Telomere diseases and experimental therapies

Most 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). Among them are dyskeratosis congenita and idiopathic pulmonary fibrosis. Our group contributes to the molecular diagnosis of these patients by determining telomere 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. The group also works in a second experimental project on the pathological bases and possible treatments of cutaneous squamous cell carcinoma.