Pirepred

Recent advances in neonatal screening for diseases and in genetic diagnosis techniques are reaching the affected population unevenly. Furthermore, the information obtained about patients' mutations is sometimes difficult to use to improve their treatment due to a lack of interpretation tools. Pirepred brings together hospitals and research centers from both Pyrenean slopes to help solve these problems. Pirepred will integrate hospitals that order or perform genetic diagnostic tests related to neonatal screening programs, to define their common needs and make recommendations to improve their management. On the other hand, Pirepred will make available to hospitals an assistance service in the molecular interpretation of the individual mutations of their patients and will develop new bioinformatic diagnostic tools to overcome the most frequent difficulties in the interpretation of genetic information and to advance in understanding of these diseases. The Pyrenean regions are characterized by the heterogeneity of their screening programs. Pirepred's coordination mechanisms and advanced interpretation tools will benefit the affected population and health administrations. Cross-border cooperation is highly recommended because many of the diseases screened are rare diseases and the shortage of patients makes their understanding difficult.