for Physicians
for Patients

Research Project

Project Title:

Genome and transcriptome study in patients with non-associated nephropathy with suspected monogenic cause

Project Type:

 Translational research

Disease group(s):

 Hereditary glomerulopathies, Tubulopathies, AD structural kidney disorders, Congenital malformations & ciliopathies

Project Summary:

 Objectives: Primary: To improve the genetic diagnostic yield of patients with suspected monogenic nephropathy, with previous negative genetic tests (gene panel/exome/MUC1), incorporating new genomic techniques that can contribute to identify the etiological diagnosis of their kidney disease. Secondary: 1. To assess the diagnostic yield of whole genome sequencing. 2. To assess the diagnostic yield of targeted RNA sequencing. 3. To determine the pathogenicity of variants of uncertain significance (VUS) predicted to alter splicing. 4. To determine the contribution of unreported patterns of inheritance for different genes known to cause hereditary nephropathies. Methodology: 1. Whole genome sequencing in 50 selected patients with kidney disease of suspected genetic etiology, in whom previous genetic studies (gene panel / whole exome / MUC1) have failed to identify the cause of the disease. 2. Targeted RNA sequencing in patients in whom the monogenic cause has not been identified in objective 1. 3. Functional studies (RT-PCR, minigenes) of 50 patients with VUS with possible splicing alteration. 4. Analyze genotype-phenotype correlations of possible new models of inheritance of known renal genes in patients with atypical phenotype.

Lead principal investigator(s):

 Elisabet Ars, Barcelona

Co-investigator(s):

 Raquel Saez Villaverde, Barcelona
Gloria-María Fraga, Barcelona

Project Period:

 01/2024   -   01/2026

Sponsors:

 National funding agency
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