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Research on nephronophthisis
Nephronophthisis is the most prevalent monogenic cause of renal failure in children. It can occur in an isolated form or as part of a syndrome. The KOUNCIL consortium investigates the genetic background of nephronophthisis and –related disorders using next-generation sequencing of the DNA of patients with suspected nephronophthisis. We are constructing an international database containing genotypic and phenotypic features to gain insight into early symptoms of nephronophthisis to enable early diagnostics in the future. In addition, we perform ‘drug screens’ zebra fish to identify novel therapeutic targets for nephronophthisis and –related disorders.
Inclusion of patients
We include nephronophthisis patients within the AGORA (Aetiologic research into Genetic and Occupational/Environmental Risk factors for Anomalies in children) biobank project (CMO Arnhem-Nijmegen 2006/048). This includes patients with suspected nephronophthisis in whom the diagnosis is not confirmed by DNA testing and patients with a molecularly confirmed diagnosis. From the latter group of patients, we would like to collect phenotypic information in the database and urine.
Until recently, it was only possible to include patients in the UMC Utrecht and the Radboudumc Nijmegen. We are now adding the other academic hospitals in the Netherlands as participating centers to the AGORA protocol, so that patients can be included in their own hospital. If your department is interested in participating in the KOUNCIL study, please contact us.
It also remains possible to refer your patients to the UMC Utrecht or the Radboudumc Nijmegen for inclusion in the KOUNCIL study. If you are treating a patient with (suspected) nephronophthisis that may be interested in participation in the KOUNCIL study, you can contact us via the contact details at the bottom of the page. We will provide you with patient information packages that contain a reply form on which patients can give permission to be contacted by a KOUNCIL researcher. Alternatively, you can refer patients to the reply form on this website.
If you refer a patient for inclusion, one of the KOUNCIL researchers with contact you to request phenotypic information and to discuss co-authorship in case the research related to the referred patient results in a scientific publication.
If patients and/or their parents have a genetic diagnostic question, you can order gene panel analysis of the known nephronophthisis genes directly in diagnostics.
Diagnostics at the UMC Utrecht
Gene panel diagnostics can be ordered by filling in the application form for DNA testing on the UMC Utrecht website
Diagnostics at the Radboudumc Nijmegen
Alternatively, you can order whole-exome sequencing at the department of Human Genetics of the Radboudumc Nijmegen. Whole-exome analysis currently requires the involvement of a clinical geneticist. For more information on whole-exome sequencing, With whole-exome sequencing, all the exons are analyzed after which filtering for a specific gene set is applied. The kidney panel and the ciliopathy panel are available for nephronophthisis patients. The application form for DNA testing in Nijmegen is available on the website. If the genetic cause of nephronophthisis is not detected with one of these diagnostic tests, it is possible to extend the analysis in research if the patient gives informed consent.
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