Cracking The Code: Uncovering the Impact of early life environment on human health.

Epigenetics is an exciting and rapidly expanding field in biology that has garnered interest in its applications to human health. It offers a promising approach to our understanding of how environmental factors can impact gene expression and contribute to the risk of chronic conditions.

Jeff Craig, Professor of Epigenetics and Cell Biology at Deakin University – Waurn Ponds, Victoria, and his team are applying genomic techniques to investigate epigenetic and cell biology to develop practical applications in health and disease. “Our research goal is to help mitigate the effects of early life environment on the risk of chronic neurological conditions such as cerebral palsy,” explains Jeff.

To achieve this goal, they have developed a sample cohort from twins, known as the Peri/postnatal Epigenetic Twin Study (PETS), funded by the NHMRC. This study, initiated at the Murdoch Children’s Research Institute with Professor Richard Saffery, focuses on cardiometabolic function, cognition and brain structure and function of identical and fraternal twins, within a set of time periods ranging from prebirth to 11 years old. These time periods provide a unique longitudinal snapshot to help answer whether early life environments have a persistent association with the epigenetic state.

The team has been working with AGRF to perform genome-wide methylation screening using the Infinium MethylationEPIC array on more than 1,000 samples. Jeff highlights that advances in genetic techniques have significantly enhanced the accuracy of genome annotation, resulting in more meaningful datasets. “We’ve specifically used the Infinium arrays due to their ease of use, affordability and the availability of extensive comparative data,” says Jeff. Working with AGRF has proven invaluable to Jeff in fulfilling his research requirements. He commends the excellent communication and prompt responsiveness, noting, “They take the time to understand my research needs and make available technical and other staff to assist me.”

Through twin studies, Jeff’s team is using epigenetics to understand the contribution of genetics and environment to an individual’s genes. “Epigenetics is the layer of information that surrounds DNA,” explains Jeff. “It influences which genes in an individual’s genome can be switched on or off.” Factors such as trauma, aging, stress, and illness have been shown to have epigenetic effects. Taking cerebral palsy as the example, one of the team’s hypotheses was that genes related to hypoxia, inflammation and thrombosis are associated with the condition. By comparing the DNA methylation profiles of twins with and without cerebral palsy, the researchers aimed to identify the differences in the genome and understand the underlying mechanisms.

One of the main findings of the investigations indicated an association of inflammatory pathways. “Once we understand the mechanisms and interactions of these pathways, there is potential to develop avenues for diagnosis, treatment and therapy,” says Jeff. The clinical goal is to develop susceptibility models/scores for various conditions to be able to intervene for better long-term patient outcomes where early intervention may prevent or reduce the effects of disease or provide better early management strategies.

In the future, the team hopes to follow up with the twin birth cohort as they age and measure the same patients at additional time periods as they progress through to adulthood. “We want to see how their epigenomes change over time,” says Jeff. To ensure the research is relevant, the team also plans to undertake community consultation on the important aspects to consider for children going into their teenage years and then adulthood – so the research ultimately helps those who need it the most.