Vall-Palomar M, Morata J, Duran M, Torchia J, Tonda R, Ferrer M, Sánchez A, Cantero-Recasens G, Ariceta G, Meseguer A, Martinez C
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype
PLoS Genet. 2025 Apr 2;21(4):e1011568
DOI: 10.1371/journal.pgen.1011568
IF: 3.7
RESEARCH GROUPS
Kidney physiopathology
20
Number of publications
85.00
%
% Q1
65.00
%
% D1
20.00
%
% Leadership
100.00
%
% Female Leadership
2.51
CROWN (2021-2025)
29.77
%
HCP10% (2021-2025)
75.00
%
% Open access
90.00
%
% International Collaboration
6
Highly cited papers / HCP 1% (2021-2025)
4
Publications in high-IF journals with high Altmetric scores
13
Number of Ongoing Projectes (total)
1
International ongoing projects
4
Number of New projects (total)
1
International new projects
14
Number of Active clinical Trials
2
Number of New Clinical Trials
1
Number of Theses
In 2025, our group advanced its translational research program in ultra-rare kidney diseases (FHHNC, Dent’s Disease type 1 and idiopathic nephrotic syndrome), with a strong focus on precision medicine. We launched a competitive national project to investigate gut–kidney crosstalk in nephrotic syndrome, integrating host genetics, microbiota profiling and glomerular models to define disease endotypes and biomarkers. In FHHNC, we expanded international patient cohorts, strengthened biobanking activities and validated candidate miRNA biomarkers in urinary extracellular vesicles. We also consolidated disease modelling through advanced cellular and CRISPR-based renal organoids together with the generation and initial characterization of a CLDN19 knock-in mouse model, enabling mechanistic studies and therapeutic testing. In parallel, we progressed in understanding ClC-5–mediated fibrosis in Dent’s disease, reinforcing our preclinical pipeline.
CORE/MISSIONS
- Innovative & Advanced Therapies
- Rare Diseases
- Transplant & Immunomodulation
PROGRAMS
TEAM
Group Leader
María Gema Ariceta Iraola
Principal Investigator (PI)
Cristina Martinez and Gerard Cantero Recasens
Researchers
Gloria Fraga, Héctor Rios, Victor Perez, Mercedes López-González, Alejandro Cruz, Carmen Larramendi, Saskia Natali Agamez Luengas
PhD Students
Julieta Torchia Pruzzo, Shuyue He, Andrea Casal Pardo
Lab Technicians
Eva Maria Pastor Arroyo, Soukaina el Mekkaoui, Laura Nasarre de Letosa Escalona
SELECTED PUBLICATIONS
Vaqueiro Graña M, Madariaga L, Gómez-Conde S, Iceta Lizarraga A, Hualde Olascoaga J, Ariceta G.
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants
Pediatr Nephrol. 2026 Dec;41(1):73-76. doi: 10.1007/s00467-025-06804-3. Epub 2025 Jun 26.
DOI: 10.1007/s00467-025-06804-3
IF: 2.6
Kavanagh D, Ariceta G, Vivarelli M, Schaefer F, Caravaca-Fontán F, Frémeaux-Bacchi V, Fakhouri F, Licht C, Pickering MC.
Current and Emerging Therapies for C3 Glomerulopathy and Primary (Idiopathic) Immune Complex Membranoproliferative Glomerulonephritis
Kidney Int Rep . 2025 Nov 5;11(1):17-31
DOI: 10.1016/j.ekir.2025.10.020.
IF: 5.7
Fakhouri F, Bomback AS, Ariceta G, Delmas Y, Dixon BP, Gale DP, Greenbaum LA, Han SH, Isbel N, Le Quintrec M, Licht C, Mastrangelo A, Mizuno M, Neves de Holanda MI, Pickering MC, Remuzzi G, Van De Kar N, Vivarelli M, Walker PD, Wallace D, Zecher D, Francois C, Deschatelets P, Li L, Wang Z, Abad-Franch L, Kinnman N, López-Lázaro L, Szamosi J, Nester CM; VALIANT Trial Investigators Group.
Trial of Pegcetacoplan in C3 Glomerulopathy and Immune-Complex MPGN.
N Engl J Med. 2025 Dec 4;393(22):2210-2220
DOI: 10.1056/NEJMoa2501510.
IF: 78.5
Bökenkamp A, Ariceta G, Böckenhauer D, Devuyst O, Emma F, van Bennekom D, Levtchenko E, Sayer J, Servais A, Vargas R, Zaniew M, Prikhodina L.
Dent disease: clinical practice recommendations.
Nephrol Dial Transplant. 2025 Apr 28;40(5):852-864.
DOI: 10.1093/ndt/gfaf003.
IF: 5.6
SELECTED PROJECTS
Precision medicine approaches in idiopathic nephrotic syndrome: discovery of novel diagnostic/ predictive biomarkers and therapeutic targets based on gut-microbiota-kidney crosstalk.
Principal Investigator: Cristina Martinez
Agency: Ministerio de Ciencia, Innovación y Universidades. Instituto de salud Carlos III. (PI24/00547).
Funding: 146,250 €
Period: 2025-2027
Precision modelling of FHHNC using genetically engineered patient-derived renal organoids.
Principal Investigator: Cristina Martinez
Agency: IX Convocatoria de Ayudas a la Investigación de Fundación FEDER
Funding: 25,000 €
Period: 2025-2026
Role of ClC-5 on renal fibrosis. Discovery of potential biomarkers and therapeutic targets for Dent’s Disease 1 progression
Principal Investigator: Gerard Cantero-Recasens
Agency: Ministerio de Ciencia e Innovación. Instituto de salud Carlos III (PI22/00741).
Funding: 123,420 €
Period: 2023-2027
Biomarkers, therapeutic targets and treatment strategies to improve the care of patients affected by Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC).
Principal Investigator: Gema Ariceta Iraola
Agency: Ministerio de Ciencia e Innovación. Instituto de salud Carlos III (PI22/01946).
Funding: 202,070 €
Period: 2023-2027
Validation of potential renal progression risk factors identified in the Spanish cohort of FHHNC patients
Principal Investigator: Gema Ariceta Iraola
Agency: European Society for Paediatric Nephrology General Grants 2025
Funding: 16,000 €
Period: 2025
PATENTS
Nucleic acid constructs and vectors for podocyte specific expression. (WO2023213738A1)
Priority Number: EP22382421.0
Priority Date: 02/05/2022
Applicants: 60% VHIR (UAB and ICREA) / 40% Ninevah
DISSEMINATION ACTIVITIES
47th Congress of the Spanish Society of Biochemistry and Molecular Biology
Place: Cáceres
Date: 02/09/2025
Brief: Julieta Torchia, Andrea Casal, PhD students in our group, and the PI Gerard Cantero Recasens presented the latest results on rare diseases (FHHNC, Dent's Disease) and clear cell renal cancer research lines.
1st ESPN Research Conference
Place: Florence (Italy)
Date: 20/03/2025
Brief: Julieta Torchia, PhD student, presented latest results on phenotype modifier gene variants identified in FHHNC (published in PLOS Genetics)
VII Jornada sobre hipomagnesemias hereditarias
Place: Sevilla
Date: 25/10/2025
Brief: Julieta Torchia, PhD student, and Cristina Martinez, PI, participated in this meeting aimed at bringing together patients, families, healthcare professionals, and researchers to share knowledge and experiences on hereditary hypomagnesemias. We presented our latest advances in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis and contributed to fostering collaboration to improve patient care and quality of life.
