SFB 1453:  Nephrogenetics (NephGen)

• Subject Area: Medicine ; Biology
• Term: since 2021
• Website: Homepage
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

Kidney disease represents a global public health challenge. Chronic kidney disease alone affects 10-15% of adults, and kidney cancers add to this burden. 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 complicated by an incomplete understanding of the underlying mechanisms. Pharmacological compounds that operate on proteins or pathways connected to a given disease by human genetic evidence are twice as likely to successfully move through the clinical development pipeline, compared to those with no genetic support. Therefore, NephGen will use evidence from both monogenic and complex genetic kidney diseases to identify and characterize molecules and pathways that represent targets to improve the prevention and treatment of kidney disease. To this end, NephGen researchers have assembled large patient- and population-studies, and established a variety of model organisms and state-of-the-art methods for genome editing, (single-cell) sequencing, structural biology, diverse omic technologies, whole animal live imaging as well as integrative analyses and modeling of high-dimensional data. To facilitate clinical translation, NephGen will use both modern statistical approaches and modify the implicated molecules and pathways in disease-specific model organisms through genetic and pharmacological approaches.

• DFG Programme: Collaborative Research Centres

Current projects

• INF - Information Infrastructure Project for Research Data Management (Project Head Binder, Harald )
• P01 - Trafficking defects in reno-skeletal ciliopathies (Project Heads Lausch, Ekkehart Ullrich ;  Schmidts, Miriam )
• P02 - Characterization of new genes encoding putative transition zone proteins in cystic kidney disease and ciliopathies (Project Heads Bergmann, Carsten ;  Ott, Elisabeth )
• P03 - The role of nephronophthisis proteins (NPHPs) in organelle, cell and tissue organization (Project Heads Walz, Gerd ;  Yakulov, Toma Antonov )
• P04 - Investigating alternative splicing and isoform functions in ciliopathy- and renal disease-genes (Project Head Walentek, Peter )
• P05 - Analysis of the polycystin-1 signaling module to identify disease modifiers and therapeutic targets for polycystic kidney disease (Project Head Köttgen, Michael )
• P06 - The role of endosomal regulators for slit diaphragm formation and maintenance (Project Head Hermle, Tobias )
• P07 - Control of kidney morphogenesis by CAKUT- and kidney function-associated transcription factors (Project Head Arnold, Sebastian J. )
• P08 - Primary aldosteronism – genetics, pathophysiology and role in hypertensive kidney disease (Project Head Scholl, Ute )
• P09 - High-resolution proteomic analysis of native sodium-phosphate transporters SLC34A1 and SLC34A3 and their role in kidney disease (Project Head Fakler, Bernd )
• P10 - Structure, function and regulation of disease-relevant renal transport proteins (Project Head Hunte, Carola )
• P12 - Matrisome composition and processing in renal tumors of VHL disease (Project Heads Schell, Ph.D., Christoph B. ;  Schilling, Oliver )
• P13 - Rebalancing epigenetic and mTOR signaling in VHL-dependent clear cell renal cell carcinoma (Project Heads Neumann-Haefelin, Elke ;  Timmers, Marc )
• P14 - Interplay between genetic and micro environmental factors in the developmental of renal carcinoma (Project Head Frew, Ian )
• P15 - Target identification across the allele frequency spectrum: from complex to monogenic kidney disease (Project Head Wuttke, Matthias )
• P16 - Discovery and integrated functional genomics of cell-type and compartment-specific kidney disease genes (Project Head Köttgen, Anna )
• S01 - Planning, integrative analyses and modeling of high-dimensional data (Project Heads Binder, Harald ;  Börries, Melanie ;  Köttgen, Anna )
• Z - Central tasks of the Collaborative Research Center (Project Head Köttgen, Anna )

• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Participating Institution: Charité - Universitätsmedizin Berlin; Max-Planck-Institut für Immunbiologie und Epigenetik
• Spokesperson: Professorin Dr. Anna Köttgen