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A large number of epidemiology studies have suggested genetics alone cannot fully explain many forms of disease and most individuals with a disease do not appear to have correlated genetic mutations. The current proposal investigates an additional molecular mechanism, environmental epigenetics, as a causal factor for the etiology of disease. Epigenetics being “the molecular factors around DNA that regulate genome activity, independent of DNA sequence and classic genetic mechanisms”. Epigenetic transgenerational inheritance allows environmentally induced epigenetic states to be transmitted to future generations. The central theme of the proposed research is to develop epigenetic biomarkers for early stage diagnostics for disease susceptibility, and develop diagnostics for direct and ancestral exposures that promote disease.

The current paradigm in medicine today is “Reactionary Medicine”, which involves the treatment and therapy for a disease or condition after the pathology has developed. This reactionary medicine approach has been essential and in place throughout history. The vast majority of therapeutics and treatments developed are designed to combat disease after it develops. Preventative medicine has developed over the last few decades, but is limited due to the inability to effectively diagnose the susceptibility for disease, before the disease has developed. Observations from the proposed research will provide the proof of concept epigenetic diagnostics can be developed, and the exposure specificity and disease susceptibility of the different epigenetic biomarkers will be established. Studies with selected human disease cohorts (autism, hypospadias, premature birth and congenital heart disease) will be initiated to demonstrate the technology and approach can be used for translation to the human.