Our group is a multidisciplinary team that carries out both translational and clinical research as we are members of the Genetics Department and the Clinical Pharmacogenomics. In particular, we, the Clinical Genomics Research group focuses on the development of new tools for genetic diagnosis and also on building the foundations of a personalized strategy for Neurofibromatosis and Schwannomatosis. We are also discovering new prognostic biomarkers, understanding the role of genomic alterations in the development of disease-associated lesions, and implementing various gene therapy strategies to cure these diseases. Furthermore, we participate on the Spanish Reference Center (CSUR) for patients with Phakomatoses (Neurofibromatoses, Schwannomatosis, Tuberous Sclerosis, and Von-Hippel Lindau diseases), which is a part of the European Network of Reference Centers (ERN) GENTURIS. Currently we are also the coordinators of international Variant Curation Expert Panel (VCEP) for Neurofibromatoses and Schwannomatosis by ClinGen (NIH) to stablish the variant classification ACMG rules for the genes causing these diseases. We are currently participating in a national project to determine the clinical utility of analyzing different polymorphisms to reduce side effects and improve adherence to certain drugs (pharmacogenomics) from mass genotyping (IPHARMDX (IMPACT pharmacogenomics)) within the clinical pharmacogenomics working group.
Our lines of research are: 1) development of new methodologies to improve current genomic testing; 2) massive genotyping to establish the personalized risk of specific diseases (Polygenic Risk Score) or adverse reactions to certain drugs (pharmacogenomics); among others. In addition, we are also coordinating the European project EJPRD_NF to improve the genetic testing and variant classification for Neurofibromatosis type 1 and Schwannomatosis by applying new genomic technologies and also by the use of iPSC-derived cell models.
We are looking for an organized and motivated research assistant who is team-oriented and has previous experience with molecular biology (e.g., PCRs, sequencing, Western blots), genetics, and cell cultures. The ideal candidate will have a desire to work in a multidisciplinary team focused on clinical genetics and translational research. The main project in which the candidate would participate is in pharmacogenomics and PRS, although participation in the group's other projects is expected. If the candidate is interested, the possibility of pursuing a Ph.D. could be evaluated.