Closed

Genetic Diseases Group, linked to the Genetics Service

Barcelona Ref. 2026/032

Call for a Genetic Diseases Group, linked to the Genetics Service. 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.

Applications will be resolved within a maximum period of one month from the end of the deadline for submission of documentation. At the end of this period, without having been notified of an express resolution, the interested parties will be entitled to understand that their applications have been rejected.

Santa Creu i Sant Pau Hospital Research Institute Foundation may declare this call for applications closed if, according to its criteria, the candidates does not meet the conditions that the Institution considers necessary to fill the position.

The interpretation of the requirements and their enforceability to the candidates will be exclusive to the Santa Creu i Sant Pau Hospital Research Institute Foundation.

**It is essential to attach the duly signed data processing authorization (document

attached at the end of the call)***

The deadline for submitting applications will end on March 16th , 2026, at 3:00 p.m.

Barcelona, Tel: 93 291 90 50, NIF: G-60136934,

Apply to this offer

Accepted File Extensions: PDF, DOC, DOCX, ODT, TXT (max 10 MB)
Accepted File Extensions: PDF, DOC, DOCX, ODT, TXT (max 10 MB)
Text to Identify Refresh CAPTCHA