Susana Balcells Comas

Jefe de Grupo Senior

Research line:

Bone diseases (osteoporosis, atypical femoral fractures, osteogenesis imperfecta)./ Intellectual disability (Opitz C, Schaaf-Yang, FOXP1, TRAF7, TRIM28 and related syndromes).

Susanna Balcells Comas graduated in Biology in 1982 from the University of Barcelona, holds a Master's Degree in Biomedical Sciences from the University of Texas-Houston, and obtained a PhD of Biology degree from the University of Barcelona in 1988.

Since 1990, she has been a head teacher in genetics, in the Department of Genetics, Microbiology and Statistics of the University of Barcelona and since 2019 she is part of the management committee of the European network Genomics of MusculoSkeletal traits TranslatiOnal Network (GEMSTONE).

She is currently leading, along with Daniel Grinberg, the lines on genetics of osteoporosis and other bone phenotypes and on genetic susceptibility to adverse effects of bisphosphonates (atypical femoral fracture and mandibular osteonecrosis). She also co-directs the line on intellectual disability and on genes involved in phenotypes of the spectrum of Opitz C syndrome, where pathogenic variants are sought by mass sequencing of exoma in trios and the psychophysiology is studied at the level cell by transcriptomic in fibroblasts of patients. It is wanted to identify biomarkers that allow to try therapeutic strategies for these diseases, which must be based on the private mutations of each patient.

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  • New advances in Schaaf-Yang syndrome research

    A team led by researchers from the Institut de Recerca Sant Joan de Déu · IBUB discover that mutations in the MAGEL2 gene generate non-functional truncated proteins that tend to accumulate in the cell nucleus.

  • First clinical guideline on Schaaf-Yang syndrome for professionals and families

    Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.

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