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.
- Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. JOURNAL OF MEDICAL GENETICS . 60(4): 406-415.
- Martinez-Gil N, Patino-Salazar JD, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era Revista de Osteoporosis y Metabolismo Mineral . 15(1): 29-39.
- Ovejero D, Garcia-Giralt N, Martinez-Gil N, Rabionet-Janssen R, Balcells S, Grinberg-Vaisman DR, Pérez-Jurado L, Nogués X and Foronda IE Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. Bone . 161: 116450-116450.
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.