Aggregates of the SAGA protein Ataxin-7 in Spinocerebellar Ataxia-7 astrocytes. Courtesy of Sean McCullough, graduate student in Dr. Patrick Grant's laboratory.

Research in Epigenetics at UVA focuses on the study of heritable changes in phenotype and gene function that are not caused by direct alterations in DNA sequence.

DNA in eukaryotic cells is packaged into chromatin by histone proteins.  DNA-driven cellular processes such as gene expression require alteration of chromatin structure to access this packaged DNA.  Epigenetic changes, including chromatin remodeling, histone exchange, or chemical modification of histone proteins, affect access to chromatin DNA. Modifications to the chromatin through processes such as DNA methylation and histone acetylation are being increasingly appreciated as key determinants of cellular phenotype.  Epigenetic chromatin modification is also influenced by environmental factors and can be stably transmitted across generations.

Improved understanding of epigenetic processes is producing exciting advances in cancer detection and treatment. For example, epigenetic profiles can improve cancer detection, and new anti-cancer drugs target the chromatin modifying machinery.

The UVA epigenetics research groups utilize model organisms, mammalian cells and human-derived samples in their studies.  A variety of experimental approaches, including biochemistry, genetics, genome-wide analysis and bioinformatics, and behavioral studies are being applied to study epigenetic mechanisms and changes associated with human disease.