University Medical Centre Utrecht
ContactProject Staff
Prof. Edwin Cuppen
Leader Next Generation Sequencing lab 
Contact
Dr. Kirsten Renkema
PostDoc Next Generation sequencing Contact
Institute Presentation
The University Medical Centre Utrecht (UMCU) forms one of the strongest translationally-oriented multidisciplinary research centers in Europe. The UMCU has established excellent infrastructures for clinical studies, generation, housing and studies with (transgenic) animals, DNA sequencing and micro-array analysis, and proteomics. The department of Medical Genetics of the UMCU has a long track record in investigating the genetics and cell-biological basis of genetic disorders, including hereditary renal disorders. The research lab of the department currently operates 4 SOLiD 5500XL, 1 x SOLiD Wildfire,1 IonTorrent PGM and 1 Illumina MiSeq next-generation sequencers, and the bioinformatics group in the department runs a 300 CPU compute cluster with >100 Tb of data storage for data analysis. This fully equipped NGS platform is now used for genome resequencing and mutation detection/discovery, but also for small RNA sequencing, ChIP-Seq, and structural variation detection, and is perfectly suited for the research aims of EURenOmics.
Nine Knoers is Professor of Medical Genetics and Chair of Department of Medical Genetics. Over the past years, her team has substantially contributed to the elucidation of genes involved in hereditary kidney diseases, among which the V2R and AQP2 genes for nephrogenic diabetes insipidus, and genes involved in renal hypomagnesemia and syndromic nephronophthisis. Election as Chair of the Dutch Society of Clinical Genetics reflects the recognition of her outstanding contribution to the clinical care and research of patients with genetic renal disorders. Professor Knoers has an extensive national and international network, is a member of several European Consortia on genetic renal disorders (EUNEFRON, EURenOmics) and coordinates the Dutch Scientific Consortium on renal ciliopathies “Kouncil”. Her work is focused on the identification of new genes responsible for inherited renal disorders and on their pathophysiology, using cell and animal models.
Edwin Cuppen is Professor of Human Genetics in the Department of Medical Genetics and senior staff scientist at the Hubrecht Institute for Developmental Biology and Stem Cell Research in Utrecht, providing a unique internationally competitive environment and allowing for clinical validation of developed technologies, as well as in-depth analysis and experimental validation of biological principles. His research group has a long track record in high-throughput DNA analysis and was the first in Europe to implement AB’s SOLiD NGS technology and the IonTorrent Personal Genome Machine. His group has a strong background in application development to push the experimental potential of NGS.
Kirsten Renkema is a postdoc in the Department of Medical Genetics. She has investigated the molecular background of renal hypercalciuria during her PhD and is currently aiming her research at the nephrogenetics field. She recruited a large Dutch cohort of 1000 case-parent trios and numerous families with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and she investigates the molecular background of these disorders using next generation sequencing approaches. Her expertise in molecular genetics and extensive experience in fundamental research give her excellent skills to bring the investigations on kidney disease to the next level.
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