Rare Diseases are medical conditions characterized by a low prevalence (< 50 people per 100,000 inhabitants). However, since the number of such conditions currently exceeds 6,000, taken together, they affect a considerable number of people. In Spain, this figure is around three million of citizens. The large majority of Rare Diseases have a genetic origin, which in some cases is still unknown, and are highly heterogeneous. The scarcity of treatments and the difficulties to obtain a diagnosis are common problems associated with these pathologies.  

The laboratories that constitute the Department of Rare Diseases are focused on the study of the genetic causes and molecular mechanisms of a number of these diseases. Our objective is to improve diagnosis and promote the design of new therapies. To this aim, we combine genetic studies with functional analysis comprising molecular and cellular biology techniques and histopathological procedures. These studies are conducted on tissue samples and cell lines of human origin, as well as in model organisms generated by genetic modification of mice, the yeast Saccharomyces cerevisiae, or the amoeba Dictyostelium discoideum. These model organisms are invaluable tools to uncover the pathophysiological processes underlying each disease and thereby identify possible therapeutic targets.

The research conducted at the Department of Rare Diseases has a strong translational component. We cooperate with clinical groups from different Health Institutions in research projects, development of functional and genetic tests and in the search for new treatments. The connection of our laboratories with others working on Hospitals helps promoting research in Rare Diseases and the transfer of knowledge.