Epigenetics is the study of both genetic and external factors, such as environmental exposure or lifestyle choices by parents or grandparents, which affect gene expression. Epigenetic disruptions play a key role in disease. Finding epigenetic biomarkers, however, is complicated by the complexity of epigenetic signaling in cells or tissues, as well as the fact that many different genetic disorders, such as pediatric developmental disorders, can show similar clinical symptoms. Despite the wealth of data being generated by new technologies, there is a dearth of diagnostic tools that can consolidate epigenetic data collected by diverse groups using different experimental platforms. These tools are essential to relate molecular patterns to clinical presentation.
Drs. Michael Brudno and Rosanna Weksberg of Toronto’s Hospital for Sick Children are developing a novel web-based resource for analyzing epigenetic datasets together with complete clinical information, focusing on developmental disorders such as intellectual disability and autism. Their system will provide a rich context for exploring epigenetic dysregulation in a growing number of childhood epigenetic diseases.