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Susana Balcells and Daniel Grinberg, professors in the Department of Genetics and members of the Institute of Biomedicine of the UB (IBUB).

IBUB has participated in a international study to identify a novel gene implicated in osteoporosis

Un uncommon variant of the gene EN1 contributes to bone mineral density and osteoporotic fractures, according to a study recently published in the journal Nature. Daniel Grinberg, expert in the Department of Genetics of the University of Barcelona (UB) and member of the Institute of Biomedicine of the UB (IBUB) at Barcelona Science Park (PCB) has participated in the study, wich is part of the international project Genetic Factors for Osteoporosis Consortium (GEFOS), funded by the European Union.  


This is the first international study —a multi-focus study in which research centres from all over the world participate— that links EN1 with the origin and development of osteoporosis, a common disease that will lead to fractures in between one-third and one-half of all women over the course of their lives. According to study conclusions, this uncommon genetic variant has a major influence on bone mineral density, which is major predictor of osteoporosis and osteoporotic fractures.

Xavier Nogués and Natàlia Garcia Giralt, experts at the Service of Internal Medicine of the Hospital del Mar and the Hospital del Mar Medical Research Institute (IMIM) also participate in the paper (doi:10.1038/nature14878), which is led by Brent Richards, professor at McGill University (Montreal, Canada).

The study is part of a research line on bone pathologies developed by the Centre for Biomedical Network Research on Rare Diseases (CIBERER), led by professors Daniel Grinberg and Susana Balcells (Department of Genetics of the UB and IBUB) with the collaboration of experts on internal medicine from the Hospital del Mar and the IMIM.