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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.

Research lines

Neurovascular Protection and Repair in Stroke

This research line focuses on developing new therapies for stroke patients centered on acute cerebroprotection and recovery repair. It places particular emphasis on identifying blood biomarkers to monitor recovery, investigating the mechanisms of injury and repair, and exploring novel treatments including nanomedicine and cell-therapy based, in experimental models of ischemic and hemorrhagic stroke.

IP: Anna Rosell Novel

Neurovascular Protection and Repair in Stroke

This research line focuses on developing new therapies for stroke patients centered on acute cerebroprotection and recovery repair. It places particular emphasis on identifying blood biomarkers to monitor recovery, investigating the mechanisms of injury and repair, and exploring novel treatments including nanomedicine and cell-therapy based, in experimental models of ischemic and hemorrhagic stroke.

IP: Anna Rosell Novel

Androgen activity in renal pathophysiology: Identification of androgen-regulated kidney-specific genes and functional characterization of them, in processes of inflammation, oxidative stress and fibrosis underlying chronic kidney disease, hypertension and metabolic syndrome.

Among the genes identified in our laboratory that are kidney-specific and regulated by androgens at the transcriptional level we are particularly focused on the one that codes for the kidney androgen-regulated protein (KAP). Besides characterization of  the functional promoter elements that enable KAP expression in proximal tubule epithelial cells, we have generated a transgenic (Tg) mouse model that overexpresses KAP in proximal tubule cells under the presence of androgens, in order to mimick the endogenous KAP expression pattern. KAP Tg mice show altered lipid metabolism, glycosuria, proteinuria and hypertension, as well as focal segmental glomerulosclerosis mediated by increased oxidative stress. We are currently working in this Tg model and also preparing conditional knock-out mice to further caharacterize the role of KAP in renal pathophysiology. Moreover, we are also studying the role of KAP in the metabolic syndrome. Besides KAP, we are studying the role of KAP-interacting immunophilins  in inflammation and kidney fibrosis.

IP: Androgen activity in renal pathophysiology: Identification of androgen-regulated kidney-specific genes and functional characteri

Focal segmental glomerulosclerosis

Idiopathic nonfamilial focal segmental glomerulosclerosis (FSG) is a disease with no treatment, whose usual outcome is end-stage renal disease frequently recidivating after transplantation. In close cooperation with the Nephrology and Paediatric Nephrology services of  Vall d'Hebron hospital together with hospitals throughout the country that provide a significant number of patients, we intend to identify the hypothetical blood factor that causes the proteinuria observed in this disease. Identification of such plasma factor, by means of differential proteomic analysis, would allow the definition of therapeutic targets for the disease, which currently lacks an effective treatment. Our second objective is to find biomarkers that enable us to foresee a potential recidivation and the consequent loss of the graft following renal transplantation to FSG patients.

IP: Joan López Hellin

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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.