Rare diseases are less in Malaga

The group Molecular Basis of Cell Proliferation, University of Malaga investigates this type of pathology from the field of systems biology that has made significant progress.

A week ago we celebrated the day of rare diseases, and almost everyone was the same as celebrating the day of unknown diseases. Certainly they were right under this title there are a set of heterogeneous, over which we have incomplete knowledge, affecting an unknown number of people who pose a challenge in terms of public health due to the fact file many chronic and disabling course, which require multidisciplinary interventions, and have a negative impact on those affected and their families.

Molecular biology is a specialty that has become the queen of all sciences, since it was discovered in 1953 the structure of DNA, the molecule that forms genes and is responsible for the transmission of heredity. This has allowed us to know that 80% of rare diseases are inherited due to genetic mutations, and identification of multiple genes responsible for these diseases is essential to advance knowledge at the molecular level of detail that triggered by the accumulation or lack of certain products of cell metabolism.

Several years ago, a research group belonging to our university, coordinated by Dr. Francisca Sanchez Jimenez, has addressed this problem from a different perspective and innovative, especially from systems biology and have made important progress.

To try to understand what his contribution to the study of rare diseases, we interviewed Dr. Francisca Sanchez Jimenez, she says systems biology is understood if we remember that a living system, such a cell, is an open and organized network, whose basic elements are the biomolecules and their interactions. But to get comprehensive information about him, as these living systems are a real puzzle, we need to integrate, organize and formalize the information. This previously very cumbersome and complex, today, is made possible by breakthrough collaboration between computing and biology, which has produced great benefits such as creating storage systems and biological data management and analytical programs, and predictive (which are capable of generating models).

With all this information, continues the doctor, we create models that allow us to meet new features on the role and means of intervention of a particular protein. We have to imagine the process by creating, from data obtained following application of mathematical models and optimization of results, molecular mechanics simulations so they can learn more precise details on the reaction mechanism and can be searched inhibitors or most effective activators. Thus, once characterized the causes of the diseases they may be counteracted by appropriate treatments.

In addition to this line of research into metabolic systems that is enabling the study of rare diseases, the group Molecular Basis of Cell Proliferation, also has two lines of work, angiogenesis and signal transduction and cancer. All these projects developed through regional, national and European.