The Medical Genetics Laboratory boasts extensive expertise in identifying and characterizing the molecular mechanisms underlying the development of genetic diseases. Early investigations, carried out using linkage and positional cloning techniques, have recently been complemented by cutting-edge whole-genome analysis approaches, such as genomic arrays and Next Generation Sequencing (NGS). These advanced technologies have enabled the identification of genomic variants, including Copy Number Variants (CNVs) and Single Nucleotide Variants (SNVs), that are either causative of or associated with an increased risk of rare genetic diseases.
In addition, the integration of genotypic and phenotypic data has, in some cases, led to more precise nosological classification of diseases, enabling the discovery of novel phenotypes and the establishment of previously unrecognized genotype-phenotype correlations.
Currently, the laboratory is engaged in numerous research projects addressing a variety of conditions, including neurodevelopmental disorders, hereditary connective tissue diseases, skeletal and vascular disorders, RASopathies, and neurocutaneous syndromes.
The laboratory’s most recent research initiatives embrace a holistic approach, combining molecular data (genomic, transcriptomic, proteomic, metabolomic) with phenotypic and healthcare information. This integrative strategy is designed to generate crucial insights for the prevention and treatment of these diseases.
The laboratory is particularly focused on advanced genomic analysis, which includes the simultaneous examination of coding and non-coding genomic regions, coupled with methylome and transcriptomic studies. This comprehensive approach makes it possible to identify structural or regulatory events that influence gene expression, exploring alterations in transcriptional regulation mechanisms. Furthermore, these analyses facilitate the identification of biomarkers—DNA sequences or proteins with prognostic or predictive value for specific diseases, or indicators of treatment response and safety.
Once the utility of these omics sciences in elucidating the etiopathogenetic mechanisms of genetic diseases has been validated, the laboratory plans to translate these findings into diagnostic practice. This will improve the sensitivity and specificity of the molecular tests offered by our IRCCS, enabling the provision of more advanced and personalized diagnostic solutions for patients.
