Edwin Cuppen (1970) obtained his masters in molecular sciences at the Agricultural University Wageningen in 1994 (cum laude) and his PhD degree in 1999 at the Radboud University in Nijmegen in the group of Prof. Be Wieringa. During his education, he spent half a year in het Jaenish lab at the Whitehead Institute in Boston. From 1999 to 2002 he performed postdoctoral research at the Netherlands Cancer Institute in Amsterdam and the Hubrecht Institute in Utrecht, The Netherlands, in the group of Prof. Ronald Plasterk. In 2002 he became staff scientist at the Hubrecht Institute and in 2007 he was appointed professor of Genome Biology at the Biology department of the Utrecht University. In 2009 he was appointed professor of Human Genetics and head of the research section of the Medical Genetics department of the University Medical Center Utrecht, while continuing his work at the Hubrecht Institute with a split appointment. In 2015, he left the Hubrecht Insitute to transfer his research group completely to the UMC Utrecht and to become the director of the Center for Molecular Medicine.
His area of expertise is in genomics and genetics and his scientific interests are in functional and personal genomics. In 2005, Edwin Cuppen was awarded a 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 showed the widespread effect of copy number variation on gene expression levels. In 2013, he was awarded a prestigious NWO Vici grant for dissecting the molecular mechanisms behind structural genomic variation and studying the functional consequences using integrated systematic -omics approaches.
In his current work he combines experimental methods, including next-generation sequencing technology and animal model studies, with bioinformatic approaches to understand the effects of genetic variation under normal and disease conditions, with a specific focus on cancer and congenital disease. His research group has a long track record in high-throughput DNA analysis and was among the first to pioneer next-generation sequencing technology. His group developed and improved various NGS-based techniques and is now routinely applying NGS-based techniques in a wide range of systems from human patients to zebrafish and rat models and adult stem cell culturing systems (normal and tumor derived organoids). His group has specialized in studing genomic structural variation and they are using NGS-based techniques like (small) RNA sequencing, ChIP-Seq, and 4C-seq to detect molecular consequences and dissect underlying biological mechanisms. Furthermore, within the Medical Center settings, he is involved in implementing NGS approaches for diagnostic purposes in clinical genetics and personalized cancer treatment (cofounder of Center for Personalized Cancer Treatment).
Edwin Cuppen is director of the recently established the Hartwig Medical Foundation, which operates an Illumina Xten setup for large scale whole genome sequencing and in which various national clinical and research parties collaborate for improving personalized cancer patient care based. Edwin Cuppen is also an inventor on various patents and cofounder of the biotech startup company InteRNA Technologies that focuses on miRNA-based diagnostics and therapeutics. He is advisor for several biotech startups in the area of genomics technology and bioinformatics.