The Woolcock Institute of Medical Research

Epigenetic Causes of Disease

There is an epidemic of chronic noncommunicable diseases occurring throughout the developed world, a common feature being the presence of chronic low-grade systemic inflammation and dysregulation of several key metabolic control systems within the body. An emerging body of evidence implicates harmful epigenetic modifications as an underlying causative mechanism.

Epigenetics is the study of heritable changes in gene expression that occur without altering the underlying DNA sequence. Essentially, it's how your behaviours and environment can influence which genes are turned on or off, affecting how your body reads and uses its genetic code. These changes can be influenced by factors like diet, stress, and exposure to toxins, and can even be passed down to future generations.

Pregnancy Exposure Risks: What Clinicians Should Know

Pregnancy is a critical window of vulnerability during which maternal environmental exposures can have long-lasting effects on fetal development and lifelong health. Increasing evidence from epidemiological and experimental studies implicates a wide range environmental toxicants, such as air pollution, in adverse pregnancy outcomes and developmental programming of chronic diseases.

Key Risks and Sources

Air Pollution: Exposure to fine particulate matter (PM2.5), nitrogen dioxide (NO₂), and ozone has been linked to low birth weight, preterm birth, and increased risk of respiratory disorders in offspring. Even short-term spikes in air pollution can be detrimental.

Clinical Implications

Clinicians should be aware of environmental histories when consulting pregnant patients, particularly those living in urban areas and working in high-risk occupations. Key strategies include:

• Asking about residential proximity to busy roads and industrial sites, particularly those known to undertake combustion activities.
• Increased awareness around bushfire events, where biomass combustion causes significant increases in PM2.5 and NO2.
• Advising patients to reduce indoor air pollution by ventilating homes and using HEPA filters when appropriate.
• Supporting vaccination and good prenatal nutrition, which can mitigate some environmental risks.

Advice in Short

Environmental exposures during pregnancy are modifiable risk factors. By integrating basic environmental health screening into antenatal care, clinicians can play a critical role in reducing avoidable harm and supporting healthy fetal development. Awareness and prevention are key—small changes can yield lifelong benefits for the next generation.

Research at the Woolcock

The Woolcock’s Epigenetics of Chronic Disease Group aims to identify key causative epigenetic modifications for chronic disease. They study how the maternal environment reprograms epigenetic markers to affect health and disease risk across the life course. Their investigations take advantage of recent advances in long-read gene sequencing technology to draw a much more complete picture of epigenetic causation of chronic disease, develop a better understanding of the underlying causes of disease resulting from modern lifestyles and provide clear targets for therapeutic intervention.

Find out more

• Our Epigenetics of Chronic Disease research group