Congenital scoliosis is a curvature of the spine resulting from defects in the process of forming the segments of the spine during prenatal development. This process is termed somitogenesis, since the segments of the spine first appear as somites before developing into vertebrae. In humans, defects in the somitogenesis process can result in a wide range of malformations of the vertebrae and ribs. Severe curvatures can cause neurological complications, pulmonary restriction, right-sided heart failure, and premature death.

     Congenital scoliosis results from a failure of the formation and/or the segmentation of the vertebrae before the end of the sixth week of development. Its frequency is one or two instances per 10,000 births. The vertebral anomalies result in a worsening deformity of the spine with growth, and a surgical spine fusion may be necessary to correct and stop the spine curvature. Thus far, only two genes — Delta-like3 and Mesp2 (both of which are linked to the segmentation clock oscillator) — have been associated with heritable syndromes such as spondylocostal dysostosis resulting in vertebral column abnormalities.

     Dr. Olivier Pourquié, the Stowers Institute Investigator who hosted the symposium, is well- recognized for his groundbreaking work in understanding the embryonic development of the spine. In addition to a long list of publications in leading peer-reviewed journals such as Science and Nature, Dr. Pourquié's discovery of the clock genes controlling somitogenesis was credited as one of 24 notable discoveries in developmental biology over the past 100 years by the editors of the Nature Publishing Group. He recently accepted an appointment with the Howard Hughes Medical Institute, and that organization will also support his ongoing research at the Stowers Institute.

     “Very little is known about the origin and the molecular nature of these vertebral defects in humans,” said Dr. Pourquié, “and we feel that the recent progresses of our understanding of the segmentation process in vertebrates makes the opportunity of establishing such a consortium particularly timely. Identification of the genes underlying these vertebral defects will find important applications particularly at the level of the genetic counseling of affected families.”

     More information about Dr. Pourquié’s research is available at http://www.stowers-institute.org/labs/PourquieLab.asp.

About the Stowers Institute
     Housed in a 600,000 square-foot state-of-the-art facility on a 10-acre campus in the heart of Kansas City, Missouri, the Stowers Institute for Medical Research conducts basic research on fundamental processes of cellular life. Through its commitment to collaborative research and the use of cutting-edge technology, the Institute seeks more effective means of preventing and curing disease. The Institute was founded by Jim and Virginia Stowers, two cancer survivors who have endowed it with $2 billion in support of basic research of the highest quality.