Edwin Cuppen

Brief CV Edwin Cuppen is scientific director of the Hartwig Medical Foundation, a not-for-profit organisation that aims to improve cancer care by systematic whole genome sequencing analysis of tumors. Edwin is also professor of Human Genetics at the Center for Molecular Medicine of the University Medical Center in Utrecht and invited member of the virtual national cancer research organisation Oncode Institute. After his undergraduate and PhD training at Wageningen University and Radboud University Nijmegen as a molecular geneticist, he held research and group leader positions at the Netherlands Cancer Institute and the Hubrecht Institute. His current research focuses on understanding the causes and consequences of de novo genetic variation, specifically in relation to cancer, by using systematic genomics and data integration approaches. Professional profile 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 (23 research groups, ~250 scientists). In 2017, he stepped down from this position and became director of the Hartwig Medical Foundation in Amsterdam, while remaining associated with the UMC Utrecht for his fundamental research activities. In September 2017, he was invited to be one of the inaugural members of the national cancer research organisation Oncode Institute. His area of expertise is in genomics and genetics. 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 (organoids). His group has specialized in studying 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. Edwin is one of the initiators of the nationally operating Center for Personalized Cancer Treatment (www.cpct.nl) for which he coordinated the centralized genome analysis and bioinformatic data integration efforts. This national collaboration aims for the stratification of cancer patients towards targeted treatments based on whole genome sequencing analysis of the tumor and to bring these developments to cancer patients in The Netherlands in a timely and responsible manner. Edwin is scientific founder and director of the Hartwig Medical Foundation (2015), an independent not-for-profit organisation, which operates a large scale cancer whole genome sequencing facility and in which various national clinical and research parties collaborate for improving personalized cancer patient care. Edwin is also an inventor on various patents and cofounder of the biotech startup company InteRNA Technologies that focuses on miRNA-based diagnostics and therapeutics.