Raquel Rodrigues Vaz

Raquel Rodrigues Vaz

Research Specialist
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm


  • I am interested in understanding how genomic changes found in patients result
    in disease, aiming to identify the affected cellular pathways and, whenever
    possible, potential targets for therapy. In many cases the disease-causing
    genomic changes have already been described, however a significant percentage
    of patients are still undiagnosed. I focus on assessing the relevance of
    mutations in candidate genes found by whole exome or genome sequencing in
    disease using mainly the zebrafish model. The disorders I am studying include
    congenital myopathies, malformations and dysplasias, and ciliopathies.


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