Niels Tommerup

Primary fields of research

Mapping of 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 mecahnisms. Characterization of germline chromothripsis. Functional studies of non-coding RNA genes.

Current research

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 latter study also provides support for an obesity locus in the CELF4 regulatory domain on chromosome 18.  

Ongoing Projects

• Coordination of International Breakpoint Mapping Consortium (2014-), involving >100 diagnostic cytogenetic laboratories from >50 countries/6 continents.
• In the so far largest study of the effect of chromosomal breakpoints which also include the first control cohort we define >300 high-risk TADs for long-range-position effects (18% of the genome). This window into the developmental regulome establish links to multiple disorders, incl. intellectual disability, autism, epilepsy, narcolepsy, speech defects and congenital brain malformations.
• Studies of germline chromothripsis associated with complex translocations/inversions, and in cellular model systems.
• Linking anatomical variation to genetic variation.
• Development of methods for visualization of nuclear genome organization.

CV

Personal data

Name: Niels Tommerup

Nationality: Danish

Current position
Professor of Medical Genetics, 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 and dissection of chromosomal topological domains and genomic and nuclear organization by chromosomal translocations/inversions. Characterization of germline chromothripsis. Integration of gene expression/function/biological pathways during normal and abnormal fetal development. Functional studies of non-coding RNA genes.

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-:Full Professor of Medical Genetics, Dept. of Medical Biochemistry and Genetics (from 2007: Department of Cellular and Molecular Medicine), UCPH. 2001-13:Director of Wilhelm Johannsen Centre for Functional Genome Research.

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
344 published/accepted peer reviewed publications, including papers in Nature, Cell, Nature Genetics, Nature Biotechnology, Nature Protocols, New England Journal Medicine, Lancet. >25,000 citations -- h-index: 74 -- i10-index: 243 (https://scholar.google.dk/citations?user=2o7SnG8AAAAJ&hl=da).