Translational Genomic Medicine Programme

Translational Genomic Medicine Programme: composed of 5 research groups that include, genetic diagnosis, bioinformatics and systems medicine.

It is a transversal programme not focused on specific diseases. The analysis of the genomic data, other omic sciences and patients’ clinical data are allowing us to prevent and diagnose a disease, as well as to determine the therapeutic response with greater efficiency. The objective of this programme is to incorporate into the clinical practice those tools of genomic medicine and systems medicine that are being used in the field of research but that need specific developments for their effective translation.

Objectives

• To facilitate the diagnosis of any disease with a genetic basis.
• To develop tools and actions for the implementation of genomic medicine. It comprises diagnostic methodologies, improvement of pathogenicity prediction systems, functional studies, bioinformatics’ analysis, as well as other aspects of translation related to quality diagnosis.
• To identify barriers and carry out the necessary research and translation actions to achieve IRDiRC's objectives related to diagnosis.
• To develop translational research projects with a clear focus on the impact in the NHS.

Research groups of the PdI