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

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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.

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