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.
QUALIFICATIONS AND EXPERIENCIE
The following requirements are mandatory:
- 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
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 January 25th,
About us
The Germans Trias i Pujol Research Institute (IGTP) is a public research centre located in Badalona. Its main objective is to increase scientific knowledge in order to transform it into solutions to improve the health and medical care of patients and the community.
The Institute is associated with one of the major university hospitals in the Barcelona area, the Germans Trias i Pujol Hospital, and is part of the Can Ruti biomedical campus. IGTP is a CERCA centre and is also accredited as a centre of excellence by the Instituto de Salud Carlos III (ISCIII) and is in charge of coordinating the management and scientific strategy of the campus, working in close collaboration with the other centres.
The Germans Trias i Pujol Research Institute carries out research within 9 areas:
- Cancer
- Cardiovascular and Respiratory Diseases
- Community Health
- Diseases of the Liver and Digestive Tract
- Endocrine and Diseases of the Metabolism, Bones and Kidneys
- Immunology and Inflammation
- Infectious Diseases
- Neuroscience
- Science of Behaviour and Substance Abuse
Scientists working in these areas publish an average of over 900 papers a year, contribute to improved treatment and healthcare protocols, produce patents and set up spin-off companies in order to improve the lives of patients.
The following video is a bird's eye view of Campus Can Ruti a top-tier 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.
The IGTP, in its commitment to equal opportunities, guarantees equal treatment between candidates and persons with a degree of disability equal to or greater than 33 per 100, as accredited by the Spanish Autonomous Regions or the State Administration, or who have been declared to have a total permanent disability in a different profession through a resolution of the National Institute of Social Security, while retaining functional capacity for the completion of the tasks of the post will be positively considered.
