Primære forskningsområder

The research focus of Tommerup Group is to use balanced chromosomal rearrangements (BCR) to identify and characterize novel disease and phenotype genes, regulatory domains (Topological Associating Domains (TADs)) of disease genes and novel genetic mechanisms, including X-inactivation and germline chromothripsis.  Sex differential responses to Sars-Cov-2-infections. Meiosis in Nature, where we by a new spreading technique can visualize meiotic chromosomes in wild animals, and establish their karyotype as a supplement to genome sequencing. 

Aktuel forskning

Recent highlights

• The first study of long-term risk of prenatally diagnosed de novo BCRs increases the risk from 7% to appr. 20% and lead to new guidelines (Am J Hum Genet 2018;102:1090-1103)
• The multiple breakpoints in germline chromothripsis may predispose to complex multigenic disorders (Hum Mutat 2019;40:1057-62)
• Haploinsufficiency of ARHGAP42 leads to age-dependent hypertension (Eur J Hum Genet 2019;27:1296-1303). The study also provides support for an obesity locus in the CELF4 regulatory domain on chromosome 18
• Combining DNA-DNA-interaction (Hi-C) studies with short and long read sequencing improve the dissection of germline complex chromosomal rearrangements (Nat Commun. 2022;13:6470)
• Maternal smoking delays fetal X-inactivation (Reprod Toxicol. 2025;137:109010)
• Multicenter study pin-point glycosylation processes in human genetic susceptibility to infections with SARS-CoV-2 Omicron variants (Nat Genet 2026;58:299–306) 

Ongoing projects

• Coordination of International Breakpoint Mapping Consortium (2014-), involving multiple diagnostic cytogenetic laboratories from >50 countries/6 continents.
• We have accumulated the largest number (~800) of sequence resolved germline BCRs, including the first large control BCR cohort, in collaboration with Michael Talkowksi, Harvard, and Chelsea Lowther (Mount Sinai, New York) Direct gene truncation may explain ~18% of BCR-associated early developmental disorders (DD). We provide the first ranked list of TADs as genomic units for BCR-mediated long-range-position effects (LRPE). We define novel LRPE-loci (e.g. BCL11A, BCL11B) and our data suggest that LRPE may be at least as frequent a cause of DD as gene truncation. This window into the developmental regulome establish links to multiple disorders, incl. intellectual disability, autism, epilepsy, narcolepsy, speech defects and congenital brain malformations (in revision for Nature Genet).
• We have initiated the first systematic X-inactivation study of sequence resolved X;autosomal translocations and X-inversions. 
• Studies of germline chromothripsis.  
• Search for host genetic factors that may be underly sex differential responses to Sars-Cov-2, with a particular focus on the X-chromosome.
• Development of Surface Edge spreading (SURFE) - a new spreading technique to visualize chromosomes and nuclei. 
• In 2025 we initiated “Meiosis in Nature” where SURFE of meiotic chromosomes can supplement the Earth Biogenome Project – the ongoing effort to sequence all living organism within this decade. Our first completed organism is the Greenland shark, the longest living vertebrate known.

CV

Personal data

Name: Niels Tommerup

Nationality: Danish

Current position
Senior Researcher, Professor, Department of Cellular and Molecular Medicine, Univ. of Copenhagen (UCPH). 2001-13: Director of Wilhelm Johannsen Centre for Functional Genome Research, a Centre-of-Excellence established in 2001 by The Danish National Research Foundation. 2007-2019: Deputy Head of Department of Cellular and Molecular Medicine (UCPH).

Education and Training
DMSc. in genetics, UCPH (1994). Cand.med. UCPH (1978).

Scientific Focus
Isolation of disease genes, genetic mechanisms and dissection of chromosomal topological domains and genomic and nuclear organization by chromosomal translocations/inversions. Characterization of germline chromothripsis. X-inactivation. Integration of gene

expression/function/biological pathways during normal and abnormal fetal development. Meiosis in Nature, using Surface Edge spreading (SURFE) of meiotic (pachytene) schromosomes to supplement and validate genome sequencing, exemplified by the Greenland shark. 

Professional Experience
1976-77: Scholarship. Dept. of Biochemistry. 1978-89: Junior doctor, research assistant and senior doctor, J.F. Kennedy Institute, Glostrup, Denmark. 1989-91: Consultant, Dept. of Medical Genetics, Ullevål University Hospital, Oslo, Norway. 1991-96:Seniorresearcher, Danish Center for Human Genome Research. Visiting scientist:1982: Biochemistry Dept., St. Mary's Hospital Medical School, London. 1986:Dept. of Pathology, Newcastle Mater Misericordia Hospital, Univer­sity of Newcastle, New South Wales, Australia. 1991-95: Dept. of Medical Genetics, Oslo University, Norway. 1996-: Professor of Medical Genetics, Dept. of Medical Biochemistry and Genetics (from 2007: Department of Cellular and Molecular Medicine), UCPH. 2001-13:Director of DNRF Centre-of-Excellence “Wilhelm Johannsen Centre for Functional Genome Research”. 2026-: Senior Researcher, Department of Cellular and Molecular Medicine, UCPH.

Academic Activities
Board Member of the Danish Society of Medical Genetics (1983-87; 1997-2001); Danish Centre for Human Genome Research (1994-96); European Society of Human Genetics (1995-99); European Cytogenetics Association (1997-99); HjerneForum (2008-2016); President: Danish Society of Reproduction and Fetal Development (1996-2001). Member (1996-2006) and Chair (2001-2006) of the International Standing Committee on Human Cytogenetic Nomenclature (ISCN).

Scientific Committee Member: European Society of Human Genetics (1992-93; 2000-2005). The Faculty of Health Sciences, UCPH (2003-2008). Dept. of Cellular and Molecular Medicine, UCPH (2008). Folkhälsan, Helsinki (2009-2015)

Editorial boards: Briefings in Functional Genomics; Clinical Genetics; Computational and Structural Biotechnology Journal; PeerJ; Australasian Med J.

Invited speaker in Armenia, Australia, Brazil, China, Czech Republic Denmark, Finland, France, FYR Macedonia, Germany, Greece, India, Italy, Japan, Norway, Poland, Portugal ,Spain, Sweden, The Netherlands, Turkey, UK, USA.

Opponent for PhD and medical theses in Denmark, Norway, Finland, Sweden, Holland. Supervisor of 27 ph.d. and 10 post.docs.

Organizer of International Summer School in Functional Genomics, Copenhagen, 2007, 2008. Wilhelm Johannsen Symposium 2002, 2011, Copenhagen. Co-organizer of UCPH Summer University Course in Human Genome Variation 2017.

Prices and Awards
Det Classenske Fideicommis Boglegat (1987). Iris Preuss's Mindelegat (1994). First Harold Klinger Memmorial Award Lecture, Atlanta, USA (2006).

International Collaboration
Coordinator of EU-concerted action Mendelian Cytogenetics Network (Biomed 2: 1997-2000). Coordinator of International Breakpoint Mapping Consortium (2014-), involving >100 diagnostic cytogenetic laboratories from >50 countries/6 continents.

Publications
364 published peer-reviewed publications, including papers in Nature, Cell, Nature Genetics, Nature Biotechnology, Nature Protocols, New England Journal Medicine, Lancet. >33,000 citations -- h-index: 87 -- i10-index: 278 (https://scholar.google.dk/citations?user=2o7SnG8AAAAJ&hl=da).