Creation of a tool (NeuroMeGen) for the diagnosis of congenital neurometabolic diseases and implementation in the SNS (Q3161294): Difference between revisions
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(Created claim: summary (P836): One of the most difficult challenges facing specialists is the diagnosis of patients with phenotypic signs and symptoms that suggest an underlying genetic cause, but for whom etiology remains elusive despite costly and often lengthy etiological research. The purpose of this project is to create a diagnostic tool based on mass sequencing technology, phenotypic analysis and pattern recognition that facilitates the diagnosis of neurometabolic disor...) |
(Changed label, description and/or aliases in en: translated_label) |
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Creation of a tool (NeuroMeGen) for the diagnosis of congenital neurometabolic diseases and implementation in the SNS | |||
Revision as of 17:07, 12 October 2021
Project Q3161294 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Creation of a tool (NeuroMeGen) for the diagnosis of congenital neurometabolic diseases and implementation in the SNS |
Project Q3161294 in Spain |
Statements
30,400.0 Euro
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38,000.0 Euro
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80.0 percent
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1 January 2014
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31 March 2017
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FUNDACION INSTITUTO DE INVESTIGACION SANITARIA DE SANTIAGO DE COMPOSTELA
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42°52'49.51"N, 8°32'45.10"W
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15078
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Uno de los retos más difíciles al que se enfrentan los especialistas es el diagnóstico de pacientes que presentan signos y síntomas fenotípicos que sugieren una causa genética subyacente, pero para los que la etiología sigue siendo elusiva a pesar de realizar costosas y a menudo largas investigaciones etiológicas. El propósito de este proyecto es crear una herramienta diagnóstica basada en tecnología de secuenciación masiva, análisis fenotípico y reconocimiento de patrones que facilite el diagnóstico de los trastornos neurometabólicos, y evite el calvario diagnóstico. Esta herramienta (NeuroMeGen) analizará de forma simultánea un total de 1120 genes, reducirá el tiempo de análisis a 1-2 meses y tendrá un coste similar al del análisis convencional de un solo gen. Los pacientes con clínica neurometabólica no diagnosticados procederán del CHUS y del Hospital Niño Jesús de Madrid. Para crear NeuroMeGen utilizaremos tecnología de hibridación en solución y secuenciaremos en la plataforma de secuenciación masiva HiSeq de Illumina y algoritmos de nueva creación. Los resultados se analizarán con un software construido ex-profeso para este proyecto por un equipo de investigación de Gradiant, que integrará tecnología puntera en reconocimiento de patrones, facilitando así el hallazgo de las variantes patogénicas subyacentes con mayor rapidez. La fusión de ambas tecnologías conducirá a la creación de una startup para explotar esta herramienta diagnóstica en este y otros países. NeuroMeGen mejorará el diagnostico, tratamiento, pronóstico y la salud de los pacientes con trastornos neurometabólicos disminuyendo significativamente el coste social y sanitario de estas enfermedades en el SNS. (Spanish)
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One of the most difficult challenges facing specialists is the diagnosis of patients with phenotypic signs and symptoms that suggest an underlying genetic cause, but for whom etiology remains elusive despite costly and often lengthy etiological research. The purpose of this project is to create a diagnostic tool based on mass sequencing technology, phenotypic analysis and pattern recognition that facilitates the diagnosis of neurometabolic disorders, and avoids diagnostic calvary. This tool (NeuroMeGen) will simultaneously analyse a total of 1120 genes, reduce the analysis time to 1-2 months, and have a similar cost to conventional single gene analysis. Patients with undiagnosed neurometabolic clinics will come from CHUS and Hospital Niño Jesús in Madrid. To create NeuroMeGen we will use solution hybridisation technology and sequencing on Illumina’s HiSeq mass sequencing platform and newly created algorithms. The results will be analysed with software built ex-professional for this project by a Gradiant research team, which will integrate cutting-edge technology in pattern recognition, thus facilitating the discovery of the underlying pathogenic variants more quickly. The merging of both technologies will lead to the creation of a startup to exploit this diagnostic tool in this and other countries. NeuroMeGen will improve the diagnosis, treatment, prognosis and health of patients with neurometabolic disorders by significantly reducing the social and health costs of these diseases in the SNS. (English)
12 October 2021
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Santiago de Compostela
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Identifiers
PI13_02177
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