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Kidney Physiopathology

Our main scientific interest is to understand, from a multidisciplinary and translational approach, the molecular and cellular processes leading to renal dysfunction in several kidney pathologies. Specifically, our research lines are

  • to study the pathophysiology of inherited rare renal tubulopathies
  • to understand the mechanisms of kidney injury and regeneration
  • to study the development of clear cell renal cell carcinoma (ccRCC)
  • the study the impact of androgens on those processes.

We are experts on the following areas:

  • the generation of cellular disease models carrying specific gene alterations,
  • genetically modified animal models and gene therapies,
  • life-imaging high-resolution microscopy
  • working with patients’ samples for translational research.

To sum up, our research main objective is to combine –omic data from cellular and animal models with patients’ data to identify novel biomarkers and possible treatments for several renal diseases.

Team

Julieta Torchia

Julieta Torchia

Predoctoral researcher
Kidney Physiopathology
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Laura Nasarre De Letosa Escalona

Laura Nasarre De Letosa Escalona

Research technician
Kidney Physiopathology
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Mercedes López González

Mercedes López González

Main researcher
Kidney Physiopathology
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Mónica Durán Fernández

Mónica Durán Fernández

Postdoctoral researcher
Kidney Physiopathology
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Soukaina El Mekkaoui Laajoun

Soukaina El Mekkaoui Laajoun

Research assistant
Kidney Physiopathology
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Alejandro Cruz Gual

Alejandro Cruz Gual

Research technician
Kidney Physiopathology
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Julieta Torchia

Julieta Torchia

Predoctoral researcher
Kidney Physiopathology
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Laura Nasarre De Letosa Escalona

Laura Nasarre De Letosa Escalona

Research technician
Kidney Physiopathology
Read more
Mercedes López González

Mercedes López González

Main researcher
Kidney Physiopathology
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Mónica Durán Fernández

Mónica Durán Fernández

Postdoctoral researcher
Kidney Physiopathology
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Soukaina El Mekkaoui Laajoun

Soukaina El Mekkaoui Laajoun

Research assistant
Kidney Physiopathology
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Alejandro Cruz Gual

Alejandro Cruz Gual

Research technician
Kidney Physiopathology
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Research lines

Rare inhirited renal diseases

Our group is focused in research in primary or inherited tubular renal diseases, such as Dent’s Disease, Bartter syndrome, Tubular Acidosis, Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis, among others. Currently we are collaborating  with other groups in Spain, within a research project named Renaltube the main purpose of which is to build a database while facilitating access to genotyping in order to improve the clinical and molecular knowledge of primary tubulopathies. Renaltube has a web-based approach with multilateral collaboration scheme that enhances the recruitment of data and promotes the understanding of underlying mechanisms of rare inherited diseases, defines more accurate diagnostic and follow-up criteria, develops new molecular techniques and will improve the overall care of the patients. Currently we are offering the analysis of 22 genes corresponding to 23 primary tubulopathies. After two years of activity Renaltube has collected data from 222 patients, the mayority from Spain and Latin America (85.3%). The most common tubulopathies are distal renal tubular acidosis (22.5%), and classical Bartter syndrome (19.3%) followed by familial hypomagesemia with hipercalciuria and nephrocalcinosis (15.7%), and Gitelman syndrome (15%).

IP: Gema Ariceta Iraola

Role of HAVRC/KIM-1 in the development and progression of the renal clear cell carcinoma (ccRCC) and in the damage/regeneration renal tubular processes

Overexpression of this protein in 60% of the ccRCCs has already been described. HAVR/KIM-1 overexpression in human ccRCC cell lines blocks cell differentiation and promotes cell scattering. We aim to determine the role of HAVR/KIM-1 in the development and progression of ccRCC, and its possible value as a diagnostic and prognostic biomarker. We also focus on KIM-1’s role in ischemia/reperfusion- or nephrotoxic-induced renal tubular injury. Overexpression of this protein in kidney injury has been described. However, whether its involvement is associated with processes enabling to recover tubular epithelium or potentially increasing damage is not known to this date. With the assistance of cultured renal tubular cell models, we are now investigating whether KIM-1 expression shifts are correlated with renal proximal tubule regeneration ability and, as a consequence, investigating its potential therapeutic application.

IP: Role of HAVRC/KIM-1 in the development and progression of the renal clear cell carcinoma (ccRCC) and in the damage/regeneration

Projects

Contribución de la microbiota intestinal en la progresión del daño renal de pacientes con hipomagnesemia familiar con hipercalciuria y nefrocalcinosis

IP: Gema Ariceta Iraola
Collaborators: Cristina Martínez Martínez, Julieta Torchia
Funding agency: AIRG - ESPAÑA
Funding: 10000
Reference: CGE/ARICETA/2023
Duration: 01/01/2024 - 01/01/2025

Caracterización de la respuesta inmune celular específica frente al virus Epstein-Barr en receptores de trasplante renal pediátrico (CRICE-VEB)).

IP: Mercedes López González
Collaborators: Gema Ariceta Iraola, Laura Donadeu Casassas, Delphine Kervella
Funding agency: Sociedad Española de Trasplantes
Funding: 20000
Reference: SET/AYUDAS.PROYECTOS/2023/LOPEZ
Duration: 01/01/2024 - 31/12/2025

RED NACIONAL DE LABORATORIOS DE FUNCION RENAL

IP: Francesc Moreso Mateos
Collaborators: Gema Ariceta Iraola, Joan López Hellin
Funding agency: Instituto de Salud Carlos III
Funding: 42900
Reference: PMP22/00119
Duration: 01/01/2023 - 31/12/2025

La variabilidad fenotípica en pacientes afectados de Hipomagnesemia Familiar con Hipercalciuria y Nefrocalcinosis (HFHNC) como oportunidad para entender las bases fisiopatológicas de la enfermedad y para la búsqueda de soluciones terapéuticas

IP: La variabilidad fenotípica en pacientes afectados de Hipomagnesemia Familiar con Hipercalciuria y Nefrocalcinosis (HFHNC) como o
Collaborators: Gema Ariceta Iraola, Gerard Cantero Recasens
Funding agency: Sociedad Española de Nefrología (S.E.N.)
Funding: 24000
Reference: SENEFRO/PROJECTES/2023/MESEGUER
Duration: 27/11/2023 - 26/11/2025

Blog

News

Funding has been obtained for 43 projects under the calls for Health R&D&I Projects, Health Technology Development, and Independent Clinical Research

The aim of the project is to establish kidney organoids derived from patients with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis, which will be essential tools for studying the disease and testing new treatments.

The work identifies variants in genes such as NFU1 that, combined with the disease-causing mutation, can accelerate kidney deterioration.