Conference “Neonatal screening: present and reflections on the future”

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Conference “Neonatal screening: present and reflections on the future”

23 June, 2021

The next day June 23th, 2021 will occur closing day of the project Pirepred, Cross-border Network for interpretation of neonatal screening: from the mutation to the patient (http://pirepred.com), belonging to the European Territorial Cooperation Program POCTEFA 2014-2020 of which Professor Javier Sancho is coordinator.

The main results of the project will be presented:

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 programs and includes reflections on the extension and harmonization of the programs, the possible incorporation of genetic screening and bioinformatics analysis to current programs, as well as reflections bioethics on obtaining permissions and data management.

2-The Pirepred bioinformatics server, a simple tool to assist genetic interpretation designed to facilitate its use in hospital pediatric services. This server, open access on the Internet, provides consensus predictions on the benign or pathogenic nature of the most common genetic variants related to the diseases screened for in neonates.

Attached you can find the link to follow the sessions and the agenda.

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What is Pirepred? Pirepred is a project that creates a cross-border cooperation network to coordinate neonatal screening programs in the participating regions and develop bioinformatics tools for genetic diagnosis so that doctors have the most accurate interpretation of the mutations found in their patients.

Three regions of the POCTEFA territory (Aragon, Upper Garonne and Catalonia) and also Navarra and the Basque Country participate with direct involvement in Pirepred. The project has been 3% co-financed by the European Regional Development Fund (ERDF) through the Interreg VA Spain-France-Andorra Program.

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23 June, 2021
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