Rare and Hereditary Kidney Diseases Working Group

The Rare and Hereditary Kidney Diseases working group at the Institute of Human Genetics is led by Dr. Bodo Beck; since 2010, this Group has been researching the genetic bases of kidney dysfunction. Their work primarily benefits people with rare and inherited kidney diseases and their families. It is performed in close cooperation with treating doctors at the children's hospital and other specialist biomedical disciplines children's hospital and other specialist biomedical disciplines. Our Working Group is an integral part of the Cologne Center for Rare Diseases.

Functional research in rare genetic defects of the kidney has already led to a better understanding of this complex organ and its dysfunction. Increasingly, the results have therapeutic consequences and there is currently no end in sight to the progress of the research findings. In addition to a broad repertoire of functional laboratory analyses, we also use animal models (zebra fish and mice) and various cell models in our work. Working closely with Dr. Janine Altmüller’s working group at the Cologne Center for Genomics, we use state-of-the-art genetic analysis methods in our ongoing projects, such as genome analysis, molecular combing, linked-read sequencing, nanopore sequencing and single-cell transcriptome analysis (Cologne Center for Genomics). 

Particular clinical areas of focus include hereditary kidney stone diseases, steroid-resistant nephrotic syndromes (SRNS), atypical hemolytic-uremic syndrome (aHUS), tubulointerstitial kidney diseases, cystic kidney diseases, genetic forms of high blood pressure and kidney disorders that are manifested prenatally, as well as rare diseases that lead to severe kidney dysfunction. The Working Group is also researching the use of innovative (cell-free) DNA analyses and bioinformatics (F. Erger) in novel clinical applications, within and beyond the spectrum of kidney diseases.

External funding
2019–2020 DFG (German Research Foundation), BE 6072/3-1, Genomics of steroid-resistant nephrotic syndrome and recurrent forms (jointly with Dr. J. Altmüller)
2019–2020 Cologne Fortune Program of the Faculty of Medicine, KF472/2018, Long read sequencing in kidney diseases
2018–2020  DFG, BE6072/2-1, KFO 329 Disease pathways in podocyte injury- from molecular mechanisms to individualized treatment options. Research Project 8: Genomic profiling and epigenetic biomarker discovery in steroid resistant nephritic syndrome (gemeinsam mit Dr. J. Altmüller)
2017–2019   Faculty of Medicine & Faculty of Mathematics and Natural Sciences, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Project C1 B. Beck (CoPI Dr. J. Altmüller) Rare renal disorders identify core aspects of renal homeostasis - an integral approach to discover fundamental molecular principles of the kidney
2016–2019 DFG, BE6072/1-1, E-Rare JTC 2015, ERAdiCATPH, Development of new innovative therapy strategies for primary hyperoxaluria type 1, Coordinator
2014–2016  German Israeli Foundation (GIF), I-1216-328.2, Translational inhibition of mutant alanine glyoxylate aminotransferase
Selected publications

Bartram MP, Habbig S, Pahmeyer C, Höhne M, Weber LT, Thiele H, Altmüller J, Kottoor N, Wenzel A, Krueger M, Schermer B, Benzing T, Rinschen MM, Beck BB.

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.

Hum Mol Genet. 2016;25(6):1152-64.

PubMed PMID: 26740551 

Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel AReusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.
PubMed PMID: 27120771 

Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Pediatr Nephrol. 2017;32(5):733-741

PubMed PMID: 27289364

Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB.

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0.

PubMed PMID: 29520014

Belostotsky R, Lyakhovetsky R, Sherman MY, Shkedy F, Tzvi-Behr S, Bar R, Hoppe B, Reusch B, Beck BB, Frishberg Y.

Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.

J Mol Med (Berl). 2018 Jul;96(7):621-630. doi: 10.1007/s00109-018-1651-8. Epub 2018 May 18.
PubMed PMID: 29777253 

Erger F, Burau K, Elsässer M, Zimmermann K, Moog U, Netzer C. 

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.

Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0195-2. [Epub ahead of print]

PubMed PMID: 29891879

Knaup KX, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, Schueler M, Seven D, May AM, Halbritter J, Gröne HJ, Reis A, Beck BB, Amann K, Ekici AB, Wiesener MS.
Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.

J Am Soc Nephrol. 2018 Sep;29(9):2298-2309. doi: 10.1681/ASN.2018030245. Epub 2018 Jul 26.

PubMed PMID: 30049680 

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.

PubMed PMID: 30388404 

Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F.

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003.

PubMed PMID: 30609407 

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. 

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 
Am J Hum Genet. 2019 Aug 1;105(2):384-394
PubMed PMID: 31256876 

Assistant Prof. Dr. Bodo Beck

Assistant Prof. Dr. Bodo Beck

Senior Physician

Medical specialist in Human Genetics
Specialist in Paediatric and Adolescent Medicine, as well as Paediatric Nephrology

+49 221 478-86824


Björn Reusch, M. Sc., PhD candidate
Andrea Wenzel, M. Sc., PhD, postdoctor

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