Hospital Universitario Nuestra Seora de Candelaria

Unidad de Investigacin
Genetic diseases of the kidney and mRNA defects
Félix Claverie-Martín, Ph, D.
Principal Investigator.
Félix Claverie

Our lab is interested in the genetic and molecular basis of several renal hereditary diseases, particularly tubulopathies that present hypercalciuria, nephrocalcinosis and renal failure as common features. In last few years we have determined the genetic causes of two of these disease, Dent disease and familial hypomagnesemia with hipercalciuria and nephrocalcinosis (FHHNC), in more than sixty Spanish families. Our investigations are also aimed at determining the functional consequences of apparent missense and silent mutations, associated with renal diseases, in pre-mRNA splicing.

In collaboration with research groups from other Spanish hospitals we are trying to coordinate the efforts devoted to the diagnosis, treatment and prevention of primary tubular disorders in order to achieve a better clinical care and to improve the utilization, efficiency, accessibility, and quality of the recourses utilized by the National Health System in these diseases. For this purpose, and with funding from FIS, we have created a web page for primary renal tubulopathies RenalTube (www.renaltube.com)

Ongoing projects and financial support

  • Analysis of the effect of pathogenic missense variants in PKD1, PKD2 and CLCN5 pre-mRNA splicing
    Fondo de Investigaciones Sanitarias (ISCIII), Grant PI071037 (2008-2010).
  • Development of a clinical and molecular study system of primary tubular disorders to maximize the scientific achievement of the information and diagnostic procedures 
    Fondo de Investigaciones Sanitarias (ISCIII), Grant PI09/91009 (2010-2011).
  • Effect of missense mutations in pre-mRNA splicing of genes associated with two renal tubulopathies.
    Fundación Canaria de Investigación y Salud FUNCIS Grant PI17/09 (2010-2011).
  • Mantenimiento, ampliacin y mejora de Renaltube, un sistema de estudio clnico-molecular de tubulopatas primarias. FIS PI11/00342 (2012-2014).
  • Ayuda Merck Serono de investigacin 2011 en el rea de investigacin en Bases Moleculares de las Enfermedades Raras y sus Implicaciones Clnicas, por el proyecto titulado: Estudio Clnico Molecular de Tubulopatas Primarias. Fundacin SALUD 2000.