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The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Renkema, KY; Giles, RH; Lilien, MR; Beales, PL; Roepman, R; Oud, MM; Arts, HH; (2018) The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis. Frontiers in Pediatrics , 6 , Article 131. 10.3389/fped.2018.00131. Green open access

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Abstract

Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation. Therapeutics to significantly delay or prevent end-stage renal disease (ESRD) in children are currently not available. In the Dutch-Anglo KOUNCIL (Kidney-Oriented UNderstanding of correcting CILiopathies) consortium, several groups and specialties united to perform scientific groundwork with the aim to develop genetic and therapeutic personalized care for NPH patients. At the start of this consortium, a genetic diagnosis for NPH was available for only 30–40% of patients, which improved to 50–60% during the course of the 4-year KOUNCIL project. Other major accomplishments of the consortium were (1) the establishment of a Dutch renal ciliopathy patient database with genotype and phenotype data; (2) composition of a proteomics-based integrated network of protein modules disrupted in NPH; (3) the development of non-invasive, urine-based assays that allow functional assessment of genomic variants in NPH and of therapeutic efficiency of drugs; and (4) chemical screening toward the identification of compounds that delay or prevent disease progression in NPH, which resulted in four potential medical interventions for NPH. In conclusion, the KOUNCIL consortium effectively channeled complementary approaches to broaden our understanding of NPH pathogenesis, resulted in 54 publications, improvement of genome diagnostics for NPH patients, awareness in the nephrology and clinical genetics communities for NPH, and new avenues for patient management.

Type: Article
Title: The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fped.2018.00131
Publisher version: http://dx.doi.org/10.3389/fped.2018.00131
Language: English
Additional information: © 2018 Renkema, Giles, Lilien, Beales, Roepman, Oud, Arts and Knoers. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: Science & Technology, Life Sciences & Biomedicine, Pediatrics, cilia, pediatric kidney disease, nephronophthisis, renal ciliopathy, genetics, ASPHYXIATING THORACIC DYSTROPHY, JOUBERT SYNDROME, CAUSE JEUNE, MUTATIONS, CILIOPATHIES, TRANSPORT
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10051306
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