JOB DESCRIPTION
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 working group of the Hospital Universitari Germans Trias & Pujol. 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 idóneo 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.
MAIN RESPONSIBILITIES
- As a member of the Clinical Pharmacogenomics Unit, you will participate in the various ongoing projects in the laboratory, research activities and publications, but primarily in carrying out the different high-throughput genotyping projects and other cellular and molecular biology techniques.
- You will actively assist in and implement new protocols to improve the genomic diagnostic techniques available in the laboratory, participate in research activities within the clinical genomics group, and contribute to team research publications.
- You will work daily as part of a multidisciplinary team with clinical staff, bioinformaticians, biologists and molecular geneticists.
- You will interact with experts in medicine, pharmacy, genetics and bioinformatics to jointly evaluate different project designs, protocols, results obtained, etc., participating in regular group meetings to understand clinical and research needs and to improve the required experiments.
QUALIFICATIONS AND EXPERIENCIE
- Degree in biology, biochemistry, genetics or similar, with human genetics knowledge. Applicants with degrees in other life sciences will be considered providing they can demonstrate expertise in human genetics.
- Experience in cell culture and molecular biology techniques (primary cell cultures or iPSC cultures will be positively evaluated)
- Knowledge of genetics and different genotyping and NGS techniques will be an advantage.
- Fluent English.
- Good interpersonal and organizational skills.
- Attention to detail.
- Candidates must be highly motivated, tidy, responsible and proactive, with the ability to work in a dynamic team environment
WHAT WE OFFER
- 1628h/ year
- One year contract (Fondos de resiliencia Next Generation linked to the EJPRD project, with the possibility of seeking further funding to continuing as research assistance on the group's various projects.
- Gross annual remuneration inherent to the square objected to this call, will be fixed based on the experience provided and the skills of the candidate, distributed in 12 payments.
- Flexible