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Orofacial clefting is one of the commonest human birth defects occurring in about one in 700 babies. Recent evidence that appropriate nutrition and environmental conditions can reduce the incidence of orofacial clefting provides one avenue for future research. Equally important is the genetic side with the ongoing search for candidate genes. The network will provide a forum to identify the most fruitful research strategies in these areas and the interaction between the two.
Orofacial clefting (OFC) is one of the most common birth defects in Europe and accounts for approximately 65% of facial abnormalities in newborn infants. The cause of the two main types of OFC, namely cleft lip and palate (CL(P)) and isolated cleft palate (CP), is complex. The two main factors contributing to multifactorial disorders, genes and lifestyle / environmental factors have been examined independently, but it is only in recent years that studies have set out to address the interaction between the two i.e. the role of genes in conferring liability to environmental factors - gene / environment interaction.
Evidence is emerging which suggests that nutritional factors may play a role in the cause of facial clefts. Folic acid supplements taken by mothers around the time of conception have been proven to be effective in the prevention of neural tube defects such as spina bifida, but its effectiveness for oral cleft prevention remains uncertain. It is possible that deficiency or abnormal metabolism of folate may be responsible for several groups of malformations by interference with normal embryonic development, and its role may vary according to the genetic make up of the mother or child. Additional studies are required to explore how genetic factors may modify the role of environmental factors such as folic acid.
The European community with cultural and nutritional differences between countries, yet similarities within national populations provides an excellent opportunity for the investigation of gene-environment interaction. If the results of such studies reveal that there is a consistent association between populations with differing genetic backgrounds, lifestyles and environmental factors this is important in judging whether an association is causal.
The European Science Foundation is supporting a three year network on the development of methods for investigation of gene-environment interaction in early human development, with orofacial clefting as the main focus of the groups research interest, but the results of which may have implications for other congenital abnormalities.
Activities
The network will fund:
workshops
- 1st Workshop, 20-21 February 1999, Strasbourg (France).
Go to website
- 2nd Workshop, 19-20 May 2000, Dundee (UK) (Report)
- website
