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Molecular Therapy Succeeds in Preventing Craniofacial Birth Defect in Mice
Date:2/6/2008

Research by March of Dimes Grantee Offers Hope for Treatment of Children

WHITE PLAINS, N.Y., Feb. 6 /PRNewswire-USNewswire/ -- A new gene-based technique has successfully prevented a rare craniofacial birth defect in mice and holds promise to help children with the same disorder, according to new research funded in part by the March of Dimes.

The finding, which is being published in the journal Nature Medicine, demonstrates the potential for translating basic research into new treatments, said Michael Katz, M.D., senior vice president for Research and Global Programs at the March of Dimes.

Paul A. Trainor, Ph.D., a March of Dimes research grantee, and a team of scientists at the Stowers Institute for Medical Research in Kansas City, Missouri, demonstrated that they could prevent Treacher Collins syndrome (TCS) in mice by either inactivating a gene associated with the disorder or by inhibiting a protein produced by the gene.

In TCS, mutations in the TCOF1 gene on chromosome 5 causes a high degree of cell death in the embryo, resulting in a deficiency in a cell population called the neural crest that is essential for generating most of the bone and cartilage that make up the head and face. Dr. Trainor's team showed in 2006 that the loss of these cells results in abnormal embryonic development of structures such as the ear, nose, palate, and upper and lower jaws.

About one in 50,000 people is affected by TCS, also called mandibulofacial dysostosis. The condition is characterized by underdeveloped, malformed, or missing facial structures. Severely affected children often require multiple reconstructive surgeries, which may not fully correct the disorder.

In about 60 percent of cases, TCS results from new gene mutations and occurs in people with no history of the disorder in their family. Less frequently, TCS is inherited in an autosomal dominant pattern, meaning that one parent has the disorder and has passed
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SOURCE March of Dimes
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