Gene CHD7 linked to idiopathic scoliosis

Apr 27 2007

Researchers at Texas Scottish Rite Hospital for Children (TSRHC), one of the nation's leading pediatric centers for research and the treatment of orthopaedic conditions, have identified the first gene - CHD7 - associated with idiopathic scoliosis (I.S.), the most common spinal deformity in children.

With no known cause or cure, idiopathic scoliosis poses a significant health burden to the pediatric population. The condition affects approximately two to three percent of school age children in the U.S. and costs an estimated several billion dollars in surgical treatment each year.

The medical breakthrough is a result of a 10-year study conducted at the Sarah M. and Charles E. Seay/Martha and Pat Beard Center for Excellence in Spine Research at Texas Scottish Rite Hospital for Children, led by Carol Wise, Ph.D. With the goal of identifying genes causing idiopathic scoliosis, the research team conducted genome-wide scans and follow-up studies of 53 large families, totaling 130 individuals with a confirmed I.S. diagnosis. As a result, the team identified the first gene associated with I.S., allowing the medical community to form hypotheses to explain what causes the condition, and providing tools for future studies.

"This is the most definitive link between genetics and scoliosis that has been reported so far," said Dr. Wise, director of molecular genetics at Texas Scottish Rite Hospital for Children. "It has been known for many decades that scoliosis tends to be inherited within families, but now we have found a gene which is clearly related to the development of scoliosis."

Most often seen in otherwise healthy children, I.S. is an S-shaped curvature of the spine as viewed from the front that develops as the child grows. Onset typically occurs during the period of rapid growth at adolescence, and children who are still growing, particularly girls, are at the greatest risk for developing severe disease. A long-known condition, I.S. was described by the ancient Greeks and affects all populations worldwide.

"This discovery lays the groundwork for future research that will hopefully identify the specific abnormalities which cause the spine curvature," said Dr. Tony Herring, chief of staff at Texas Scottish Rite Hospital for Children. "When we understand these mechanisms, we may be able to develop new preventative measures and better treatment methods."

With expert researchers, biomedical engineers, physicians, staff and patients all under the same roof, Texas Scottish Rite Hospital for Children has a record of interdepartmental cooperation that generates an exceptional number of patents, discoveries and improved treatments for patients. The hospital's prestigious research efforts and innovative treatment methods make it a leader in spine research and have allowed the hospital and its staff to significantly improve care of young patients with spinal deformities throughout Texas, the United States and the world.