Thomas Gingeras

Thomas Gingeras and colleagues study where and how functional information is stored in genomes. These efforts help explain the biological and clinical effects of disease-causing gene mutations in humans and other organisms. Gingeras is a leader of the ENCODE (ENCyclopedia of DNA Elements) and the mouseENCODE and modENCODE (model genome ENCODE) projects of the National Institutes of Health. His research has altered our understanding of the traditional boundaries of genes, revealing that almost the entire lengths of genomes in organisms ranging from bacteria to humans can be transcribed into RNA (pervasive transcription) and that most RNA products made by a cell are not destined to be translated into proteins (noncoding, or ncRNAs). In fact, ncRNAs are proving to be involved in a variety of other important biological functions. Some have been shown to be critical components in the pre- and posttranscriptional and translational processes, as scaffolds upon which large protein complexes are assembled and as extracellular signals. The initial studies that led to these observations have been extended to cover the entire human genome. The initial studies that led to these observations have been extended to cover the entire human genome. The maps of where and what types of RNA are transcribed serves as a foundation by many areas of disease diagnosis and treatment. In particular non-protein coding (nc)RNAs are responsible for the expression of the regulatory gene, PTEN. In endometrial cancer dysregulation of PTEN via overexpression of a lncRNA (HOTAIR) binding to PTEN. Such overexpression of HOTAIR occurs in obese individuals due to dysregulation of adipogenesis and lipid metabolism leading to endometrial cancer.