Understanding the Impact of Environment on Genes

Genetic mutations — inherited from our parents and carried from birth — can increase our risk of developing diseases from schizophrenia to cancer. But environmental factors also play a critical role in determining who develops certain maladies and who doesn’t. Identical twins, for example, start with the same DNA, but as they age, variables such as diet, exercise, emotional experiences and chemical exposure can contribute to very different health outcomes.

The growing field of epigenetics studies the effects of environment on gene activation and expression. Created in 2017, Northwestern’s Simpson Querrey Center for Epigenetics (SQE) encourages collaborations to illuminate how environmental factors affect the human genome, impacting individuals and their health.

Bringing together experts in biochemistry, molecular genetics, computational biology, clinical medicine and other fields, the center is advancing epigenetic research to better understand, diagnose and treat disease. A $10 million gift from University trustees and generous supporters Louis A. Simpson ’58 and Kimberly K. Querrey fuels the work of the center. Housed in Northwestern University Feinberg School of Medicine, SQE recently moved to the new Louis A. Simpson and Kimberly K. Querrey Biomedical Research Center on Northwestern’s Chicago campus.

“Understanding epigenetics is at the central core of understanding many human diseases,” says SQE Director Ali Shilatifard, who also is the Robert Francis Furchgott Professor of Biochemistry and Pediatrics and chairman of biochemistry and molecular genetics at Feinberg. Already, SQE has attracted nearly 200 faculty affiliates from across Northwestern’s Evanston and Chicago campuses. Students and faculty are seizing opportunities for collaborative research and taking advantage of weekly seminars, annual symposia and training made possible by the gift from Simpson and Querrey.

Shilatifard’s own investigations focus on epigenetic modifications of human chromatin — the basic unit of our chromosomes — which regulate gene expression. He and his collaborators have performed groundbreaking studies on epigenetic-targeted therapeutics for childhood leukemia, childhood brain cancer and adult triple-negative breast cancer.

Such research, which links basic science to potential medical advances, has widespread implications. For example, understanding how and why gene expression may cause cellular dysfunction in the initial stages of breast cancer could improve early detection of the disease.

In 2018 the journal Nature Medicine published a study by Shilatifard and his colleagues that identified a mechanism to slow the growth of cancerous tumors caused by an epigenetic imbalance. Northwestern investigators have since launched a clinical trial that could lead to better survival rates among patients with late-stage bladder cancer.

In the coming decade, Shilatifard says, “My hope is that from the discoveries made at Northwestern Medicine and SQE, we can develop a series of epigenetic-targeted therapeutics for the treatment of a variety of human diseases, including cancer.”