Studies Seek to Elucidate Genetics of Cleft Lip-Palate
Mary L. Marazita, PhD., Director of the Cleft Palate-Craniofacial Center (University of Pittsburgh School of Dental Medicine) and Professor of oral and maxillofacial surgery and of human genetics, conducts research in the genetics of oral-facial clefts.
Her goals are to elucidate the complex familial patterns and to map the genes involved in the expression of the anomalies. Having recruited families in various countries, the first phase has been the examination of inheritance patterns. The second phase involves confirming any genetic pattern and mapping the genes involved in cleft lip and palate.
Genetic “Short Circuit” leads to Cleft Palate
22 December 1997
[Summary] ((US National Institute of Health news release, dated 22 December 1997, available at http://www.nih.gov/news/pr/dec97/nidr-22.htm [verified 22 March 2007]))
Scientists have identified not just a single gene, but a genetic circuit, that when broken, causes cleft palate in newborn mice. The surge that causes the circuit to break is an environmental assault in the form of steroid hormones. This is the first time that a cause-effect scenario for cleft palate has been worked out at the molecular level.
The findings may help define the genetic components of cleft palate in humans by providing a focus in human population studies, and also explain the link between clefting and risk factors such as stress and smoking.
This research emanates from the belief that cleft palate may result from a combination of genetic and environmental factors. The study was carried by personnel from the University of Southern California and the Children’s Hospital of Los Angeles, through support from the National Institute of Dental Research.
Source: (US) National Institute of Health news release (dated 22 December 1997), available at
http://www.nih.gov/news/pr/dec97/nidr-22.htm [verified 22 March 2007]