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Molecular and cellular mechanisms of congenital craniofacial disorders

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  • Full or part time
    Dr N Itasaki
  • Application Deadline
    Applications accepted all year round
  • Self-Funded PhD Students Only
    Self-Funded PhD Students Only

Project Description

Congenital abnormalities are a major part of birth defects. Among them, Cerebro-Costo-Mandibular syndrome (CCMS) is a rare congenital disorder comprising branchial arch-derived and thoracic skeletal malformations with striking rib-gaps. In the last two years our collaborators have conducted the largest clinical study of CCMS worldwide to provide accurate information about the diagnosis and prognosis for patients [1]. The genetic cause of CCMS was recently identified by our collaborators [2], involving mutations in the gene, SNRPB, encoding Small Nuclear Ribonucleoprotein-associated Protein B and B’ isoforms (SmB/B’). SmB/B’ are components of the major spliceosome, a dynamic macromolecule responsible for removing introns from almost every gene. Interestingly, an increasing number of craniofacial disorders are known to be caused by alterations in spliceosomal genes [3]. However, it is completely unknown how mutations in such fundamental genes can cause these specific phenotypes during embryogenesis, often affecting craniofacial development. This knowledge gap has prevented us from explaining the phenotypic and heredity variation, including non-penetrance that occurs in CCMS.
We will investigate the mechanism whereby such gene mutations result in specific developmental phenotypes. The approach is at molecular (DNA, mRNA and protein levels) and cellular levels using in vitro culture system. Chick embryos will also be used as an approachable model system.

Funding Notes

This is a self-funded PhD project.
Entry requirements: First-class honours degree (or equivalent) in a relevant subject.
Before applying on line, you are suggested to contact Dr Nobue Itasaki (email address is available on the University Website).
For information on international equivalent qualifications, please see the International Office website:


1. Tooley, M., et al., Cerebro-Costo-Mandibular syndrome: Clinical, Radiological and Genetic Findings. American Journal of Medical Genetics. 2016. 170(5): 1115-26.
2. Lynch, D.C., et al., Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Nat Commun, 2014. 5: 4483.
3. Lehalle, D., et al., A review of craniofacial disorders caused by spliceosomal defects. Clin Genet, 2015. 88(5): 405-15.

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