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This highly collaborative and multidisciplinary publication, which features the work of seven (!) NephGen PIs (Miriam Schmidts, Sebastian Arnold, Anna Köttgen, Christoph Schell, Carsten Bergmann, Matthias Wuttke, Pascal Schlosser), their teams and an international group of collaborators, was published in Kidney International as “Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)“.
Summary: Congenital anomalies of the kidney and urinary tract are the predominant cause of impaired kidney function in infants, children, and adolescents. The symptoms are diverse, ranging from relatively mild manifestations such as vesicoureteral reflux (backward flow of urine to the kidneys) to severe forms such as renal agenesis (absent kidneys). So far, in only w10% of the affected individuals, disease-causing variants in known diseaseassociated genes can be identified. Within this study, in 3 families with children affected by congenital anomalies of the kidney and urinary tract, rare variants in the gene FOXD2 (forkhead box D2) could be identified. Further analyses, for example, of mice and renal cells, suggested that FOXD2 could play a role in the renal and urogenital development and seems to be important for maintenance of the filtering function of the kidneys. The focus of this study was therefore on the characterization of FOXD2 as a gene associated with the development of congenital anomalies of the kidney
Check out the open access publication here: https://shorturl.at/npHT3
