Grant supports study of abnormal ring-shaped chromosomes

October 09, 2007

When chromosomes, which are normally bar-shaped, instead bend into a ring before birth, they may disrupt normal development and cause a multitude of problems. Genetics experts at The Children's Hospital of Philadelphia will be investigating one such disorder, supported by a $126,000 grant from the Ring Chromosome 20 Foundation.

Ring chromosome 20 syndrome, so-called because it affects the 20th of the 23 human chromosomes, often causes a severe form of epilepsy that is difficult to treat. First described in 1972, it is considered relatively rare. "The actual prevalence is uncertain, because it may go undiagnosed in some patients with severe epilepsy," says Nancy B. Spinner, Ph.D., a geneticist at Children's Hospital who leads the new project.

"We believe that the abnormal ring shape that occurs in this disorder interferes with the normal function of genes on chromosome 20, leading to the pattern of abnormalities seen in patients," added Dr. Spinner. In addition to epilepsy, the symptoms, manifesting themselves in childhood or adolescence, may include mental retardation, growth disturbances and small head circumference.

The Ring Chromosome 20 program will initially identify patients with the syndrome, establish cell lines and a clinical database, map the chromosome and analyze patterns of gene expression, in building a knowledge foundation for eventually guiding the way to future treatments for the disorder.

Dr. Spinner, the director of the Clinical Cytogenetics Laboratory at Children's Hospital, previously discovered genes responsible for the genetic disease Alagille syndrome, which affects multiple organs. Children's Hospital has one of the world's leading programs for the diagnosis and treatment of genetic diseases in children.

Dr. Spinner will be collaborating with the hospital's new Center for Applied Genomics to better define the molecular defects occurring in ring chromosome 20 syndrome. Established in July 2006, the center is the world's largest program dedicated to genetic analysis of childhood diseases. "After we understand the underlying molecular processes, we hope this will lead to the development of potential treatments for the syndrome," said Dr. Spinner, who is a professor of Human Genetics in Pediatrics at the University of Pennsylvania School of Medicine.
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The Ring Chromosome 20 Foundation, based in London and New York, was established in 2003 to provide information, resources and assistance to families affected by ring chromosome 20 syndrome. Its Web site is www.ring-chromosome-20.org.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

Children's Hospital of Philadelphia

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