Implicit to understanding the mechanisms underlying health and disease is the characterization of genomic and epigenetic factors that contribute to the etiology of common chronic disorders. Genomic risk is accounted for by DNA sequence variation at single and multi-base pair levels, while epigenetic risk factors arise from aberrant non-DNA sequence-based heritability. The Section of Genomics & Epigenetics in the DMPI uses cutting edge molecular tools to unravel these genomic and epigenetic causes of disease.

For decades, unbiased genetic linkage and association studies provided the mainstay for identifying disease genes. However, the advent of high-throughput technologies resulted in a dramatic shift towards discovering the 'missing heritability' implicated in the development of disease that was not identified by traditional genetic approaches. This 'missing heritability' includes rare genetic variation and epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs that play significant roles in the regulation of gene expression. The strength of the DMPI Section of Genomics & Epigenetics is its fluency in applying traditional genome-wide approaches for gene discovery, but also its familiarity with interrogating the modalities of 'missing heritability' in the development of disease.

Within the DMPI Section of Genomics & Epigenetics is the Molecular Genetics Core (MGC) Laboratory. This state-of-the-art facility offers a variety of experimental platforms to facilitate genetic, genomic, and epigenetic research. A wide range of instrumentation is available to perform genome-wide and targeted genotyping studies; next-generation sequencing for high throughput genomic, transcriptomic and epigenomic approaches; as well as copy number variation and DNA methylation profiling using chip-based platforms.

Research within the Section of Genomics & Epigenetics is highly varied in scope and modality, but the underlying emphasis is on the identification of the genetic, genomic and epigenetic mechanisms that cause Mendelian and complex disease phenotypes.  Recent projects have included cardiovascular diseases, developmental phenotypes (1), liver disease (2,3), ocular phenotypes (4), muscular and neurodegenerative disorders, psychiatric disorders, and cancer.

DMPI Shared Resource used by the Genomics & Epigenetics Research Group.

Our mission is to produce integrated multi-omics and physiologic profiles of chronic human diseases, and to use such profiles to develop new disease detection strategies, novel therapies, and insights into disease mechanisms.