Niels Tommerup is a Professor of Medical Genetics at the Department of Cellular and Molecular Medicine, University of Copenhagen, where he has served since 1996. He previously directed the Wilhelm Johannsen Centre for Functional Genome Research (2001-2013) and was Deputy Head of Department (2007-2019). His research group focuses on mapping balanced chromosomal rearrangements (BCR) to identify disease genes, regulatory domains (Topological Associating Domains), and novel genetic mechanisms, as well as characterizing germline chromothripsis and functional studies of non-coding RNA genes. Tommerup earned his DMSc. in genetics (1994) and medical degree (Cand.med., 1978) from the University of Copenhagen. His early career included positions as a junior doctor, research assistant, and senior doctor at the J.F. Kennedy Institute in Denmark (1978-89), and as a Consultant at the Department of Medical Genetics, Ullevål University Hospital in Oslo, Norway (1989-91). He has held visiting scientist positions at institutions in London, Australia, and Norway. His research spans multiple areas including cytogenetics, translocations and inversions, next generation sequencing, Topological Associating Domains, Long Range Position Effects, 3D-genome organization, and long noncoding RNAs. Tommerup coordinates the International Breakpoint Mapping Consortium (2014-present), involving over 100 diagnostic cytogenetic laboratories from more than 50 countries across six continents. His work has established that direct gene truncation may explain approximately 18% of BCR-associated developmental disorders, and that long-range position effects may be at least as frequent a cause as gene truncation. His recent publications reveal trends in understanding sex differential responses to viral infections (particularly focusing on the X-chromosome), linking anatomical variation to genetic variation, and developing methods for visualization of nuclear genome organization. His work bridges basic genomic research with clinical applications in developmental disorders, intellectual disability, autism, epilepsy, and other conditions. Det Classenske Fideicommis Boglegat (1987) Iris Preuss's Mindelegat (1994) First Harold Klinger Memmorial Award Lecture, Atlanta, USA (2006) Tommerup has supervised 27 PhD students and 10 postdocs. His editorial roles include service on the boards of Briefings in Functional Genomics, Clinical Genetics, Computational and Structural Biotechnology Journal, PeerJ, and Australasian Med J. He has organized numerous academic events including the International Summer School in Functional Genomics and the Wilhelm Johannsen Symposium. His international collaborations include the EU-concerted action Mendelian Cytogenetics Network and the International Breakpoint Mapping Consortium. Tommerup leads the Tommerup Group which coordinates the International Breakpoint Mapping Consortium and collaborates with Michael Talkowski's group at Harvard to accumulate the largest collection of sequence-resolved germline balanced chromosomal rearrangements. His laboratory combines DNA-DNA-interaction (Hi-C) studies with short and long read sequencing to improve the dissection of complex chromosomal rearrangements. The group has initiated systematic X-inactivation studies of sequence-resolved X;autosomal translocations and X-inversions, and conducts research on germline chromothripsis and host genetic factors underlying sex differential responses to viral infections.
