Research Project

Project Title:

Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Outcome

Project Type:

Translational research

Disease group(s):

Congenital malformations & ciliopathies

Project Summary:

Understanding the molecular aetiology is the key to devising personalised medicine strategies that change this alarming situation for individuals with CAKUT. Since the aetiology of CAKUT remains unknown in ≥80% of children, the outcome remains unconnected to the underpinnings of developmental kidney defects for most patients. Further, the current low diagnostic yield prevents clinicians to perform standardized genetic testing in CAKUT patients, which in return hampers additional gene discovery and better understanding of disease aetiology. Since we integrate state-of-the-art molecular techniques and experiments with clinical data, the ArtDECO consortium is indispensable for moving clinical management of CAKUT patients forward.

Lead principal investigator(s):

Rik Westland, Amsterdam

Project Period:

01/2022   -   01/2027

Sponsors:

Non-profit foundation, National funding agency

Project web page:

artdecostudy.nl

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