The PROMlSE project

A new PROtocol for the Management of syndromic pedlatric conditionS involving Epileptic behavior (PROMlSE)
The PROMlSE project will consist of 3 main actions necessary to optimize the management of the "health condition" of complex patients.
The first action (Action 1) will concern the execution of Whole Exome Sequencing (WES) on patients' blood samples in order to evaluate genetic mutations with an impact on the pathology present (epilepsy) or secondary mutations that can cause further hereditary genetic pathologies or tumors, This analysis will aim not only to identify an epileptic condition linked to a genetic syndrome, but also to identify an epileptic condition linked to a genetic syndrome, but to assess the presence of additional variants capable of determining the pathological states in the patient not related to the pathology already present.
The second action (Action 2) will concern the evaluation of two classes of diagnostic/prognostic markers, molecular (miRNA, DNA) and biochemical, able to allow a longitudinal analysis of the clinical manifestations associated with the epileptic condition.
The third action (Action 3) will consist in the creation of brain tissue organoids (from iPSCs from skin fibroblasts) for the creation of a customized tissue model on which to carry out analysis and therapeutic validation activitie.
Among the main objectives of the PROMlSE project is the creation of a diagnostic protocol (of which a dossier will be prepared for the Regional Health Service) for paediatric patients to be applied as a standard and having an excellent cost/benefit ratio as well as a high degree of sustainability.
Identification of impactful events;
"Assessment" of impacting events and the identification of metrics to measure their intensity and persistence;
"Intervento" sugli eventi impattanti mediante lo sviluppo di sistemi per l'identificazione di terapie mirate.
PR FESR LAZIO 2021 – 2027
The total is grant of the project is 501.337,95 euro (CUP: F89J23001190007)
The GRANT assigned to IFO-IRE is 66.428,66 euro (codice CUP IFO-IRE: H83C23001910007)
Principal Investigator: Dott. Giovanni Blandino, UOC Ricerca Traslazionale Oncologica IRE
The funding resources are from the public notice "Riposizionamento Competitivo RSl" - Ambito 1 ”Scienze della vita” approved with Determination n. G18823 of 28/12/2022, PR FESR 2021-2027;
Proposal number A0613-2023-078041 del 14/03/2023, approved with Determination n. G15206 of 16/11/2023.
The European Regional Development Fund (ERDF) aims to consolidate economic and social cohesion in the European Union by correcting any disparities that may exist between regions.
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