Stem Cell Research Institute, DIBIT-HSR Lab Profile
Research Focus: Gene Expression and Muscular Dystrophy
Although most cells contain an identical set of genes, they can be extremely diverse in appearance and function. It is the selective expression and repression of genes that determines the specific properties of individual cells.
Failure to repress genes appropriately has been connected to many human diseases, including neurodevelopmental diseases and cancer.
An important example of a genetic disorder associated to transcriptional imbalance is facioscapulohumeral muscular dystrophy (FSHD). FSHD is the third most common hereditary disease of muscle and it is not due to a classical mutation within a protein-coding gene. Our results suggest that FSHD is due to an epigenetic alteration causing transcriptional de-repression of selective genes. We have identified the specific gene whose over-expression causes FSHD and we generated the first animal model of the disease. A detailed study of this model will provide novel insights into the molecular pathogenesis of FSHD and allow the evaluation of therapeutic strategies.