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Einstein College of Medicine given $6.7 million to study congenital heart defect genetics
Date:10/11/2011

f samples obtained for research.

TBX1, one of the genes in the deleted 22q11.2 region, is largely responsible for the physical abnormalities in the disorder. Since the symptoms of 22q11DS vary from mild to serious, Dr. Morrow believes that DNA variations in other genes may influence disease severity. Her continued research funded by this grant will involve tracking down these "modifier genes" and determining how they interact with each other and with TBX1. She will be using DNAs from human subjects and mouse models of the syndrome in her research.

In another part of the study, the researchers will examine whether genes involved in 22q11DS also play a role in "non-syndromic" CTDs. These defects are more common than the CTDs associated with 22q11DS and thus relevant to a larger number of people.


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Contact: Kim Newman
sciencenews@einstein.yu.edu
718-430-3101
Albert Einstein College of Medicine
Source:Eurekalert

Page: 1 2

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