JOB DESCRIPTION

The Clinical Genomics group is a multidisciplinary team performing clinical genomic tests to determine the genetic cause of different hereditary diseases as members of the Genetic Department at Hospital Germans Trias & Pujol. The Genetic Department has several important responsibilities, including diagnosing and monitoring patients with hereditary diseases, providing genetic counseling to patients and their families, and conducting genetic tests.

The group is also focused on increasing the cost-effectiveness of genetic testing and enhancing their knowledge of the genetic bases of various diseases. To achieve this goal, they are actively developing new genomic techniques to analyze germline and somatic variants at both RNA and DNA levels. Additionally, the group is participating in developing new methodologies to determine the status of known pharmacogenomics biomarkers and to validate different Polygenic Risk Scores for multifactorial diseases.

Furthermore, the group is a member of the Spanish Reference Center (CSUR)



for adult 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. The group is also working on developing personalized medicine for this group of patients and developing new clinical guidelines that also take into account patients' emotional and social needs. They 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.

We are seeking an organized, motivated and team-oriented molecular geneticist with prev

📌 2026_131_MOLECULAR GENETICIST (Municipio de Badalona)
🏢 Igtp
📍 Municipio de Badalona