Identification of alternative splice variants and changes in patterns of alternative splicing involved in cancer by bioinformatic analysis and expression studies

The Human Genome Project identified approximately 25,000 genes in human DNA, which was much less than expected. However, about 60 percent of these genes undergo alternative splicing, in which one gene is assembled from its component pieces in many different ways. This phenomenon enables genes to have incredibly diverse variations that represent hundreds of thousands of functional units. Malachi Griffith is studying how changes in certain genes due to alternative splicing may have an important role in cancer progression and could account for differences in the severity of the disease from one individual to another. Malachi is comparing large sets of data from genes in healthy individuals and cancer patients to determine if differences in gene forms help explain the causes of different cancers. Findings could contribute to improved diagnosis and treatment of cancer.