Lab news

  • Our group is the first recipient of the Oliver Wrong Research Program Award, August 22, 2022, from the Dent Disease Foundation (USA). This is to be applied towards the grant titled “Pre-clinical trial of VX-809 (lumacaftor) for the treatment of Dent disease-1 in a knock-in mouse model”.
  • Our group received an award for the best oral presentation at the 45th Meeting of the Spanish Pediatric Nephrology Association, A Coruña, Spain (25-28 of May, 2022). Title: El tratamiento con dos chaperonas químicas reduce la proteinuria de bajo peso molecular en un modelo de ratón de la enfermedad de Dent-1.
  • Ana Perdomo-Ramírez A successfully defended her Ph.D. thesis entitled “Análisis genético y molecular de tubulopatías primarias y utilización de un ratón knock-in para investigar una estrategia terapéutica en la enfermedad de Dent-1.” (April 1th, 2022).
  • Our group received an award for the second best oral presentation at the XLIII Meeting of the Spanish Pediatric Nephrology Association, Valencia, Spain (19-22 of May, 2018). Title: DENT-1 DISEASE MUTATIONS ALTERING ClC-5 CELL LOCALIZATION AND GENERATION OF A KNOCK-IN MOUSE.
  • Amelia Trindade spent one year in our lab on sabbatical leave from the Universidade Federal de São Carlos, São Carlos, Brazil. (2016-2017).
  • Our group received an award for the best oral presentation at the XLII Meeting of the Spanish Pediatric Nephrology Association in Madrid, Spain (17-20 of May, 2017). Title: “SLC22A12 and SLC2A9 mutations in Spanish patients with renal hypouricemia.”
  • Elena Ramos Trujillo successfully defended her Ph.D. thesis entitled “Identification of CLCN5 and OCRL mutations associated with Dent disease and characterization of pre-mRNA splicing defects” (January 2016).
  • Lorena Suarez Artiles successfully defended her master thesis entitled “Identification and characterization of OCRL mutations causing Lowe syndrome or Dent-2 disease” (September 2015).
  • On February 2019, the lab celebrated the processing of sample number 1000