Stem Cell and Reprogramming, Rare Diseases
One of our primary objectives is to develop cell models for cell reprogramming in order to advance understanding and develop new therapeutic strategies for different rare diseases such as primary hyperoxaluria. This is a metabolic disorder that affects one in every 100,000 to 500,000 individuals. In our laboratory, we are interested in a cell model for this disease to generate iPSCs from patients' somatic cells, in which we can study deficiencies in development, differentiation and functionality, as well as the characteristics of the hepatocytes in this pathology. All of this involves a significant advancement for the future treatment of such diseases, whether from a pharmacological perspective or through gene-cell therapy of genetically corrected stem cells.
In addition, we are looking for a pharmacological treatment that reduces the progressive deterioration caused by Duchenne muscular dystrophy, a congenital muscle disease that affects 1 in every 3,500 males and currently lacks effective treatment. The objective is to increase the efficacy of therapeutic cells (myogenic precursors) in repairing this tissue. We are also interested in gene-cell treatment, which will allow for the use of myogenic progenitor cells from the same patient once the dystrophic-coding gene mutation is corrected in vitro.
Potencial de la edición génica in vivo mediante CRISPR/Cas para el tratamiento y modelado de Hiperoxaluria Primaria
Convocatoria: Proyectos de I+D en Salud. AES 2016
Título: “Potencial de la edición génica in vivo mediante CRISPR/Cas para el tratamiento y modelado de Hiperoxaluria Primaria”
I. P.: Juan Roberto Rodríguez Madoz
Duración: 3 años
F. Inicio: 01/01/2017 F. Fin: 31/12/2019
Financiado: Por el Instituto de Salud Carlos III y cofinanciado por el Fondo Europeo de Desarrollo Regional (FEDER) “Una manera de hacer Europa”.
"Our goal is to understand the mechanisms and orient new therapeutic strategies in primary hyperoxaluria and Duchenne muscular dystrophy", Dra. Xonia Carvajal, Principal Investigator.