A global research network is needed if scientists are ever going to understand and prevent cleft palate, say experts at the first World Health Organization Collaborating Centre set up to develop such a structure. Professor Bill Shaw, of The University of Manchester, says the complexity of craniofacial anomalies, like cleft lip and palate, means no one country, let alone institution, has the necessary expertise and resources to find all the answers to these distressing conditions. His comments come as the University's School of Dentistry was designated a WHO Collaborating Centre for Research on the Treatment of Craniofacial Congenital Anomalies - the first such centre in the world - in recognition of the pioneering research carried out there into craniofacial disorders. "Being designated a WHO Collaborative Centre is an honour and a challenge;
Although high levels of cholesterol are bad for us (putting us at increased risk of a heart attack ), low levels of cholesterol can also be bad -- as a fetus, low levels of cholesterol are associated with life-long disabilities, such as learning difficulties, limb abnormalities, and cleft palate. Low levels of cholesterol during development are caused by genetic defects in the proteins that control the production of cholesterol. Therefore, these individuals not only have low levels of cholesterol but also high levels of cholesterol precursors; which of these cause the developmental defects has been a matter of debate. Now, researchers from the University of Texas Southwestern Medical Center have shown that in mice it is the high levels of cholesterol precursors that are to blame. In their study, which appears in the September issue of the Journal of Clinical Investigation, Joseph Goldstein and colleagues found that fetal mice with normal levels of cholesterol but very high levels of cholesterol precursors had severe developmental defects, including cleft palate.
Researchers supported by the National Institutes of Health report in the current issue of the journal Science that a much-studied gene called SUMO1, when under expressed, can cause cleft lip and palate, one of the world's most common birth defects. With several genes already implicated in causing cleft lip and palate, the authors note their addition to the list comes with a unique biological twist. The SUMO1 gene encodes a small protein that is attached to the protein products of at least three previously discovered "clefting" genes during facial development, in essence linking them into or near a shared regulatory pathway and now hotspot for clefting. "The big challenge for research on cleft lip and palate is to move from studying individual genes to defining individual protein networks, " said Dr.
Cranio-maxillofacial surgery is a medical specialty focusing on facial and skull reconstruction. This surgery can help patients with such disorders as cleft palate, malformations of the upper or lower jaw, and problems with the facial skeleton due to injury. Intensive pre-operative planning is needed not only to ensure that the medical purposes of the surgery are achieved, but also to give patients a sense of what their faces will look like after the surgery is performed. In their article "Mathematics in Facial Surgery, " Peter Deuflhard, Martin Weiser, and Stefan Zachow (of the Konrad Zuse Zentrum (ZIB), Berlin) describe the mathematical techniques they have used to assist cranio-maxillofacial surgeons to predict the outcomes of surgery. These techniques have proven to be quite successful in producing predictions that end up matching well the post-operative outcomes.
Pioneering new research into cleft lip and palate could open the door to babies with certain craniofacial disorders being successfully treated in the womb. University of Manchester researchers have uncovered the causes behind two genetic conditions that lead to facial anomalies including clefts, where the lip and often the roof of the mouth, or palate, fail to form properly. Working with colleagues at the University of Iowa, Manchester husband and wife team Mike and Jill Dixon together with researcher Rebecca Richardson, have identified the role of a gene called IRF6. "We had previously shown that a mutation in the IRF6 gene causes Van der Woude syndrome - a rare inherited form of cleft lip and palate, " said Professor Mike Dixon, a dentist based in the Faculty of Life Sciences. "It has also been found that defects in this gene are responsible for a significant number of other cleft lip and palate disorders that are not related to any particular syndrome.