Optical glioma in neurofibromatosis type1: genetic studies and exosomes analysis for the identification of susceptibility and prognostic biomarkers. (Q3141618): Difference between revisions
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(Created claim: summary (P836): Neurofibromatosis type 1 (NF1) is one of the most common hereditary diseases that predispose to the development of certain benign and malignant tumors in the nervous system and skin. The most prevalent tumor in paediatric patients is grade I optic glioma or pilocytic astrocytoma that develops in the optic nerves or chiasma, producing important morbidity. NF1 is caused by mutations in the NF1 gene, but there is no correlation between genotype and...) |
(Changed label, description and/or aliases in en: translated_label) |
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Optical glioma in neurofibromatosis type1: genetic studies and exosomes analysis for the identification of susceptibility and prognostic biomarkers. | |||
Revision as of 13:17, 12 October 2021
Project Q3141618 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Optical glioma in neurofibromatosis type1: genetic studies and exosomes analysis for the identification of susceptibility and prognostic biomarkers. |
Project Q3141618 in Spain |
Statements
33,250.0 Euro
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66,500.0 Euro
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50.0 percent
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1 January 2016
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31 March 2020
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FUNDACION INVESTIGACION BIOMEDICA HOSPITAL RAMON Y CAJAL
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40°25'0.12"N, 3°42'12.89"W
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28079
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La neurofibromatosis tipo 1 (NF1) es una de las enfermedades hereditarias más frecuentes que predispone al desarrollo de ciertos tumores benignos y malignos, en el sistema nervioso y la piel. El tumor más prevalente en los pacientes pediátricos es el glioma óptico o astrocitoma pilocítico de grado I que se desarrolla en los nervios ópticos o en el quiasma, produciendo importante morbilidad. La NF1 está causada por mutaciones en el gen NF1, pero no existe correlación entre el genotipo y el fenotipo en la práctica totalidad de las variantes patogénicas, y no es posible predecir la aparición ni la evolución de los gliomas, ni existe tratamiento específico para estos tumores. Nuestro grupo es centro de referencia para el diagnóstico de la NF1, y posee una amplia experiencia investigadora en el estudio de las bases genéticas de la enfermedad. En este proyecto se pretende realizar nuevos estudios genéticos de los pacientes con gliomas, análisis de SNPs y de secuenciación masiva (NGS), para la búsqueda de marcadores genéticos de susceptibilidad. Así mismo, se propone investigar la existencia de exosomas secretados por los gliomas que mediando la comunicación inter-celular durante la progresión del tumor, pudieran ser un marcador de efecto. Con estos estudios se mejorará el conocimiento de la gliomagénesis de estos tumores para mejorar su diagnóstico y pronostico, y avanzar en el desarrollo de posibles terapias más específicas y personalizadas. (Spanish)
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Neurofibromatosis type 1 (NF1) is one of the most common hereditary diseases that predispose to the development of certain benign and malignant tumors in the nervous system and skin. The most prevalent tumor in paediatric patients is grade I optic glioma or pilocytic astrocytoma that develops in the optic nerves or chiasma, producing important morbidity. NF1 is caused by mutations in the NF1 gene, but there is no correlation between genotype and phenotype in almost all pathogenic variants, and it is not possible to predict the appearance or evolution of gliomas, nor is there any specific treatment for these tumors. Our group is a reference center for the diagnosis of NF1, and has extensive research experience in the study of the genetic bases of the disease. This project aims to carry out new genetic studies of patients with gliomas, analysis of SNPs and mass sequencing (NGS), to search for genetic markers of susceptibility. Likewise, it is proposed to investigate the existence of exosomes secreted by gliomas that, mediating intercellular communication during tumor progression, could be a marker of effect. These studies will improve knowledge of the gliomagenesis of these tumors to improve their diagnosis and forecast, and advance the development of possible more specific and personalised therapies. (English)
12 October 2021
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Madrid
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Identifiers
PI15_01777
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