other countries. ENTITIES CROMOSOMIC WITH SIMILAR GEnomicAL ARCHITECTURES APPLICED IN OTHER GENOMIC TRASTORS._x000D_ THE INTEREST OF SPECIALISTS, CLINIC genetists, IN THE PROPERTY INVESTIGATION REFERRED TO THE PROJECT OF PROFESSIONALS OF HOSPITALARY CENTRES AND SPECIALISED LABORATORIES. IT IS TO BE HOPED THAT THIS TRANSLATIONAL RESEARCH (UNIVERSIDAD AUTONOMA DE BARCELONA-HOSPITAL CENTERS) WILL HAVE A POSITIVE IMPACT ON THE GENETIC ADVICE RECEIVED BY FAMILIES. (English)
12 October 2021
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Cerdanyola del Vallès
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Identifiers
SAF2016-77165-P
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