Functional validation of genetic variants in paediatric inborn errors of immunity
The Infection and Immunity in Paediatric Patients Research Group at the Vall d'Hebron Research Institute (VHIR), Barcelona, is seeking an outstanding postdoctoral researcher interested in developing competitive applications for the next Marie Sklodowska-Curie Postdoctoral Fellowships (MSCA-PF).
Marie Skłodowska-Curie Actions – Postdoctoral Fellowships (MSCA-PF)
The Marie Skłodowska-Curie Postdoctoral Fellowships (MSCA-PF) are part of the Horizon Europe programme and support postdoctoral researchers in developing an original research and innovation project through international mobility.
The programme aims to strengthen researchers’ careers through excellent science, international collaboration and interdisciplinary experience, while fostering integration in both academic and non-academic environments. The MSCA-PF call is highly competitive and represents an excellent opportunity to attract international talent and support researchers in consolidating their scientific careers through an ambitious mobility-based fellowship.
The 2026 call closes on 09/09/2026 (17:00 Brussels time). For candidates applying to a European Postdoctoral Fellowship, the fellowship duration is from 12 to 24 months
Full eligibility details: MSCA Postdoctoral Fellowships 2026
Background
Next-generation sequencing has improved the diagnosis of inborn errors of immunity (IEI), but it has also created a growing bottleneck: candidate variants and variants of uncertain significance (VUS) that cannot be translated into diagnosis, counselling or targeted treatment without functional evidence. This is especially relevant in children with severe infection susceptibility, immune dysregulation, cytopenias, autoinflammation, combined immunodeficiency or complex syndromic presentations.
The project will build on the pediatric IEI programme, the Advanced Immunology Testing Laboratory and the joint laboratory activity established between the Infection and Immunity in Pediatric Patients Research Group (I2P2-RG) and the Translational Immunology at VHIR. It will combine deep clinical phenotyping, advanced immunophenotyping, primary human cell assays, engineered cellular systems and selected in vivo models to move from genomic suspicion to experimentally supported pathogenicity.
Objective
• Establish a structured VUS validation pipeline integrating phenotype, segregation, genomic/structural variant analysis, transcript-level evidence, immune profiling and ACMG/AMP-oriented interpretation.
• Develop patient-derived functional assays using PBMCs, lymphocyte subsets, neutrophils and/or fibroblasts, with readouts adapted to the suspected pathway.
• Interrogate priority pathways relevant to IEI, including JAK/STAT, NF-kB, PI3K-AKT/mTOR, lymphocyte activation, antibody deficiency and oxidative burst/host-defence mechanisms.
• Generate complementary human models, including stimulated primary cells, immortalised or CRISPR-edited cell systems, rescue/overexpression experiments and multi-omics readouts where appropriate.
• Use selected animal or preclinical models, according to biological plausibility and feasibility, to assess immune development, infection susceptibility or inflammatory phenotypes in vivo.
• Translate validated results into variant reclassification, genotype-phenotype refinement, diagnostic reporting and precision therapeutic decisions for children with IEI.
The Group
Research Group, led by Dr Pere Soler-Palacín, focuses on paediatric infectious diseases and immunodeficiencies, with a strong translational orientation from bedside phenotyping to laboratory validation and personalised management. The group studies congenital errors of immunity, severe and unusual infections, immune dysregulation, biomarkers, targeted therapies and diagnostic innovation.
The group coordinates an Advanced Immunology Testing Laboratory and works in a shared laboratory ecosystem with the Translational Immunology group at VHIR. This setting provides access to well-characterised paediatric IEI cohorts, clinical samples, immunophenotyping platforms, molecular genetics, bioinformatics, biobank resources, animal facilities and preclinical/functional validation support. In the last year, the group reported 48 publications, 72.9% in Q1 journals, 140 citations, 12 ongoing projects and 16 active clinical trials.
Collaborate with the Translational Immunology group, creating a joint human immunology/genetics laboratory setting for IEI variant prioritisation and functional validation Methodological publications, validated reusable code or data models, and a roadmap for clinically safe deployment of IEI screening tools.
Focus on primary immune-cell assays, advanced flow cytometry and phospho-flow, cytokine and Luminex assays, ELISA, Western blotting, transcript/cDNA analysis, cell culture, genome editing, structural variant interpretation or animal/preclinical modelling.
Validate functional workflows, mechanistic studies of selected genes or pathways, publications linking genotype to immune phenotype, and clinically actionable evidence for diagnosis and treatment.
Applicants must hold a PhD degree or have successfully defended their thesis before the call deadline (09/09/2026)
Applicants must comply with the mobility rule, meaning they must not have resided or carried out their main activity (work/studies) in the host country for more than 12 months during the 36 months prior to the call deadline.
Fluency in English (spoken and written)
Desirable:
Previous work in IEI/primary immunodeficiencies, immune dysregulation, autoinflammation, host-pathogen susceptibility, clinical immunology, rare disease genetics or functional genomics.
Applicants must have a maximum of 8 years of postdoctoral research experience by the call deadline. This means candidates are generally eligible if they obtained their PhD on or after 10/09/2018 (possible extensions may apply, e.g. parental leave or long-term illness).
Solid wet-lab background
Cell culture and cell isolation
Advanced flow cytometry and panel design
Experimental design
Data analysis
Capacity to work across clinical and laboratory teams.
Western blotting, ELISA, Luminex/multiplex assays, phospho-flow, cytokine stimulation assays, lymphocyte proliferation, neutrophil oxidative burst, qPCR/RT-qPCR or cDNA analysis, CRISPR/Cas9 or other genome editing, animal models, biobanking, anonymised patient databases and ACMG/AMP variant interpretation.
Deadline to apply: 31-07-2026
VHIR embraces Equality and Diversity. As reflected in our values we work toward ensuring inclusion and equal opportunity in recruitment, hiring, training, and management for all staff within the organisation, regardless of gender, civil status, family status, sexual orientation, gender identity and expression, religion, age, functional diversity or ethnicity.
Information on Personal Data Protection:
Data Controller: Fundació Hospital Universitari Vall d’Hebron Institut de Recerca -VHIR-. Purpose: Personnel selection. Legal Basis: Your consent. Data retention period: One year. If you are selected, as long as the employment relationship is in force and legal responsibilities may arise. Data sharing: Does not occur, except for communications necessary to fulfill the purpose and those required by law to public and private bodies. Rights: You can access, rectify, delete, object to, and limit the processing of data, as well as request data portability where applicable, by contacting lopd@vhir.org DPO: dpd@ticsalutsocial.cat More information can be found here
Data Protection Authority: APDCAT
We are a public sector institution that promotes and develops the biomedical research, innovation and teaching at Vall d'Hebron University Hospital, the hospital of Barcelona and the largest of Catalan Institute of Health (ICS). The members of our Board of Trustees are the Catalan Ministry of Health, the Catalan Ministry of Economy and Knowledge (we are a CERCA center), Vall d'Hebron University Hospital, Bank of blood and tissues, the Autonomous University of Barcelona (UAB), of which we are an accredited research institute, and the Vall d'Hebron Institute of Oncology (VHIO), which together with VHIR is part of Accredited Institute of Campus Vall d’Hebron Institute by the Institute of Health Carlos III (ISCIII).
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