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.
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

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