Bioinformatics for the study of gene regulation

Genetic diseases can result from subtle variations in the DNA sequences of genes. Approximately three million differences exist between the DNA of any two individuals. While most of these differences have no functional impact, researchers have linked numerous variations to diseases. These linkages have provided insight into disease development, enabled the creation of diagnostic tests and accelerated the creation of therapeutics. Most of the known functional DNA variations result in decreased activity of proteins produced by a gene. But Dr. Wyeth Wasserman suspects many functional variations actually alter gene activity, rather than the sequence of proteins encoded by genes. This is because information flows from genes through an intermediate RNA molecule, and is translated to construct proteins. Variations that disrupt this flow could have dramatic consequences. Using bioinformatics (analysis of genetic data using advanced computing algorithms), Dr. Wasserman aims to identify regulatory variations that likely impact gene function and contribute to genetic diseases.