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Career Trajectory
Bio
I received my PhD in the field of renal physiology in 2009. I investigated the physiological process of renal calcium transport in mouse and human. I successfully defended my thesis, entitled: Renal hypercalciuria: a physiological TRiP along the calciotropics. During my PhD, I received the Young Investigator Award from the Dutch Society of Physiology. Right after my PhD, I began a postdoc research project in the group of Prof. Dr. Nine Knoers at the Radboudumc Nijmegen and moved with Prof. Knoers to the Dept. of Genetics of the UMC Utrecht in 2011.
As an assistant professor, I aim my research on revealing the molecular mechanisms underlying inherited kidney diseases, with a specific focus on congenital kidney malformations. In a warm collaboration with the AGORA data and biobank I recruited a patient cohort of >1000 case-parent trios displaying congenital kidney and urinary tract malformations (CAKUT). I was awarded a personal Kolff grant of €150,000 from the Dutch Kidney Foundation (application round 2010) and Kolff Senior grant of €400,000 (application round 2015). I participated in the Elisabeth Steyn Parvé talent program of the UMC Utrecht in 2012 and the EUREKA Program for Translational Medicine in 2013. I was awarded the Impulsion Grant of the Work Group Inherited Kidney Diseases of the ERA-EDTA in 2015.
During my scientific career, I collaborate(d) in the (inter)national kidney field and beyond. By setting up multidisciplinary collaborations, I am able to study the molecular background of kidney diseases and directly improve diagnostics for kidney disease patients by translating study findings to DNA testing. I initiated a multidisciplinary effort, including nephrologists, pathologists, clinical geneticists, and cell biologists, with whom we have successfully identified and extensively characterized the ITGA3 gene defect causal for nephrotic syndrome and interstitial lung disease. Human ITGA3 gene screening was directly implemented in routine DNA diagnostics, showing an example of a successful collaboration that led to improvements in diagnostics and genetic counseling. This study received attention in the media: (http://www.nu.nl/gezondheid/2948820/onderzoekers-ontcijferen-ernstige-nierziekte.html and https://www.youtube.com/watch?v=kV-k9qsx7oM).
Over the years, I have performed the day-to-day supervision of Master’s degree students, Bachelor’s degree students, four PhD students, and one technician. Four Master students have moved on to their PhDs.
Currently, I am an assistant professor in the Department of Genetics, UMC Utrecht, The Netherlands. I carried out a targeted sequencing of the complete coding regions of 208 candidate genes in 453 patients with congenital renal malformations. This effort showed the genetic complexity of congenital kidney malformations. The manuscript describing the findings of this study was published in Kidney International.
I pursued my scientific expertise in the collaborative FP7 project EURenOmics that was granted by the European Union in 2012, the Kouncil consortium that was granted by the Dutch Kidney Foundation in 2013, and the ArtDECO consortium that was granted by the Dutch Kidney Foundation in 2020. In these multidisciplinary consortia we investigate the molecular background of inherited kidney diseases.
From the beginning of my scientific career, I have focused my research on the kidney. I investigated the physiological process of renal calcium transport and became fascinated by kidney function in health and disease. I aim to continuously participate in multidisciplinary research efforts, bringing scientists, clinicians, and laboratory specialists together to improve the health-related quality of life for patients with inherited kidney diseases. My strong background in kidney research and integration in the (inter)national kidney field give me excellent opportunities to reach my research goals.
Research Interests
Papers共 60 篇Author StatisticsCo-AuthorSimilar Experts
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PEDIATRIC NEPHROLOGYno. 7 (2023): 2258-2259
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Journal of the American Society of Nephrologyno. 10S (2021): 429-429
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGYno. 11 (2021): 2885-2899
bioRxiv (Cold Spring Harbor Laboratory)no. 10S (2021): 6-6
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BIRTH DEFECTS RESEARCHno. 18 (2020): 1495-1504
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