Group members Magdalena Harakalova, MD
Wigard Kloosterman, PhD
The research concentrates on functional and personal genomics, for which both experimental and bioinformatic approaches are used. The general aim is to understand the function of genomic elements and the effects of genetic variation on phenotypic diversity.
Cuppen's research group in the Hubrecht Institute has a long track record in high-throughput DNA sequencing and was the first in Europe to implement AB’s next-generation sequencing technology SOLiD. This platform is now used for genome resequencing and mutation detection/discovery, but also for small RNA sequencing, ChIP-Seq, and structural variation detection.
In 2005, Edwin Cuppen was awarded a prestigious European Young Investigators Award for his work on naturally occurring and induced genetic variation in the laboratory rat. He was one of the first to generate gene knockout models in the rat and recently showed the widespread effect of copy number variation on gene expression levels.
Prof. Cuppen is also CSO of the biotech startup company InteRNA Technologies, which aims to exploit the miRNA IP generated by the Hubrecht Institute, and is cofounder of InteRNA Genomics, which provides bioinformatic services for the analysis of next-generation sequencing data, including small RNA discovery and profiling.
Email:
ecuppen@niob.knaw.nl
Recent key papers Guryev, V., Saar, K., Adamovic, T., Verheul, M., van Heesch, S., Cook, S., Pravenec, M., Aitman, T., Jacob, H., Shull, JD., Hubner, N., and Cuppen, E. (2008). Distribution and functional impact of DNA copy number variation in the rat. Nature Genetics, 40:538-545.
Cuppen, E., Gort, E., Hazendonk, E., Mudde, J., v.d. Belt, J., Nijman, I.J., Guryev, V., and Plasterk, R.H.A. (2007). Efficient target-selected mutagenesis in Caenorhabditis elegans: towards a knockout for every gene. Genome Research, 17:649-658