Wilhelm Johannsen Centre for Functional Genome Research (WJC), Department of Cellular and Molecular Medicine, University of Copenhagen

Principle contact details

Contact name:Prof. Niels Tommerup
Address:Panum Institute, Blegdamsvej 3B, DK-2200 Copenhagen N
Telephone:+45 35327826
Web address:Visit website

Map of location

View Larger Map

Other team members

Surgeon:Linda Jakobsen

Support group

Support group address:NA

Annual case load

Cleft palate:NA
Pierre Robin:NA
Cleft lip (CL) Unilateral (UCL):NA
Bilateral (BCL):NA
Number of syndromic cases:NA

Primary surgical protocol

Timing of first repair and type of operation.

Complete UCLP:NA

State coverage of costs

Are the costs of the following treatments covered by the state (free to the patient)?

Comments on the service provision:NA

Clinical research

Clinical team members who are or would like to be involved in clinical research:

Member details:Linda Jakobsen - Surgery - Mapping of chromosomal breakpoints and other rare cases with new CLP- syndromes

Non-clinical and laboratory research

Non-clinical and laboratory team members who are or would like to be involved in clinical research:

Member details:Niels Tommerup - Genetics - Mapping of chromosomal breakpoints by next generation sequencing

Current research activity and data collection

Type(s) of software used:NA
Participation in inter-centre studies:Yes
Details of studies:We get chromosomal rearrangements (translocations, inversions) and other interesting families (e.g. consanguineous) associated with clefting from different centres in the world
Participation in other collaborations (projects):Yes
Details of projects:See above
Published research papers:Yes
Details of publications:Jakobsen LP, et al. Genetic studies in congenital anterior midline cervical cleft. Am J Med Genet A. 2012 Aug;158A(8):2021-6.
Jakobsen LP, et al. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. Am J Med Genet A. 2011 Mar;155A(3):652-5.
Jakobsen LP, et al. Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development. Exp Mol Med. 2009 Feb 28;41(2):77-85.
de Medeiros F, et al. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. Am J Med Genet A. 2008 Jun 15;146A(12):1605-8.
Jakobsen LP, et al. Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. Am J Med Genet A. 2007 Nov 15;143A(22):2716-21.15;143A(22):2716-21.
Jakobsen LP, et al. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007 Jun;44(6):381-6.
Jakobsen LP, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. 2006 Mar;43(2):155-9. Review.
Research grant funding received:Yes
Details of funding:Various Danish private and institutional grants

EU Biobank

Stored CLP DNA samples available for use in future studies:

Other CFA:Some chromosomal translocation and inversions associated with clefting stored at WJC

Potential clinical research activities

Clinical research activities interested in being involved in:

DNA collection:Yes

Potential laboratory based research activities

Laboratory based research activities interested in being involved in:

Laboratory genetics/genomics research:Yes
Animal models research:Yes

National cleft lip and palate / craniofacial scientific organisation

Organisation details:Yes, See Eurocran under Denmark

Useful websites or links

Useful websites or links:Wilhelm Johannsen Centre for Functional Genome Research http:www.wjc.ku.dk