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. 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 previous experience in human genetics and NGS data analysis, especially clinical WES applying ACMG guidelines, with the desire to work in a multidisciplinary team focused in clinical genetics and translational research and to get involved mainly in the clinical genetic testing, quality assurance and in the different projects of the group.
MAIN RESPONSIBILITIES
- As molecular geneticist, you will be in charge of Panel- NGS and WES analysis, in addition to elaborate clinical reports and participate in the quality assurance of the laboratory (ISO9001 and ISO15198)
- You will actively participate in the different clinical committees and meetings with other collaborators or centers to discuss patients diagnose, follow-up and treatment and also prepare the documentation required for those meetings / committees.
- As member of Clinical Genomics research group, you will also participate in the research activities, most centered in developing or validating tools for clinical genomic testing and tis publications.
- You will work on a daily basis in a multidisciplinary team with clinical staff, bioinformaticians, biologists and molecular geneticists.
- You will interact with experts in medicine, genetics and bioinformatics to jointly evaluate the different tools, software, etc. used in the group, participating in regular group meetings to understand clinical and research needs and help the team to improve them.
QUALIFICATIONS AND EXPERIENCIE
- Degree in biology, biochemistry, genetics or similar, with high human genetics knowledge. Applicants with degrees in other life sciences will be considered providing they can demonstrate expertise in human genetics. PhD in (human) genetics will be an asset.
- Knowledge of Next Generation Sequencing and genomic data analysis.
- Previous experience in working with high-throughput genomic data, analyzing them and interpreting the results.
- Familiar with human genetic variants interpretation, annotation, in silico programs and with expertise in applying ACMG guidelines for genetic variants interpretation.
- Analysis of WES for clinical purposes and knowledge on ISO15189 will be an asset.
- Fluent English.
- Good organizational skills and excellent attention to detail.
- Ability to perform as a team member and must have good interpersonal skills
This position is intended for specialized technicians in molecular genetics who can progressively become independent in performing clinical genomic testing and also participating in the research projects in line with the group priorities
WHAT WE OFFER
- Indefinite contract (Science Law (17/2022)).
- Full-time contract.
- Gross annual remuneration inherent in the position covered by this call, will be set according to the amount awarded for the grant awarded, distributed in 12 payments.
- Flexible payment (childminding vouchers).
- 23 days holiday and 5 days for personal matters + 2 days for Easter + 2 days for Christams.
- Training capsules by the company.
- Excellent research and training opportunities with access to state-of-the-art facilities
- Be part of an excellent multidisciplinary research center with the HRS4R badge.
- Location at the Can Ruti Campus, a top-level translational research environment in the Barcelona area, in a very stimulating scientific environment. The IGTP offers a supportive, friendly and collaborative ecosystem to promote professional development and help you achieve your research goals.
FOR MORE INFORMATION
https://www.germanstrias.org/en/research/cancer/22/clinical-genomics-unit-ugc
HOW TO APPLY
Interested persons must attach to the application:
- Motivation letter explaining their interest in the position.
- Updated CV.
- Contact of 2-3 references.
Applications will be evaluated in accordance with the guiding principles and objectives of the supply systems, following the process described below:
- Curricular evaluation: analysis of the curriculum vitae to assess aspects related to training, professional career and experience in positions related to the job position under selection.
- Personal interview: once the résumé has been evaluated, the selected candidates will be called for a personal interview to verify and expand on the information detailed in the résumé and to evaluate aspects related to experience and professional skills.
Applications that do not meet the requirements, that are not included in the cases foreseen or that are not processed in accordance with the established procedure will not be considered in the selection process.
DEADLINE FOR APPLICATIONS
The call for applications will close on
April 5th, 2026.