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Cleft lip and palate is one of the most common defects affecting approximately 1 in 7000 live births. We have recently found evidence for the involvement of a new biochemical pathway in this defect called SUMO protein modification. This is exciting because SUMO modification can be altered by environmental factors some of which have been implicated in causing cleft lip or palate. We will investigate the genetic components of this pathway in patients with cleft lip or palate. We will learn why some people are born with this defect and we may be able to develop preventative strategies in the future.
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Beneficiaries
Situation
 Approx. 1,000 babies are born with clefts each year in the UK alone.  Cleft lip palate occurs during fetal development, affecting feeding and speech. Other complications include deafness (glue ear), abnormal tooth development and complex psychological issues.  Clinical benefit: improve understanding; environmental causes can be controlled; counselling for families improved; possibility of improved treatment.