No. of Cases Seen in a Year

Treatment Funded by State for National Residents

  • Surgery costs: Don't know
  • Speech and Language Therapy costs: Don't know
  • Orthodontic costs: Don't know

Record collection protocol


Are records routinely collected at specific ages? No

Does this conform to WHO recommendations for different cleft types? No

Intercentre Collaboration Interested


Research

Want to particpate in research? yes

Participation in inter-centre studies?

Current Research

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

CLINICAL Research activities you would be happy to become involved in:

Randomised clinical trials?

Inter-centre comparison of outcome?

Prospective cohort studies?

DNA collection?

LABORATORY based research you would be happy to be involved in:

Laboratory genetics/genomics research

Animal models research

Clinical research activities interested in being involved in:

DNA collection: Yes




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

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 laboratory based research activities

Laboratory based research activities interested in being involved in:
Laboratory genetics/genomics research: Yes
Animal models research: Yes