New Technologies in Biomedical Research
The scientific approach of the programme, within a Biomedicine centre funded by the Conselleria de Sanitat, has a clear orientation to the clinical practice and a translational character. Our computational skills puts us in a privileged position regarding other disciplines when we have to manage data resulting from different omics techniques, which are causing a real revolution in Medicine. In this scenario, the scientific objectives of the programme are focused to relate the genotype (especially in its more easily measurable aspects nowadays in the hospital field by means of genomic sequencing, transcriptomics, methylomics, metabolomics, etc.) with the phenotype, with special stress on the disease and the response to the drugs. It is the only programme with a computational character in the centre and the unique with these characteristics in the Valencian Community.
Our scientific goals are directly aligned with the concept of precision medicine, which seeks to diagnose and to take therapeutic decisions based on the knowledge of the molecular mechanisms of the disease and the drugs action.
The search of these relations genotype-phenotype involves a sustained research effort in innovative algorithms that allow the discovery of new biomarkers with higher diagnostic and prognostic predictive power, and therefore higher clinical utility. This research has allowed us to increase our net of collaborators and carry out numerous practical applications of our developments, which have proved its efficacy in different diseases, mainly cancer and rare diseases. Additionally, we have also contributed to discover diverse biomarkers and pathologic variants in other diseases such as cardiovascular, allergies, obesity, etc. We also have made interesting contributions in pharmacogenomics.
On the other hand, we use the knowledge available on the effects that alterations of the activity or integrity of the genes have on the initiation or development of diseases for the design and implementation of tools that allow transforming poorly informative genomic data into relevant clinical knowledge and of direct utility for diagnosis, treatment recommendation and others clinical applications. In other words, translational clinical bioinformatics is another main objective of the programme.
The scientific goals of the programme cover three principal fields: i) research on innovate algorithms and development of new generation tools for the genomic data management, ii) application of these tools to rare diseases and cancer, mainly to search for new diagnostic, prognostic and treatment biomarkers, in addition to new disease genes. Samples come from our growing network of local, national and international collaborators, as well as our involvement in networks as the CIBERER, and iii) study and modelling of different aspects of the cellular function to generate verifiable hypothesis about the disease and drugs action mechanisms.