Researchers Identify Gene That Plays a Major Role in Cleft Lip and Cleft Palate
AAO Foundation funding contributes to ground-breaking research
ST. LOUIS – An international team of researchers on four continents, led by the University of Iowa (UI), has identified a gene that plays a major role in cleft lip and cleft palate, a common birth defect. The team published a study in the December 15, 2009 issue of the journal Human Molecular Genetics. The American Association of Orthodontists Foundation (AAOF), the charitable arm of the American Association of Orthodontists (AAO), was among the organizations to provide funding for this project.
“The AAOF is pleased to have helped sponsor this ground-breaking research. Its findings have the potential to lead to the prevention or improved treatment of cleft lip and cleft palate, which affects thousands of infants annually all over the world,” said Stephen E. Hershey, DDS, MA, MS, president of the AAOF. “We are particularly pleased that two AAO members have played pivotal roles in this research.”
Lina Morena, DDS, PhD, an AAO member who serves as an assistant professor in the Department of Orthodontics at the UI College of Dentistry was the study’s co-leader. Andrew Lidral, DDS, PhD, an AAO member and UI professor of orthodontics, was the senior author of the study.
“This research endeavor would never have gotten off the ground if it had not been for the AAOF support,” Dr. Lidral said.
Dr. Morena received a three-year award from the AAOF. “The AAOF Board of Directors felt Dr. Morena’s proposal was strong and warranted our support. This is tangible evidence that our mission to support education and research is contributing to the greater good of humanity,” Dr. Hershey said.
UI researchers had previously identified a segment of the human genome, called chromosome 9, as the location of an important genetic cause of cleft lip and cleft palate. Through further research and analysis of DNA from affected families, the researchers have now identified a single gene on chromosome 9 as a root cause of these common birth defects. The gene, known as FOXE1, appears to contribute to cleft lip with or without cleft palate, and to isolated cleft palate. Previously, these two forms of clefting were thought to arise from different genetic abnormalities.
Although researchers do not yet know how FOXE1 abnormalities cause clefting, the gene might be part of a new pathway involved in lip and palate formation. In addition, FOXE1 is known to have role in formation of the thyroid gland, which might mean there is a connection between thyroid function and cleft lip and cleft palate. Understanding what the mutation does to the gene and which biological pathways are affected could potentially lead to new therapeutic approaches.
The international research team was led by University of Iowa researchers and included scientists from University of Pittsburgh; University of Antioquia in Medellin, Colombia; University of Washington in Seattle; Children’s Hospital Oakland Research Institute in Oakland, Calif.; University of Southern Denmark; University of Bergen in Norway; Royal Children's Hospital in Melbourne, Australia; the National Institutes of Health; and Johns Hopkins University. In addition to funding from the AAOF, the study also was funded in part by grants from the March of Dimes, the National Institutes of Health and the Cleft Palate Foundation.
About the American Association of Orthodontists Foundation
The AAOF is a 501 (c) (3) not-for-profit corporation in the state of Missouri.
The mission of the AAO Foundation is “to advance the orthodontic specialty by supporting education and research” by ensuring the future viability of the specialty through investing in the next generation of educators and researchers. Since 1994, the AAOF has provided a total of $6.6 million in funding, primarily in support of Junior Faculty, including 125 Fellowship Awards and 148 Research Awards. Support for Junior Faculty has resulted in more than 100 articles and abstracts, most of which have been published in journals within orthodontics, but many in journals outside the specialty and the profession; scores of lectures at dental, orthodontic and at other scientific meetings; and professional advancement, i.e., 22 department chairs and/or program directors funded while Junior Faculty; numerous tenured, associate and full professor positions; and nine NIH funding recipients.
To learn more about the AAOF and its Continued Commitment to the Specialty® campaign, visit www.aaofoundation.net.
About the American Association of Orthodontists
The AAO has 16,000 members in the United States, Canada and abroad. Founded in 1900, the AAO supports research and education leading to quality patient care and promotes increased public awareness of the need for and benefits of orthodontic treatment. The American Dental Association recognizes the AAO as the professional organization for orthodontic specialists.
For information about orthodontics and the AAO, visit www.braces.org and www.AAOinfo.org.