A major effort of the Human Genetics Section focuses on the epigenome structure, including higher-order chromatin architecture and DNA methylation patterns. Special attention is devoted to how defects in the maintenance of epigenetic structures (or failures in programmed transitions, especially in the perinatal period) may underlie common developmental disorders and age-related diseases.
Bioinformatics tools are developed and implemented of facilitate human genome annotation and pattern recognition/comparison searches of chromatin immunoprecipitation data, as well as analysis of microarray and next-generation sequencing data. Together these genomics approaches are invaluable for identifying new features of developmental and age-related of epigenome remodeling.
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