Genomic Medicine

The Genomic Medicine Unit implements whole genome sequencing (WGS) methods for analysing entire genomes in the public health system. WGS is a powerful clinical, research and development tool in the field of precision medicine in Navarra. Emerging from research projects funded by the Department for Industry of the Government of Navarra, the Genomic Medicine Unit brings together its own staff (director, genetic advisor, geneticist, lab technician), clinical experts from the Navarra Hospital Complex (coordinators from twenty medical specialties), and staff from other Units (Bioinformatics) and Platforms, as well as advisors. At present, this Unit is carrying out four major research projects. Its core helps support future developments in this area.

Lines of research:

• Identification of new genes or genetic variants that increase the risk of developing genetically-based disorders in patients with rare diseases.
• Identification of genomic alterations with an impact on clinical practice, diagnosis, prognosis, therapies, and personal and reproductive risk prediction in patients and subtypes of cancer.
• Identification of genomic variants determining the likely response of an individual to therapeutic drugs (pharmacogenomics).
• Development of new bioinformatics analysis tools for applying genomic analysis in health systems (together with the Bioinformatics Unit).