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 |
| Country: | Denmark |
| Telephone: | +45 35327826 |
| Email: | ntommerup@sund.ku.dk |
| Web address: | Visit website |
Map of location
View Larger MapOther 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 |