Genetics and Pathophysiological Mechanisms of Congenital Anomalies

The Genetics and pathophysiological mechanisms of Congenital Anomalies group conducts research in Human Genetics. Our main goal is the identification of new genes responsible for Rare Diseases associated with developmental anomalies, and the characterization of the molecular pathomechanisms leading to these conditions.

Our methodology includes a comprehensive approach to each disorder that combines Genetic techniques such as the analysis of variants from Next-Generation Sequencing (NGS), with the generation and study of cellular and animal models suitable for the analysis of each condition. The objective of our research is to improve diagnosis and to establish the molecular and cellular pathology underlying developmental disorders. This knowledge may represent the starting point for the development of new therapeutic strategies. Simultaneously, our studies provide valuable information about the function of the genes we identify as disease-causing in the different organs and tissues of the human body, and increase the understanding of the biological processes that take place during embryonic development.

In collaboration with national and international clinical and research groups, our laboratory has made contributions to the field of Human Genetics, including: 1) the identification of new genes responsible for osteogenesis imperfecta; 2) the association of developmental anomalies with mutations in the genes encoding the catalytic subunits of the cyclic AMP-dependent protein kinase, PRKACA and PRKACB; and 3) the identification of mutations in FXR1 and MAPKAPK5 as new causes of congenital multiminicore myopathy and neurocardiofaciodigital anomalies, respectively.

On the other hand, our group has been studying the pathology associated with Ellis-van Creveld syndrome for some time. This disorder is mainly caused by mutations in EVC or EVC2 , which are genes encoding proteins located at the base of the primary cilium that act as positive mediators of Hedgehog (Hh) signaling.  Primary cilia and Hh signaling are involved in a considerable number of developmental. In this sense, our laboratory has an interest in improving knowledge on the biology of the primary cilium and on Hh signaling, an evolutionarily conserved intercellular communication pathway that is critical for the development of the large majority of vertebrate organs.

Lines of research:

  1. Genetics and Pathophysiological Mechanisms underlying Ellis-van Creveld syndrome and other ciliopathies.
  2. Genetics and Pathophysiological Mechanisms underlying osteogenesis imperfecta and other musculoskeletal disorders.
  3. Identification and characterization of new genes responsible for Congenital Anomalies.




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Metabolic and Immune Diseases

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Neurological Diseases and Aging

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Rare Diseases

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