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SAF2008-00357

Financiado

IDENTIFICACION DE NUEVAS FUENTES DE VARIACION GENOMICA QUE AFECTAN LA SUSCEPTIBI...

IDENTIFICACION DE NUEVAS FUENTES DE VARIACION GENOMICA QUE AFECTAN LA SUSCEPTIBILIDAD A ENFERMEDADES HUMANAS FRECUENTES THE GENETIC CAUSES OF DISEASE (GCD) GROUP FOCUSES ITS RESEARCH ON THE STUDY OF NUCLEOTIDE AND GENOMIC VARIABILITY OF THE HUMAN GENOME AND ITS CONTRIBUTION TO THE PREDISPOSITION TO COMMON DISEASES, THE GROUP HAS MADE PROGRESS IN TH... ver más

01/01/2008

FUNDACIO PRIVADA C...

908K€

Presupuesto del proyecto: 908K€

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FUNDACIO PRIVADA CENTRE DE REGULACIO GENOMICA Otras actividades deportivas asociacion

TRL 4-5 | 50K€

Financiación concedida El organismo AGENCIA ESTATAL DE INVESTIGACIÓN notifico la concesión del proyecto el día 2008-01-01 No tenemos la información de la convocatoria

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Líder del proyecto

FUNDACIO PRIVADA CENTRE DE REGULACIO GENOMICA Otras actividades deportivas asociacion

TRL 4-5 | 50K€

Presupuesto del proyecto 908K€

Descripción del proyecto THE GENETIC CAUSES OF DISEASE (GCD) GROUP FOCUSES ITS RESEARCH ON THE STUDY OF NUCLEOTIDE AND GENOMIC VARIABILITY OF THE HUMAN GENOME AND ITS CONTRIBUTION TO THE PREDISPOSITION TO COMMON DISEASES, THE GROUP HAS MADE PROGRESS IN THE IDENTIFICATION OF SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) AND COPY NUMBER VARIANTS (CNVS) ASSOCIATED TO SEVERAL DISORDERS WITH SPECIAL EMPHASIS ON PSYCHIATRIC DISEASES (EATING DISORDERS, DEPRESSION, ANXIETY AND OBSESSIVE COMPULSIVE DISORDER, AMONG OTHERS), THE GROUP IS ALSO EXPLORING THE CONTRIBUTION OF NON-CODING RNAS (AND THEIR TARGET GENES) TO THE SUSCEPTIBILITY TO DISEASE, MAINLY NEURODEGENERATIVE DISORDERS, DURING THE PROPOSED FUNDING PERIOD THE WORK OF THE GCD GROUP WILL EXPLORE IN DEPTH GENETIC FACTORS INVOLVED IN COMMON DISORDERS; DEVELOP AND ANALYZE FUNCTIONAL BIOMARKERS OF PREDISPOSITION, EXPOSURE, AND EARLY DAMAGE IN COMPLEX DISEASES; AND EVALUATE THE PATHOGENIC MECHANISMS THAT CAUSE COMMON HUMAN DISEASE, BIOMARKERS UNDER ANALYSIS WILL INCLUDE SNPS IN CODING AND NON-CODING REGIONS, NON-CODING RNAS (MAINLY MIRNAS), STRUCTURAL VARIANTS (MAINLY CNVS), AND EPIGENETIC CHANGES, PROPOSED OBJECTIVES RELEVANT TO THIS PROJECT ARE: A/ TO EXPLOIT THE POTENTIAL OF DIFFERENT TYPES OF GENOMIC ANALYSIS (STRUCTURAL VARIANTS; METHYLATION VARIANTS; RARE SNPS; AND NON-CODING RNAS); B/ TO DISCOVER DISEASE-SUSCEPTIBILITY GENES THROUGH INTEGRATED ANALYSES OF DIFFERENT TYPES OF HUMAN GENOMIC VARIATION; C/ TO EXPLORE KEY METHODOLOGICAL QUESTIONS RELEVANT TO RESEARCH IN THIS AREA (INCLUDING ENVIRONMENTAL HETEROGENEITY FOR GENE DISCOVERY AND THE ALLELIC ARCHITECTURE OF COMMON DISEASE); D/ TO APPLY THE OBTAINED KNOWLEDGE TO THE UNDERSTANDING OF THE BASIS OF NEUROLOGICAL DISORDERS THAT ARE UNDER INVESTIGATION IN THE GCD (MAINLY EATING DISORDERS, OBSESSIVE COMPULSIVE DISORDER, MAJOR DEPRESSION, AND NEURODEGENERATIVE DISEASE), WE WILL USE STATE OF THE ART TECHNOLOGIES TO CHARACTERIZE GENOMIC REGIONS THAT CONTAIN CNVS ASSOCIATED TO HUMAN DISORDERS, NEW HIGH-THROUGHPUT SEQUENCING TECHNOLOGIES WILL BE USED TO CHARACTERIZE REGIONS THAT CONTAIN COMMON CNVS AND TO DEFINE PROFILES OF NON-CODING RNAS AND EPIGENETIC CHANGES THAT COULD BE RELEVANT TO HUMAN DISEASE, FUNCTIONAL STUDIES WILL EXPLORE THE PHYSIOLOGICAL RELEVANCE OF THE NEWLY IDENTIFIED GENOMIC VARIABILITY USING IN VITRO AND IN VIVO EXPERIMENTAL MODELS, THE PROPOSED RESEARCH SHOULD IDENTIFY NOVEL ETIOLOGICAL PATHWAYS, WITH POTENTIAL FOR PHARMACEUTICAL EXPLOITATION, AND NOVEL SUSCEPTIBILITY VARIANTS AND BIOMARKERS, WITH POTENTIAL FOR DIAGNOSTICS AS WELL AS IN GUIDING THE DEVELOPMENT OF THERAPEUTIC STRATEGIES, Variantes de número de copia (CNVs)\polimorfismos de nucleótido único (SNPs)\RNAs no codificantes\enfermedades comunes\epigenética\enfermedades neuro-psiquiátricas\enfermedades neuro-degenerativas\RNAs que interaccionan con PIWI (piRNAs)\micro RNAs (miRNAs)

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