Genética Humana Avançada

The strategic objective of the Research Group is to study the interaction between genes, environmental agents and disease. Our main objectives are to evaluate genetic, proteomic and metabolomic biomarkers of exposure and disease. Specific objectives:

-Characterize exposure to chemicals, in particular nanomaterials, and their genotoxicity and carcinogenicity and early preclinical effects through human biomonitoring, within the EU Partnership for the Assessment of Risks from Chemicals (PARC), for a next generation risk assessment of chemicals.

-Molecular studies focused on male infertility, within an international collaborative project, using DNA samples obtained from men with severe patterns of infertility. Using genome-wide data, we shall evaluate the genetic associations between immune-mediated phenotypes and the patterns of spermatogenic deficiencies.

-NGS analysis of copy number and structural variants in patients with hereditary and sporadic cancers. Functional studies of new variants, including variants of unknown significance, will help elucidate their pathogenicity and clinical management. We shall use nanopore sequencing to assess the role of epigenetic modifications in cancer progression and drug resistance.

-Construct a personalized blueprint of chronic inflammation in health-to-disease transition, within the HALT-RONIN EU project. We shall study the role of genetic variability on molecular function of oxidoreductases in drug metabolism and cancer drug resistance, with a focus on metabolic liver diseases (MASLD and MASH).

-Consolidate a Multi-Omics Platform to generate integrated data (e.g., genomics, proteomics, metabolomics), within the framework of the National Laboratory for Genome Sequencing and Analysis (GenomePT) and the National Roadmap for Research Infrastructures (RNIE), that will aid the diagnosis and therapeutic response in disease and evaluate genetic, environmental and/or lifestyle risk factors to support decision-making in Precision Medicine.