Researchers in Children’s University Hospital and RCSI develop new understanding of craniosynostosisResearchers in Children’s University Hospital and RCSI develop new understanding of craniosynostosis

13 September 2017

Craniosynostosis is a developmental condition where children present premature fusion of the skull sutures. This condition affects one out of 2500 live births and can cause damage by limiting brain growth. Scientists based in Ireland are investigating the mechanisms that speed up bone formation in children diagnosed with craniosynostosis. This follows the identification of local microenvironmental changes as a key player in the abnormal activation of a series of genes involved in the accelerated bone formation in the prematurely fused sutures.

Clinicians at the National Paediatric Craniofacial Centre at Temple Street Children’s University Hospital, together with scientists at RCSI (Royal College of Surgeons in Ireland) and the Science Foundation Ireland funded AMBER (Advanced Materials and BioEngineering Research) centre, compared the behaviour of cells from prematurely fused sutures and cells from unfused sutures in order to understand how changes in the local physical environment of the skull directs the premature suture fusion.

Their study, published in Scientific Reports –a leading open access journal from the publishers of Nature – identified that cells from fused sutures have a greater sensitivity to changes in their local environment while also discerned the genetic mechanisms that control that behaviour. In particular, cells from fused sutures prematurely commit towards a bone forming cell type. These insights in the mechanisms by which changes in the physical environment promote the premature fusion of the skull sutures may provide the opportunity to develop new therapeutic strategies for bone repair.

Mr. Dylan Murray, Lead clinician at the National Paediatric Craniofacial Centre at Temple Street Children’s University Hospital commented, ‘This study was possible with the consent of the parents of the children we operate on in Temple Street who have the condition craniosynostosis. Whilst it will never be the case that a fused suture can be treated with medications to reopen them, there are many applications of this scientific breakthrough. An example of this is the possibility of impregnating bone scaffolds with these genes. This will help to stimulate new bone formation. This can be used instead of bone grafts.

Professor Fergal O’Brien, Head of the Tissue Engineering Research Group in RCSI, Deputy Director of AMBER and lead PI on the project noted ‘This is a great example of interdisciplinary research between clinicians and scientists. We are particularly grateful to the patients in Temple St and their families who supported this project’

Commenting on the significance of the research, Dr. Arlyng Gonzalez Vazquez, whom together with Dr. Sara Barreto are the joint-first authors on the study, said: ‘Our findings not only shed new light to understand the mechanisms that control the premature fusion of the skull suture in children with craniosynostosis but also provide new targets that can be incorporated into novel therapeutic target-specific biomaterials to enhance bone formation in patients suffering from severe fractures and bone degeneration’.

This work was supported by the Temple Street, Children’s Fund for Health, the Health Research Board, and the Irish Research Council.

RCSI is ranked in the top 250 institutions worldwide in the Times Higher Education World University Rankings (2017-2018). It is an international not-for-profit health sciences institution, with its headquarters in Dublin, focused on education and research to drive improvements in human health worldwide.