Group van Eerde, Nephrogenetics Group

• Dr. Albertien van Eerde, MD, PhD, clinical geneticist, associate professor translational nephrogenetics
• Drs. Laura Claus, MD, PhD-student
• Drs. Margriet Gosselink, MD, PhD-student
• Drs. Iris Lekkerkerker, MD, PhD student
• In close collaboration with Bert van der Zwaag, laboratory specialist clinical genetics
• n close collaboration with Dr. Gijs van Haaften, associate professor

As part of the Centre of expertise on hereditary and congenital kidney disease and urinary tract anomalies, the Nephrogenetics group of the Department of Genetics in the UMC Utrecht contributes to new developments by conducting basal scientific, translational, and clinical research in the field of inherited kidney diseases. 

Research projects uitklapper, klik om te openen

The UMC Utrecht is a centre of expertise on hereditary and congenital kidney disease and urine tract anomalies. For more patient information on how hereditary (kidney) diseases work, see this short Dutch video or this webinar on hereditary kidney disease. You can also visit this website (Dutch) for more information. See text below to find more links to useful patient information on hereditary kidney diseases.

Our centre of expertise is affiliated with ERKnet, the European Reference Network for rare kidney disease. We also contribute to ERKReg. Part of the scientifical research we conduct, is sponsored by grants, such as GeNepher biobank (Dutch Kidney Foundation), the ARTDECO consortium (Dutch Kidney Foundation) and the PREGeNEPH registry (Elisabeth von Freyburg Stichting).

Studies that are being conducted concern both cohort studies (in groups of people) and individual cases from clinical care. These are genetic and epidemiologic studies as well as functional studies focusing on discovering the disease mechanisms of genetic variants in different model systems. We work together with many (inter)national research groups to achieve our main research goals, being:

• To gain insight into the etiology of kidney diseases, with specific focus on the genetic background.
• To establish improvement of clinical care for patients with kidney diseases.

Examples of current areas of research conducted within the Expert Centre are: uitklapper, klik om te openen

• (New) genes that cause hereditary kidney disease in the GeNepher biobank, including modifiers (NPHP1 consortium)
• Identification of genetic causes for congenital abnormalities of kidney and urinary tract (CAKUT) in the ArtDECO consortium: https://artdecostudy.nl/
• The multicenter AGORA data and biobank for collection of DNA and questionnaire data on children with CAKUT and their parents in collaboration with Amsterdam UMC, Radboudumc, LUMC, and Erasmusmc.
• Genetic studies in ciliopathies and tubulopathies (IMAGEN consortium)
• Using RNA-sequencing data to build co-expression networks to predict and prioritize genes involved in kidney disease (KidneyNetwork)
• The multicenter PREGeNEPH network which investigates hereditary or rare kidney diseases and pregnancy, such as the ALPART-study: mAternal and fetal PregnAncy outcomes of women with AlpoRT syndrome
• Ciliopathies (cilia related kidney diseases, such as nephronophthisis)
• Hereditary causes of kidney failure at young adult age

Influence of specific genes on kidney development (regenerative health care and stem cells)

Publications uitklapper, klik om te openen

• NCBI dr. Albertien van Eerde
• Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333.
• Westland R, Renkema KY, Knoers NVAM. Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract. Clin J Am Soc Nephrol. 2020 Dec 31;16(1):128-137. doi: 10.2215/CJN.14661119. Review.
• Stokman MF, Bijnsdorp IV, Schelfhorst T, Pham TV, Piersma SR, Knol JC, Giles RH, Bongers EMHF, Knoers NVAM, Lilien MR, Jiménez CR, Renkema KY. Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies. J Proteomics. 2019 Feb 10;192:27-36. doi: 10.1016/j.jprot.2018.07.008.
• Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatr Nephrol. 2018 Oct;33(10):1701-1712. doi: 10.1007/s00467-018-3958-7.
• Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.  Kidney Int. 2016 Feb;89(2):476-86. doi: 10.1038/ki.2015.319.
• Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV. Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol. 2015 Dec;11(12):720-31. doi: 10.1038/nrneph.2015.140. Review.
• Floranne Boulogne, Laura R. Claus, Henry Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, Shuang Li, Harm-Jan Westra, Bert van der Zwaag, Franka van Reekum, Dana Sierks, Ria Schönauer, Jan Halbritter, Nine V.A.M. Knoers, Genomics England Research Consortium, Patrick Deelen, Lude Franke, Albertien M. van Eerde. KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease. https://www.medrxiv.org/content/10.1101/2021.03.10.21253054v2
• Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium, Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. PMID: 35227688. 

More information for patients uitklapper, klik om te openen

If you are a patient with a (hereditary) kidney disease and are looking for more information, visit the Expert Centre website by clicking this link.