Rare and hereditary kidney diseases working group
Main research areas
The Rare and Inherited Kidney Disease Research Group, headed by Dr. Bodo Beck, has been researching the genetic basis of kidney dysfunction at the Institute of Human Genetics since 2010. This work primarily benefits people affected by rare and hereditary kidney diseases and their families and is carried out in close collaboration with the treating physicians at the Children's Hospital and other specialist biomedical disciplines. Our working group is an integral part of the Center for Rare Diseases Cologne.
Functional research into rare genetic defects of the kidney has already led to a better understanding of many aspects of this complex organ and its dysfunction. These findings also have increasing therapeutic consequences and there is currently no end in sight to the progress in knowledge. In addition to a broad repertoire of functional laboratory analyses, we also use animal models (zebrafish and mouse) and various cell models. In close collaboration with Dr. Janine Altmüller's working group at the Cologne Center for Genomics, we apply the latest methods of genome analysis in our ongoing projects, such as genome analysis, molecular combing, linked-read sequencing, nanopore sequencing or single-cell transcriptome analysis(Cologne Center for Genomics).
Particular clinical focus is placed on hereditary kidney stone diseases, steroid-resistant nephrotic syndromes (SRNS), atypical hemolytic uremic syndrome (aHUS), tubulointerstitial kidney diseases, cystic kidney diseases, genetic forms of hypertension, prenatal renal diseases and rare diseases that lead to severe renal dysfunction. Furthermore, the working group is researching the application of innovative (cell-free) DNA analyses and bioinformatic questions (F. Erger) for new clinical applications within and outside the renal disease spectrum.
| 2019-2020 | DFG, BE 6072/3-1, The genomics of steroid-resistant nephrotic syndrome and recurrent forms (together with Dr. J. Altmüller) |
| 2019-2020 | Cologne-Fortune Program of the Faculty of Medicine, KF472/2018, Longread sequencing in renal 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 (together with 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 therapeutic strategies for primary hyperoxaluria type 1, Coordinator |
| 2014-2016 | German Israeli Foundation (GIF), I-1216-328.2, Translational inhibition of mutant alanine glyoxylate aminotransferase |
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 A, Reusch 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
