Collaborative Research Center 1453
NephroGenetics
Kidney disease represents a global public health challenge. Chronic kidney disease alone affects 10-15% of adults and increases the risk for kidney failure, adverse cardiovascular outcomes, and mortality. Despite the high prevalence and the great costs associated with treating kidney diseases, the low number of clinical trials and specific treatments in nephrology attests to a shortage of therapeutic targets. The identification of druggable targets has been hampered by an incomplete understanding of the mechanisms underlying the etiology and progression of kidney diseases. Pharmacological compounds that operate on proteins or pathways connected to a given disease by human genetic evidence are at least twice as likely to gain approval, compared to those without genetic support. Therefore, the long-term vision of the CRC 1453 is to use evidence from genetic kidney diseases to identify, characterize, and modify molecules and pathways that represent targets to improve the prevention and treatment of kidney disease.
Seminars
Publications
Runge S, von Zedtwitz S, Maucher AM, …, Schell C, Boerries M, Strowig T, Andrieux G, Hild B, Rosshart SP. Laboratory mice engrafted with natural gut microbiota possess a wildling-like phenotype. Nat Commun (2025).
Peighambari A, Huang H, Metzger P, Adlesic M, …, Köttgen A, Schell C, …, Zeiser R, Heikenwalder M, Höfflin R, Boerries M, Frew I. Characterisation of an autochthonous mouse ccRCC model of immune checkpoint inhibitor therapy resistance. Sci Rep (2025).
Teng YH, Appiah B, Andrieux G, …, Hofmann AS, Ku M, Beyes S, Boerries M, Hecht A. TGF-β signaling redirects Sox11 gene regulatory activity to promote partial EMT and collective invasion of oncogenically transformed intestinal organoids. Oncogenesis (2025).
Konwar S, Schroda S, Rogg M, …, Grosse R, Schell C, Vidal S, Liu X, Gorzelanny C, Tschongov T, Häffner K. Thrombospondin-1 inhibits alternative complement pathway activation in antineutrophil cytoplasmic antibody-associated vasculitis. J Clin Invest (2025).
Wolff JM, Lang K, Chen M, …, Walz G, Abed A, Gerstner L, Bahar S, Ulbrich MH, Hermle T. Transgenic human nephrin in Drosophila nephrocytes facilitates variant analysis. Kidney Int (2025).
Ganner A, Ferrara AM, Sekula P, …, Walz MK, Köttgen A, Eng C, Neumann HPH, Neumann-Haefelin E. Genotype-specific neoplastic risk profiles in patients with VHL disease. Endocr Relat Cancer (2025).
Berns H, Weber D, Haas M, Bakey Z, Brislinger-Engelhardt MM, Schmidts M, Walentek P. A homozygous human WNT11 variant is associated with laterality, heart and renal defects. Dis Model Mech (2025).
Schlösser RM, Krumbach F, Corrales E, …, Boerries M, Becker K, Knüchel R, Garczyk S, Lüscher B. Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal-like and malignant urothelial cells. Mol Oncol (2025).
Planells-Cases R, Vorobeva V, Kar S, Schmitt FW, Schulte U, Schrecker M, Hite RK, Fakler B, Jentsch TJ. Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity. Nat Commun (2025).
Fernandez-Orth J, Koyunlar C, Weiss JM, …, Boerries M, Touw IP, Niemeyer C, Erlacher M, de Pater E. Hematological phenotypes in GATA2 deficiency syndrome arise from aging maladaptation to proliferation and somatic events. Blood Adv (2025).
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