Finding a gene for cleft lip and palate
Every year, around 1,000 babies are born in the UK with clefts in their lip or palate. Clefts, or splits, where structures of the nose and mouth have failed to join correctly, are among the most common birth defects in the world and can be traumatic for both the child and their family.
In 1998 Action Medical Research awarded £97,016 to Professor Michael Dixon, University of Manchester, to search for the gene responsible for causing Van der Woude Syndrome, one form of cleft lip and palate. Van der Woude Syndrome (VDWS) is an inherited and rare form of cleft lip and palate. Those affected typically face years of surgery to correct the split between their nose and mouth and possible gaps in the roof of the mouth.
Professor Dixon led a British research team, which worked in collaboration with scientists in the US. They used the latest DNA techniques to identify the faulty gene linked to VDWS, which previous studies had narrowed down to one particular chromosome (the structures in a cell that contain our genetic makeup). The identification of this gene helps our understanding of how clefts occur, not only in VDWS, but also in other types of cleft lip and palate, and this could help in the search for future treatments.
Since the study was completed, a genetic test for VDWS has been developed by the team. Genetic testing could help families affected by VDWS prepare in advance for having a child with this syndrome. The long-term goal for Professor Dixon and his colleagues remains to find a treatment that can be given during pregnancy to prevent this distressing condition.