We are seeking an motivated, organized, and team-oriented molecular geneticist with previous experience in human genetics and NGS data analysis, specially WES applying ACMG guidelines, with the desire to work in a multidisciplinary team focused in translational research and to get involved in the different projects of the group.
The Clinical Genomics Research group focuses on developing new tools for genetic diagnostics and also building the basis of a personalized strategy for the Neurofibromatoses and Schwannomatosis. We are a multidisciplinary team performing both research and clinical tests since we are members of the Genetic Service at Hospital Germans Trias & Pujol and the Spanish Reference center of Phakomatoses.
Currently we are the coordinators of international Variant Curation Expert Panel (VCEP) for Neurofibromatoses and Schwannomatosis by ClinGen (NIH) and in addition we have several ongoing projects in the lab which are focused in:
-Development of new genetic tests methods;
-To study the contribution of NF2 mutation into the progression of schwannomas and meningiomas;
-Development of personalized therapy for Neurofibromatosis type 2 patients.
-The generation of a NF2 Advance Care Planning.
QUALIFICATIONS AND EXPERIENCIE:
The following requirements are mandatory:
- Degree in biology, biochemistry, genetics or similar, if possible with high human genetics knowledge. Applicants with degrees in other life sciences will be considered providing they can demonstrate expertise in human genetics.
- 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 will be an asset.
- Fluent English.
- Maintaining close communications with supervisor regarding progress.
- Candidates must be highly motivated, proactive attitude and quite independent, with the ability to work in a dynamic team environment.
- 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 developing academic research projects in line with the group priorities.
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.
The specific tasks will be:
- As molecular geneticist, you will be the NF VCEP biocurator, who will help the international expert panel to modify the ACMG guidelines for Neurofibromatoses and Schwannomatoses.
- You will be responsible primary for aggregating the available scientific evidence for subsequent expert member review.
- You will actively participate in and NF VCEP meetings to coordinate the expert panel, prepare the documentation required by ClinGen to follow FDA regulation and to follow-up the progress of the project.
- You will actively participate ClinGen biocurators training and meetings to be recognized as ClinGen biocurator.
- As member of Clinical Genomics Unit, you will participate in the analysis of genomic data at clinical level, and in research activities and 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 by VCEP and also in the group, participating in regular group meetings to understand clinical and research needs and help the team to improve them.
WHAT WE OFFER:
- This is a long period project, although the current budget is only for one year. Moreover, contract will be renewed based on positive annual appraisals.
- 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 payment (childminding vouchers).
- 23 days holiday and 5 days for personal matters.
- Training capsules by the company.
- Be part of an excellent multidisciplinary research center with the HRS4R badge.
- We are located at the Can Ruti Campus, a top translational research environment in the Barcelona area, in a highly stimulating scientific environment. The IGTP offers a supportive, friendly and collaborative ecosystem to promote career development and to help you achieve your research goals.
FOR MORE INFORMATION:
For more information see the link:
Those interested must send a letter of motivation explaining their interest in the post, a CV and details of 3 referees to the address seleccio(ELIMINAR)@igtp.cat
APPLICATIONS THAT DO NOT INCLUDE THE REFERENCE CODE IN THE SUBJECT LINE WILL NOT BE CONSIDERED
Applications will be reviewed on a rolling basis until the position is filled, and the pre-selected candidates will be contacted for interviews.