Identifying genetic and environmental risk factors for cleft using genome wide association study data

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The Cleft Collective is a set of studies of over 2500 families from across the UK who are affected by cleft lip/palate, whose long-term goals are to develop effective treatments to reduce the risk of cleft and to improve the physical, functional and emotional wellbeing of people born with a cleft. Since the study was established in 2012, we have built one of the world's largest banks of biological samples from children born with a cleft and their parents, in addition we have secured funding to generate genetic data on this cohort. We represent a cleft study of more than 1000 families collected and recruited in Bonn Germany which has DNA samples but does not currently have funding for genotyping. We are now hoping to take advantage of these impressive endeavours by seeking funding to generate genetic data on the Bonn study and then analyse both studies to identify genetic variants which cause cleft both among children born with a cleft and their mothers. We will also use this information to identify non-genetic (environmental) factors that cause clefts using an analytical technique called Mendelian randomization. An improved understanding of these causes will be vital in helping us to achieve our long-term goals, and it will also provide a valuable resource to other researchers from around the world. Findings from this work will be directly relevant to the large global community of people born with a cleft (approximately 1 in every 650 births), but also to the needs of people affected by craniofacial abnormalities and conditions related to cleft which may have many of the same risk factors.