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.
Related news items
Merel Ritskes-Hoitinga has been appointed honorary Skou professor at Aarhus University17 October 2019
Merel Ritskes-Hoitinga has been appointed honorary Skou Professor at the Dept. of Clinical Medicine, at Aarhus University. The aim is to introduce new perspectives to teaching, strengthen relations with leading research units abroad and establish joint research projects and funding applications.read more
KWF Roadshow 11 November 201910 October 2019
In which way(s) can KWF provide optimal support to oncological research and care? How can we maximize impact on our investments? These questions are pivotal in Ambition 2030: the vision that KWF developed in close cooperation with stakeholders in the oncological field.read more
A personal touch of Frank Wagener10 October 2019
In order to promote interaction amongst colleagues within RIMLS, we have a ‘personal touch’ series setting employees in the spotlight. A light-hearted manner to learn about the colleagues you know and those you don’t. This week: Frank Wagener.read more
More than 3000 visitors at Open Day RIHS10 October 2019
On Sunday 6 October RIHS organized an Open Day in the Weekend of Science (“Weekend van de Wetenschap”) with special guest and television presenter Klaas van Kruistum. More than 3000 visitors became a health scientist for one day and discovered how special healthcare research is.read more
Dorine Swinkels collaborates with winners of the Nobel Prize in Physiology or Medicine9 October 2019
The Nobel Prize in Physiology or Medicine 2019 was awarded jointly to William G. Kaelin Jr, Sir Peter J. Ratcliffe and Gregg L. Semenza for their discoveries of how cells sense and adapt to oxygen availability.read more