The Kiev Foundation has awarded Yale researchers a $320,000 grant to study new methods of treatment for Williams Syndrome. This chromosomal disorder is still incurable, and causes cardiovascular and connective tissue problems. Williams Syndrome, occurres in about one in every 10,000 births, and is caused by the deletion of genes on chromosome 7. Characteristics of this chromosomal disorder include a flattened nasal bridge; small, upturned nose; slack joints and complications in blood flow, because of thickened arterial walls, including the main artery that leaves the heart.
Yale researches supported by the Kiev Foundation grant include Frank Giordano, M.D., William C. Sessa, professor and vice chair of the Department of Pharmacology; and George Tellides, M.D., professor of surgery (cardiothoracic). This team will study the elastin gene, hoping to design new treatments for Williams Syndrome.
The most severe problems of this disorder are the result of the loss of one copy of elastin, which is a gene on chromosome 7. It plays a big part in maintaining artery walls.
Giordano and Sessa will carry out the Studies into whether the erasure of one copy of elastin causes changes in gene expression. Meanwhile, Giordano’s lab will work on engineering transcription factors as a means of treatment. Sessa lab will focus on identifying microRNAs that will help increase that expression, while Tellides will look into pathways which activate when cells divide.