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Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases

19th national competition for scientific and technical research

Rare diseases

Senior Researcher : Juan Antonio García Ranea

Research Centre or Institution : CIBERER. Universidad de Málaga


The low incidence in the population and the high etiological diversity of rare diseases make their clinical and therapeutic study difficult and expensive. Rare diseases comprise thousands of very diverse pathologies, and the only thing they all have in common is their low prevalence in the population (no more than 1 case per 2,000 inhabitants within the EU). Although individual rare diseases are of low prevalence, altogether they sum to thousands of pathologies, affecting about three million people in Spain, and 30 million in Europe, constituting a critical social health problem.

In this project we will develop methodology using systemic and integrated approaches, based on the exploitation of interaction networks, to study the genetic origin of rare diseases and find potential novel treatments. We want to test a new computational protocol with the aim of increasing efficiency when searching for new compounds and repurposing drugs to treat these diseases, commonly ignored by the industry due to their low economical return related to a complex and highly segmented market. In this project, a multidisciplinary team of clinical researchers and bioinformatics specialised in systems medicine will work together to investigate the practical application of biocomputational methods for the exploitation of interaction networks to predict new therapeutic targets and pharmacological treatments for four rare diseases. These diseases will be used in this study to optimize and validate the prediction pipeline and to provide proof of concept.

The integration of bio-computational prediction methods with the clinical and functional validation proposed in this work will help advance scientific knowledge about the molecular causes of the rare diseases under study. It will also lead to the identification of therapeutic targets for which to design new therapies based on in silico drug repositioning, and by testing the binding of new compounds through virtual screening.

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