25 July 2019

Jeroen de Baaij and Joost Hoenderop have received a Dutch Kidney Foundation project entitled "From rare diseases to the general population"

Chronic Kidney Disease (CKD) is a heterogenic group of disorders that has a variety of causes and underlying pathologies. As a result, most of the research in CKD is focused on common pathways rather than the causative factors. By studying rare monogenic disorders, it is possible to increase our understanding of the molecular mechanisms involved in common disorders such as CKD. 

Recently, we identified mutations in FAM111A in patients with renal failure, short stature, hypoparathyroidism and hypomagnesemia. This syndrome has been first described in the 1960s and has been named Kenny-Caffey syndrome type 2 (KCS2). Although KCS2 has long been considered as an endocrine disorder, our recent findings show that FAM111A mutations cause renal failure and magnesium wasting. In this Dutch Kidney Foundation project proposal, the role of FAM111A will be studied in KCS2 patients to understand how JAK/STAT signaling contributes to renal failure in the general population.

This research project brings together nephrologists, pediatric nephrologists, pathologists and fundamental researchers from Erasmus MC Rotterdam, Radboudumc Nijmegen and a large international network of collaborators. In this team, we aim to link strong research groups specialized in rare disease together with research teams that are focused on common chronic kidney disease. This approach creates a novel research environment that allows knowledge exchange and collaboration between complementary research lines on rare and common diseases.
 

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