The LIFEMap Project “From Pediatric Pathology to Cardiovascular and Neoplastic Diseases in Adults: Genomic Mapping for Personalized Medicine and Prevention” – Trajectory 3 of the Operational Health Plan of the Ministry of Health – aims to identify pathological and sub-pathological conditions in children and/or predictive genetic profiles associated with an increased risk of serious diseases in adults, taking into account environmental risk factors to develop personalized therapy and prevention plans for both children and adults.
For this purpose, the following will be undertaken:
Development of a federated database for the integration of genomic and phenotypic data;
Utilization of a dataset (≥5,000 patients) comprising clinical, genomic, and environmental (lifestyle) data for AI analysis;
Recruitment of new cases, both pediatric and adult (5,000 patients), with detailed clinical characterization;
Development of a scalable and reusable platform for the analysis and sharing of new data (1,400 WGS, 3,600 SNP);
Identification of a series of genetic variants and profiles associated with the risk of developing obesity, chronic inflammatory diseases, pediatric neoplasms, and their complications in adulthood;
Development of an AI analysis framework and application of Deep Learning for Network Medicine;
Implementation of a biobank of samples, potentially reusable beyond the project’s completion.
CRS4 will take part in the project with the following activities:
Whole Genome Sequencing on approximately 1,000 samples;
development of scalable and reusable platforms for WGS data analysis for variant identification;
genomic data modeling, standardization and sharing in international reference platforms;
application of scalable platforms for WGS analysis and data sharing;
scientific dissemination.
