INHERITED METABOLIC DISEASES IN HUMANS AND ANIMALS: MECHANISMS AND THERAPIES

A better understanding of metabolic diseases is the major challenge of this CECA Research Group that includes one thematic line. Our research focus is in the field of inherited metabolic diseases (IMD), and encompasses the biochemical and molecular basis of those disorders (both in humans and animals), including the development of innovative RNA therapies either disease- or mutation-specific, as well as the indispensable generation of disease cell models derived from patients.  

Currently, three research lines are being developed: 1) Discovery of new genes (and gene defects) involved in the etiologic architecture of IMDs, functional studies of novel variants as well as the study of the mechanisms and pathways affected in these pathologies; 2) establishment/development of cellular models for the study of cellular dysfunction and its correction mechanisms and 3) application of RNA therapies to exploit alternative therapies for IMDs both in vitro and in vivo. 

​The ultimate goal of our research is to design personalized medicine therapeutic approaches for individuals with these diseases, which depends directly on a systematic clarification of the molecular basis of the disease in each one.

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