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.

Research Program

Publications

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). 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 GBergen M. Spontaneous Calcium Bursts Organize the Apical Actin Cytoskeleton of Multiciliated Cells. Int J Mol Sci (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). Elcin-Guinot S, Lagies S, Avi-Guy Y, Neugebauer D, Huber TBSchell C, Kammerer B, Römer W. Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA. Int J Mol Sci (2025). Müller M, Zodel K, Abhari BA, Cuomo F, Nizamuddin S, Metzger P, Boerries MTimmers HTMFrew IJ. KDM5C and KDM5D mutations have different consequences in clear cell renal cell carcinoma cells. Commun Biol (2025). Pal J, Riester M, Ganner A, …, Frew IJ, Kotsis F, Neumann-Haefelin E, Spang A, Diederichs S. Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation. Sci Adv (2025). Felixberger PT, Andrieux G, Maul-Pavicic A, …, Boerries M, Nitschke L, Voll RE, Warnatz K, Keller B. CD21low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation. Front Immunol (2025). More Publications