Project Title: |
ArtDeco |
Project Type: |
Registry Adjunct biobank: DNA |
Disease group(s): |
Congenital malformations & ciliopathies |
Project Summary: |
The ArtDeco consortium is a Dutch Kidney Foundation consortium around congenital abnormalities of the kidney and urinary tract. Understanding the molecular aetiology is the key to devising personalized medicine strategies that change this alarming situation for individuals with CAKUT. Since the aetiology of CAKUT remains unknown in ≥80% of children4,5, the outcome remains unconnected to the underpinnings of developmental kidney defects for most patients. The low diagnostic yield also prevents clinicians from performing standardized genetic testing in CAKUT patients, which in return hampers additional gene discovery and better understanding of the disease aetiology. Since we integrate state-of-the-art molecular techniques and clinical data6, the ArtDECO consortium is indispensable for moving the clinical management of CAKUT patients forward. Central hypothesis and aims Better understanding of the molecular aetiology of CAKUT leads to a better clinical outcome for patients. The ArtDECO consortium aims to identify the missing links between causes and prognosis of CAKUT by: 10 1- Establishment of a nation-wide CAKUT data- and biobank; 2- Identification and functional characterization of genetic and environmental causes; 3- Gene-environment risk modelling and prediction of clinical outcome. |
Lead principal investigator(s): |
Rik Westland, Amsterdam |
Co-investigator(s): |
Albertien vanEerde, Utrecht Jaap Mulder, Rotterdam Michiel Schreuder, Nijmegen Nine Knoers, Groningen |
Project Period: |
01/2022 - 01/2027 |
Sponsors: |
Non-profit foundation |
Project web page: |
https://artdecostudy.nl/ |