Susana Balcells Comas
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.
Professional network profiles
- Ugartondo N, Martinez N, Esteve M, Garcia-Giralt N, Roca N, Ovejero D, Nogués X, Díez-Pérez A, Raquel Rabionet Janssen, Grinberg-Vaisman DR and Balcells S Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(14): .
- Martinez N, Roca N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg-Vaisman DR and Balcells S Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(2): .
- Martinez N, Grinberg-Vaisman DR and Balcells S Search for variants of the LRP4 gene in women with high bone mass and in patients with Chiari type I malformation Revista de Osteoporosis y Metabolismo Mineral . 13(1): 17-20.