Major Discovery in Cleft Lip and Palate Research

News Brief by Helen Mizrach

     An international team of scientists led by Newcastle University and the University of Bonn have identified an important gene associated with cleft lip and palate. They have found that variants near a gene called GREM1(Gremlin 1) significantly increase the risk for this common birth defect. A cleft is a gap in the upper lip, the roof of the mouth, or sometimes both. Every year approximately 250,000 babies worldwide are born with a clef lip or palate, making it a major birth defect. This condition requires intensive, multidisciplinary care by specialists, as affected children are at an increased risk for dental issues, speech problems, ear infections, and hearing loss.

            The international research team carried out analyses using genetic and clinical data from three large patient cohorts to identify GREM1, the region on chromosome 15 strongly associated with cleft lip and palate. Through studies on mice, they determined that it is increased activity of GREM1 that causes the defect. These findings broaden scientific understanding of the processes that regulate the face’s shape in the womb.

      However, scientists still only have a fragmented picture of how genetic factors combine with environmental factors to cause birth defects. To establish effective prevention strategies, scientists need to identify the specific genes and environmental influences that interact with GREM1. As the use of personalized medicine increases, understanding how genetic changes alter fetal development will become increasingly relevant. Scientists are far from preventing the complex interactions that lead to common birth defects, yet the discovery involving GREM1 is a critical step in the right direction.


Newcastle University. (2016, March 24). Breakthrough made in cleft lip and palate research. ScienceDaily. Retrieved March 30, 2016 from