
The Center of Excellence in Genomic Science (CEGS) at Johns Hopkins is a multi-investigator, interdisciplinary research effort focused on understanding the epigenetic basis of common human diseases such as autism and bipolar disorder.
Epigenetics is the study of heritable changes in cells that are not included in the DNA sequence itself. Just as the DNA is the cell’s alphabet, epigenetics is the grammar that provides context to the DNA sequence. Types of epigenetic changes include “adjectives” such as DNA methylation, “sentence structure” involving chromatin modification, and “chapter organization” involving higher order structural organization of gene regions in the nucleus. An important consequence of epigenetic modification is genomic imprinting, which causes the relative silencing of one parental copy of a gene, violating classical Mendelian laws of inheritance.
The Hopkins CEGS is developing and using new tools and methods for characterizing epigenetic marks at a genome scale, including array based analysis of DNA methylation and allele-specific gene expression. In addition, we are pioneering the field of “statistical epigenetics” involving methods for comparing epigenetic array-based information across samples. We also are developing tools to deal with the inherently quantitative nature of epigenetic information, in contrast to DNA sequence.
The CEGS also is developing new epidemiological approaches to the epigenetics of human disease. Currently we are collaborating with a decades-long cohort at the Icelandic Heart Association, and studying neuropsychiatric diseases including autism and bipolar disorder.
The CEGS has a strong commitment to increasing minority involvement in genetics and genome sciences and is recruiting gifted minority high school students to the Johns Hopkins Center for Talented Youth where they take Genetics and Genome Sciences and get hands-on laboratory experience during internships at the CEGS laboratories, and ultimately participate in the Minority Summer Internship Program for college students.
The CEGS at Hopkins is an extramural research program funded by the National Human Genome Research Institute and National Institute of Mental Health at the National Institutes of Health.



