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R2A- Postdoc Júnior
Deadline: March 16th, 2026, 3:00 pm
About the Unit / Group
Main Research Lines:
- Clinical heterogeneity in autosomal recessive and dominant genetic transmission.
- Spinal muscular atrophy and SMN genes: molecular pathology, disease mechanisms, identification of modifier genes, and biomarkers.
- Hereditary breast cancer and BRCA mutations: mutation identification, characterization of circulating tumor cells, and circulating free DNA as a predictor of treatment response.
- Pharmacogenetics: adverse drug reactions studies.
- Congenital coagulopathies: hemophilias.
- Duchenne and Becker muscular dystrophy: molecular pathology of the DMD gene.
Essential requirements
- Minimum doctoral qualification required (less than 5 years ago)
- Oral and written knowledge of the two official languages of Catalonia or, failing that, the selected candidate must demonstrate, or undertake to acquire, within a period not exceeding one year, a correct knowledge of the two official languages in Catalonia.
- High level of English
- Intermediate level of office automation tools (Excel, Word, Power Point, etc). Skills will be valued
- Experience in omics data analysis (Whole Genome Sequencing, RNASeq…)
- Experience in neuromuscular disease genetics
Functions
- Selection and preparation of the samples from the cases to be studied.
- Extraction of genomic DNA from peripheral whole blood and/or RNA from the selected muscle biopsies.
- Targeted sequencing of DMD and the transcriptome using long-read sequencing (LRS) with Oxford Nanopore (ONT) technology.
- Integrated analysis of genomic and transcriptomic data to identify complex variants in the DMD gene. Offered
- Permanent contract in the Genetic Diseases link to the project Duchenne Parent con el apoyo de la Asociación Duchenne Parent Project España
- Annual working hours: 1,627.5 h (37.5 h/week)
- Salary according to collective agreement
- Research Group: Genetic Diseases Documentation and deadline for submission Interested parties should preferably deliver the documentation (1) in PDF, by e-mail to the Management of the Santa Creu i Sant Pau Hospital Research Institute Foundation, address ir_seleccio@santpau.cat , indicating the reference 2026/032: (1) Application letter and updated Curriculum Vitae and signed Data Processing Authorization** At the request of the Santa Creu i Sant Pau Hospital Research Institute Foundation, the candidates must present the documentation accrediting the merits mentioned in the curriculum vitae.