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
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).
Andreev G, Vollmer T, Zirngibl M, Werner M, Grabbert M, Schilling O, Rogg M, Schell C. Spatial correlation of the extracellular matrix to immune cell phenotypes in the tumor boundary of ccRCC revealed by cyclic immunohistochemistry. Lab Invest (2025).
Wiegel J, Helmstädter M, Walz G, Bergen M. Spontaneous Calcium Bursts Organize the Apical Actin Cytoskeleton of Multiciliated Cells. Int J Mol Sci (2025).
Wess M, Rogg M, Gueib-Picard C, …, Feilen T, Andreev G, Werner M, Frew I, Grabbert M, Schilling O, Schell C. Versatile roles of annexin A4 in clear cell renal cell carcinoma: Impact on membrane repair, transcriptional signatures, and composition of the tumor microenvironment. iScience (2025).
Walentek P. Mucociliary cell type compositions – bridging the gap between genes and emergent tissue functions. Cells Dev (2025).
Tschongov T, Konwar S, Kleindienst J, Dabrowska-Schlepp P, Busch A, Schaaf A, Schell C, Rogg M, Häffner K. Effective long-term treatment with moss-produced factor H by overcoming the antibody response in a mouse model of C3G. Front Immunol (2025).
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