Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Programme 2014 - 2020 INTERREG V-A Spain - France - Andorra (POCTEFA)

Date of latest update: 2023-03-10

Description

Description (ES):

Los recientes avances en el cribado neonatal de enfermedades y en las técnicas de diagnóstico genético están llegando de forma desigual a la población afectada. Además, la información obtenida sobre las mutaciones de los pacientes es a veces difícil de aprovechar para mejorar su tratamiento por falta de herramientas de interpretación. Pirepred reúne a hospitales y centros de investigación de las dos vertientes pirenaicas para ayudar a resolver estos problemas. Pirepred integrará a los hospitales que encargan o realizan pruebas de diagnóstico genético relacionadas con los programas de cribado neonatal, para definir sus necesidades comunes y hacer recomendaciones para mejorar su gestión. Por otro lado, Pirepred pondrá a disposición de los hospitales un servicio de asistencia en la interpretación molecular de las mutaciones individuales de sus pacientes y desarrollará nuevas herramientas bioinformáticas de diagnóstico para superar las dificultades más frecuentes en la interpretación de la información genética y para avanzar en la comprensión de estas enfermedades. Las regiones pirenaicas se caracterizan por la heterogeneidad de sus programas de cribado. Los mecanismos de coordinación y herramientas de interpretación avanzada de Pirepred beneficiarán a la población afectada y a las administraciones sanitarias. La cooperación transfronteriza es muy recomendable porque muchas de las enfermedades cribadas son enfermedades raras y la escasez de pacientes dificulta su comprensión.

Description (FR):

Les progrès récents dans le dépistage néonatal des maladies génétiques et les techniques de diagnostic arrivent inégalement à la population touchée. De plus, les informations obtenues sur les défauts génétiques sont parfois difficiles à interpréter et ne permettent pas d’améliorer le traitement des patients atteints. Pirepred rassemble des hôpitaux et des centres de recherche situés sur les deux versants des Pyrénées afin d’aider à résoudre ces problèmes. Pirepred intégrera les résultats des tests de diagnostic génétiques du dépistage néonatal réalisés par différents hopitaux, afin de définir leurs besoins communs et établir des recommandations pour améliorer leur gestion. D'autre part, Pirepred mettra à la disposition des hôpitaux un service de soutien sur l'interprétation moléculaire des mutations individuelles des patients et développera de nouveaux outils bioinformatiques pour surmonter les difficultés les plus courantes dans l'interprétation des résultats, afin de faire progresser la compréhension de ces maladies. Les régions Pyrénéennes présentent une hétérogénéité dans leurs programmes de dépistage respectifs. L’archivage des données génétiques, leur analyse et l’aide à l’interprétation des test de diagnostiques constituera une aide précieuse pour les hôpitaux et les populations concernés. La coopération transfrontalière est essentielle dans le projet Pirepred car la majorités des maladies ciblées sont rares et dont le manque de patients les rend difficile à comprendre.

Description (EN):

Recent advances in the screening of neonatal diseases and in genetic diagnosis techniques are reaching the affected population unevenly. In addition, the information obtained on the mutations of patients is sometimes difficult to analyze and use to improve their treatment. Pirepred brings together hospitals and research centres of the two Pyrenean sides to address and help to solve these problems. Pirepred will integrate the various hospitals that handle or perform genetic diagnostic tests related to newborn screening programs to define their common needs and make recommendations that result in better management of these programs. On the other hand, Pirepred will make available to health professionals a help desk for the molecular interpretation of individual mutations of their patients, will develop new bioinformatics diagnostic tools to overcome the most common difficulties encountered in the interpretation of genetic information, and will contribute to advance the understanding of these diseases. The Pyrenean regions are characterized by the heterogeneity of their newborn screening programs. Pirepred's coordination mechanisms and tools for advanced interpretation will benefit the affected population and healthcare authorities. The shortage of patients for many of the diseases that are screened, which are rare pathologies, makes it especially difficult to understand them and strongly advises for cross-border cooperation.

Achievements (ES):

Resultados principales del proyecto: 1-El Informe Pirepred sobre el cribado neonatal en España y en Francia, que recoge las recomendaciones de 16 expertos de distintas CCAA para mejorar los programas actuales de cribado neonatal y que incluye reflexiones sobre la extensión y armonización de los programas, la posible incorporación del cribado genético y del análisis bioinformático a los programas actuales, así como reflexiones bioéticas sobre la obtención de permisos y la gestión de datos. 2-El Servidor bioinformático Pirepred, una herramienta sencilla de ayuda a la interpretación genética diseñada para facilitar su utilización en los servicios de pediatría de los hospitales. Este servidor, de acceso abierto en internet, proporciona predicciones consenso sobre el carácter benigno o patogénico de las variantes genéticas más comunes relacionadas con las enfermedades cribadas en neonatos.

Achievements (EN):

Main results of the project: 1-The Pirepred Report on neonatal screening in Spain and France, which includes the recommendations of 16 experts from different Autonomous Communities to improve current neonatal screening programmes and which includes reflections on the extension and harmonisation of programmes, the possible incorporation of genetic screening and bioinformatics analysis into current programmes, as well as bioethical reflections on permitting and data management. 2-The Pirepred Bioinformatics Server, a simple genetic interpretation aid tool designed to facilitate its use in hospital pediatric services. This open-access internet server provides consensus predictions on the benign or pathogenic nature of the most common genetic variants related to diseases screened in newborns.

Website: https://www.poctefa.eu/

Expected Results (ES): 1R1:Acuerdos establecidos entre empresas y centro de investigación que ha derivado en el desarrollo de productos comercializables.1R2:Empresas que se benefician de las herramientas innovadoras desarrolladas.

Expected Results (FR): 1R1:Accords passés entre entreprises et organismes de recherche devant déboucher sur le développement de produits ou services commercialisables .1R2:Entreprises bénéficiant des outils innovants développés.

Expected Results (EN): 1R1: Agreements established between companies and research centres which have led to the development of marketable goods.1R2: Companies that benefit from the innovative tools developed.

Expected Outputs (ES): CO26:Empresas que cooperan con centros de investigación en proyectos de investigación financiados.1P1:Centros de investigación que han llevado a cabo actividades de colaboración con el sector privado.

Expected Outputs (FR): CO26:Entreprises coopérant avec des organismes de recherche sur des projets de recherche financés.1P1:Nombre d’organismes de recherche ayant réalisé des activités de collaboration avec le secteur privé.

Expected Outputs (EN): CO26: Companies that cooperate with research centres in funded research projects.1P1: Research centres that have carried out activities in collaboration with the private sector.

Thematic information

Health and social services Clustering and economic cooperation

Specific Objective: Enhance cooperation between different actors from both sides of the border in R + D + I

Thematic Objective: (01) strengthening research, technological development and innovation by:

Investment Priority:

(01b) promoting business investment in R&I, developing links and synergies between enterprises, research and development centres and the higher education sector, in particular promoting investment in product and service development, technology transfer, social innovation, eco-innovation, public service applications, demand stimulation, networking, clusters and open innovation through smart specialisation, and supporting technological and applied research, pilot lines, early product validation actions, advanced manufacturing capabilities and first production, in particular in key enabling technologies and diffusion of general purpose technologies

Partners (6)

Lead Partner: IUI. Biocomputación y Física de Sistemas Complejos. Universidad de Zaragoza

Address: Campus Río Ebro. Edificio I+D. C/ Mariano Esquillor, s/n, 50018 Zaragoza, Spain

Legal status: private

Website: http://bifi.es/en/

Total budget: EUR 231 639.86

ERDF budget: EUR 150 565.90

Centre Hospitalier Universitaire de Toulouse

Name: Centre Hospitalier Universitaire de Toulouse

Address: 2 rue Viguerie-TSA 80035, 31059 Toulouse, France

Legal status: private

Website: www.chu-toulouse.fr

Total budget: EUR 46 701.50

ERDF budget: EUR 30 355.98

Centre National de la Recherche Scientifique Delegation Midi-Pyrenees

Name: Centre National de la Recherche Scientifique Delegation Midi-Pyrenees

Address: 16 AVENUE EDOUARD BELIN, 31055 Toulouse, France

Legal status: public

Website (not verified): http://www.cnrs.fr/midi-pyrenees/Delegation/Delegu

Total budget: EUR 150 810.30

ERDF budget: EUR 98 026.50

Fundació Hospital Universitari Vall D’hebron- Institut de Recerca

Name: Fundació Hospital Universitari Vall D’hebron- Institut de Recerca

Address: Passeig de vall d'hebron 119-129, 8035 Barcelona, Spain

Legal status: private

Website: www.vhir.org

Total budget: EUR 155 213.50

ERDF budget: EUR 100 888.77

Fundación Instituto de Investigación Sanitaria Aragón

Name: Fundación Instituto de Investigación Sanitaria Aragón

Address: Avda. San Juan Bosco, 13, 50009 Zaragoza, Spain

Legal status: private

Website: www.iisaragon.es

Total budget: EUR 87 100.58

ERDF budget: EUR 56 615.38

Barcelona Supercomputing Center - Centro Nacional de Supercomputación

Name: Barcelona Supercomputing Center - Centro Nacional de Supercomputación

Address: Carrer Jordi Girona 31, 8034 Barcelona, Spain

Legal status: private

Website: www.bsc.es

Total budget: EUR 155 542.65

ERDF budget: EUR 101 102.72

Partners map

Partners and Projects info

Centre Hospitalier Universitaire de Toulouse

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Partners and Projects info

Centre National de la Recherche Scientifique Delegation Midi-Pyrenees

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Partners and Projects info

Fundació Hospital Universitari Vall D’hebron- Institut de Recerca

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Partners and Projects info

Fundación Instituto de Investigación Sanitaria Aragón

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Partners and Projects info

Barcelona Supercomputing Center - Centro Nacional de Supercomputación

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Partners and Projects info

IUI. Biocomputación y Física de Sistemas Complejos. Universidad de Zaragoza

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Lead partner

Project partner

Summary

Project name (ES): Cooperación transfronteriza para la creación de la Red Interreg de Predicción del fenotipo asociado a Mutaciones patogénicas

Project name (EN): Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Project acronym: PIREPRED

Project start date: 2016-09-01

Project end date: 2019-08-31

Project status: closed

Total budget/expenditure: EUR 827 008.39

Total EU funding (amount): EUR 537 555.25

Co-financing sources:

ERDF: Amount, EUR 537 555.25.

Documents

Documents on this project are listed below, and organised by category. Please note field "Data source", attached to each document. Keep.eu users are free to use these documents as long as they mention the data source and keep.eu.

Media releases / articles

BRCA1‐and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/importante-reconocimiento-cientifico-internacional-a-un-socio-de-pirepred/

Publication date: 2021-11-16

Document date: 2019-05-17

Languages: en

Attachment file: Download

Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2020-10-08

Languages: en

Attachment file: Download

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2017-08-10

Languages: en

Attachment file: Download

New variant (Val597Ile) in transmembrane region of the TSH receptor with human chorionic gonadotropin hypersensitivity in familial gestational hyperthyroidism

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2020-04-28

Languages: en

Attachment file: Download

Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2019-03-29

Languages: en

Attachment file: Download

Docking-based modeling of protein-protein interfaces for extensive structural and functional characterization of missense mutations

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2017-08-25

Languages: en

Attachment file: Download

Integrative modeling of protein-protein interactions with pyDock for the new docking challenges

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2019-11-15

Languages: en

Attachment file: Download

Insights into immune evasion of human metapneumovirus: novel 180- and 111-nucleotide duplications within viral G gene throughout 2014-2017 seasons in Barcelona, Spain

Attachment type: file

Type of document: Media release / article

Data source: http://pirepred.com/excelente-difusion-de-los-resultados-de-pirepred-en-el-ambito-cientifico-tecnologico/

Publication date: 2021-11-16

Document date: 2020-08-11

Languages: en

Attachment file: Download

Reports

Informe Sobre el cribado neonatal en España y en Francia

Attachment type: file

Type of document: Report

Data source: http://pirepred.com/el-miercoles-23-de-junio-de-2021-tuvo-lugar-la-jornada-cribado-neonatal-presente-y-reflexiones-sobre-el-futuro-que-enmarco-la-clausura-de-pirepred-presentando-sus-resultados-mas-destacados/

Publication date: 2021-11-16

Document date: 2021-05-18

Languages: es

Attachment file: Download

Rapport Sur le dépistage néonatal en Espagne et en France

Attachment type: file

Type of document: Report

Publication date: 2021-11-16

Document date: 2021-05-18

Languages: fr

Attachment file: Download

Presentations

Combining pyDock ab initio docking and template-based modeling for the CASP13-CAPRI Challenge

Attachment type: file

Type of document: Presentation

Data source: http://pirepred.com/los-avances-de-pirepred-en-congresos-internacionales/

Publication date: 2021-11-16

Document date: 2019-08-31

Languages: en

Attachment file: Download

Information regarding the data in keep.eu on the programme financing this project

Financing programme

2014 - 2020 INTERREG V-A Spain - France - Andorra (POCTEFA)

Last month that data in keep.eu was retrieved from the Programme's website or received from the Programme

2021-11-01

No. of projects in keep.eu / Total no. of projects (% of projects in keep.eu)

175 / 175 (100%)

No. of project partnerships in keep.eu / Total no. of project partnerships (% of project partnerships in keep.eu)

1 101 / 1 101 (100%)

Notes on the data

Information provided by the Programme. Achievements were retrieved by Interact from the Programme website ( https://www.poctefa.eu/), or a website directly linked from it, on 2021-12-01 and 2023-02-01.

Fields project name and achievements (from 33 projects) translated from Spanish and French into English using the European Commission's eTranslation machine translation service.

The project which field include an eTranslation English text are the ones with the following acronyms: EAS, EDIFICAT, Irakaslegaiak AEN, ANETO, CATCAR, ACELE-StartUps, ALERT, COMPET'plus, COOPWOOD, CORE, ECOCEREAL+, GATURI, GOPY, HeliNET, INNOTRANSLACT, JACOB@CCESS, LINDUS-2, LINGUATEC, MAREA, NaturClima, OUTBIOTICS, PALVIP, PIREPRED, PROMETHEUS, PyrenEOS, PYRHEQUAL, REFBIO II, REVALPET, SPAGYRIA, ThinkGut, Tr3s local and TransferINN.

Languages

Contact Form

Red Transfronteriza of interpretation of screening of neonatal: mutations of patients

Description

Thematic information

Partners (6)

Partners map

Summary

Documents

Information regarding the data in keep.eu on the programme financing this project

Disclaimer