Nephrotic syndrome in children and young adults is a medical problem of diverse pathophysiology and prognosis. Current diagnostic algorithms fail to avoid under- and overtreatment with toxic drugs as defining the underlying cause is difficult. We developed a diagnostic algorithm to stratify patients through advanced genetic testing, reverse phenotyping, and personalised disease models. This can double the current diagnostic rate in patients not responding to therapy and to predict disease relapse in those that progress to end stage kidney disease and undergo kidney transplant.

The aims of this project are:

1. Implementation of this diagnostic algorithm in selected European sites by a) selecting patients for a genetic testing, b) whole exome sequencing, c) validating genotype-phenotype correlation, and d) assessment of variants of unknown significance by functional studies with patient urine-derived renal progenitors disease models.
2. Personalising the assessment of non-genetic forms and of relapse after transplant by identifying patients negative to the genetic testing and with proteinuria relapse after kidney transplant, as well as personalising the detection of immunologic factors by super resolution microscopy and circulatory permeability factors by 3D organ-on-a-chip model system.
3. Assessing the cost-effectiveness as well as clinical, ethical, and legal consequences of this algorithm.

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