Telomeric Diseases and Experimental Therapies
Many of our projects are centred in the study of rare diseases related to the maintenance of the telomeres, named telomeropathies or telomere biology disorders (TBDs). They are multi-systemic diseases with a serious impact on the life of the affected patients. Among them are dyskeratosis congenita and idiopathic pulmonary fibrosis. Our group contributes to the molecular diagnosis of these patients by determining telomeres length as diagnosis biomarker. In addition, the genetic bases of the disease are determined by exome sequencing. From an experimental view, a functional study of the mutations found in the patients is made. Our group also investigate possible advanced therapies based on the use of peptides and the development of vectors for gene therapy. Cellular and animal models of these diseases are being developed to search their biological bases and to test the effect of the drugs under study.
The group also works in a second experimental project on the pathological bases and possible treatments of cutaneous squamous cell carcinoma. The development of these tumours is related to environmental factors such as sun exposure and is very prevalent in the population. These projects are centred on the possible function of the dual-specificity protein phosphatase DUSP1 and on the molecular mechanisms that regulate its expression in these tumours.