Meet the Expert: Erin Heinzen
Dr. Erin Heinzen seeks to understand the underlying genetic causes of epileptic seizures – paving the way for more targeted treatment
Story by Ryan McDaniel | Published October 3, 2023
In April 2003 The Human Genome Project achieved its first major milestone – generating the first sequence of the human genome. At the time, Dr. Erin Heinzen, PharmD ’01, PhD ’04, was in graduate school at the UNC School of Pharmacy. Her PhD research was focused on pharmacodynamic modeling of opioid tolerance, but the Human Genome Project’s breakthrough for the fields of biology and medicine would send her in another direction entirely.
“The prospect of genetics and how it could transform our understanding of why diseases occur and how to treat patients was too exciting not to get involved,” Erin recalls. “I went on to do postdoctoral training in human disease genetics with a focus in epilepsy.”
Since then, Erin’s work has been to discover the underlying genetic causes of epilepsy. As one might expect, the genetic variants responsible may be inherited from parents, but they can also arise spontaneously during one’s lifetime. “Both kinds of genetic variants are present in everyone and most of the time these variants do not cause a person to get a disease,” explains Erin. “However, sometimes the genetic variants can arise in an important gene essential to brain development or functioning and can cause a person to develop epilepsy. Our job is to . . . figure out which ones are likely to cause seizures.”
Her career investigating these genes has gone from Duke and Columbia back to UNC, where she is focusing on moving these discoveries closer to the patient. “I was ready to come back to UNC and focus on translating these gene discoveries into novel treatment approaches for epilepsy,” she says.
“Most antiseizure medications stop seizures by acting on a few targets that keep neurons from firing too much,” Erin elaborates. “Our hope is that by discovering genes that cause epilepsy and what those genes do in the brain that we will be able to identify new ways to treat seizures in a much more targeted way.”
UNC is the right place for Erin to conduct her research. She holds a joint appointment with the Eshelman School of Pharmacy and with the Department of Genetics in the School of Medicine. The University provides Erin with ample opportunity to team with other world-class researchers. “My research is better because of all my collaborators,” she says. “The School has changed in many ways since I was a student but one thing that has remained the same is the culture of collaboration and innovation.”
One of her collaborators is Dr. Fernando Pardo-Manuel de Villena, chair of the Department of Genetics at the School of Medicine. “Erin Heinzen is a great example of two of the most cherished values for which Carolina is known around the world; state of the art research in an area of high societal impact . . . and a spirit of open and productive collaboration across units in the Chapel Hill campus and beyond,” Fernando shares.
Outside of the lab, Erin cherishes her time with family. She and her husband of 23 years have two children, aged eight and eighteen. She loves reading, swimming, and listening to true crime podcasts. Her most recent joy comes from gardening which, of course, is the oldest form of genetic research through humans’ careful selective breeding of plants. Not that that’s why Erin enjoys it so much. “The thrill for me is watching amazing plants grow from tiny seeds and maintaining the garden once grown,” she shares.
Erin has steadily seen her body of research grow, too. Thus far, she has contributed to the discovery of 15 novel epilepsy genes as well as the gene responsible for Alternating Hemiplegia of Childhood, a rare neurodevelopmental disorder. Her aim is always to bring better treatments to patients. “Approximately one-third of individuals with epilepsy continue to have seizures despite trials of all available medications,” she notes. “This statistic is big part of the reason I have felt compelled to, throughout my career, to focus my research efforts in epilepsy.”
Erin understands, too, that she cannot do this alone and has optimistically embraced team science. As Fernando puts it, this level of collaboration “requires us at academic institutions to re-imagine how to properly give credit to faculty involved in large international consortia. This is the way of the future and Erin has been a trailblazer.”