Our Three-Year Planning (2025-2027) for Research

Non-communicable diseases (NCDs) have a high epidemiological impact: in addition to being frequent, they cause over 60% of deaths globally due to high morbidity. Therefore, they represent a huge problem for patients, their families and healthcare systems, especially the universalistic ones. The pathogenetic bases of these diseases, also defined as complex diseases, include a genetic and epigenetic component (about 10-20%), which interacts with age, sex and various environmental factors according to mechanisms that are yet to be clarified. New high-efficiency technologies and advanced statistical approaches now allow us to holistically study the interaction of these factors in modulating disease risk. For data production, "omics" (genomics, epigenomics, transcriptomics, metabolomics, etc.) are used, which study the pathogenetic bases of NCDs in their intrinsic complexity. For data analysis, new statistical and computational methodologies developed to manage the so-called "big data" are used.

Over the past twenty years, our Research Hospital has promoted an intense organizational effort involving researchers and clinicians in the recruitment of large case series of complex diseases of our interest, carefully and clinically characterized. The availability of these case series, enriched by the collaboration with important national and international research centers, combined with the most advanced technologies in the "omics" field (NGS, DNA Microarray, RNAseq), bioinformatic and biostatistical analyses of generated data, and functional studies on cellular and animal models set up on purpose, will allow us to identify new pathogenetic mechanisms. The knowledge acquired will be fundamental to develop new strategies for prediction, prevention and personalized treatments, bringing the implementation of precision medicine closer to the field of complex diseases.

1. i) To identify gene variants associated with rare non-neurological genetic diseases and describe new phenotypes.

   ii) To identify gene variants associated with complex diseases and study their interaction with non-genetic factors in modulating disease risk.

   iii) To create new prediction models.

   iv) To develop new prevention strategies.

i) To identify gene variants associated with rare non-neurological genetic diseases and describe new phenotypes.

ii) To identify gene variants associated with complex diseases and study their interaction with non-genetic factors in modulating disease risk.

iii) To create new prediction models.

iv) To develop new prevention strategies.

i) Identification of pathogenic pathways underlying non-neurological rare diseases and complex diseases, by holistically analyzing omics data and correlating the results with the patients’ clinical phenotype;

ii) Definition of the biological role of identified genetic variants and their correlates deriving from other omics (transcripts, proteins, metabolites);

iii) Use of genetic markers and their correlates for predictive purposes, to develop prediction models and personalized prevention strategies.