Job Description

Our group is a multidisciplinary team that carries out translational and clinical research as members of the Genetics Department and the Clinical Pharmacogenomics. We focus on developing new tools for genetic diagnosis, building foundations for personalized strategies for Neurofibromatosis and Schwannomatosis, discovering prognostic biomarkers, understanding genomic alterations in disease-associated lesions, and implementing gene therapy strategies. We participate in the Spanish Reference Center (CSUR) for patients with Phakomatoses and coordinate international Variant Curation Expert Panels by ClinGen. We also run a national project on pharmacogenomics, analyzing polymorphisms to reduce side effects and improve drug adherence.

Research Focus

Our lines of research are:

• Development of new methodologies to improve current genomic testing.
• Massive genotyping to establish personalized risk of specific diseases (Polyg...