Recently promoted to full professor, Erin Heinzen, PharmD, PhD, studies the genetic causes of epilepsy and other neurodevelopmental disorders to develop new therapies for children with severe, drug-resistant seizures.
Erin Heinzen, PharmD, PhD, researcher and professor in the Division of Pharmacotherapy and Experimental Therapeutics at the UNC Eshelman School of Pharmacy, studies the genetic causes of epilepsy and neurodevelopmental disorders.
“A major focus of our work is identifying genetic changes that cause individuals to develop seizures,” said Heinzen. “Once we identify these variants, we study how they affect brain development in order to develop better treatments.”
Recently, Heinzen was promoted to full professor in recognition for her contributions to research, teaching, and patient-centered innovation.
“Dr. Heinzen’s internationally recognized research program has significantly advanced our understanding of the genetic and genomic basis of epilepsy disorders, and is driving the development of more precise diagnostic tools and therapeutic strategies that will improve the lives of patients,” said Chair of the Division of Pharmacotherapy and Experimental Therapeutics Craig Lee, PharmD, PhD. “She is a highly regarded thought leader and collaborator in her field, and is an outstanding educator, mentor, and leader within our School and across campus.”
In 2018, Heinzen’s group discovered that genetic variants that cause a person to lose a protein called SLC35A2 leads to seizures that do not respond to any available medication. SLC35A2 encodes a protein that regulates glycosylation––a process that adds sugars to proteins and lipids to regulate their activity.
“Since coming to Carolina in 2020, we have discovered that losing SLC35A2 causes neurons to not grow or fire properly,” she said. “We are now working on discovering ways we can correct these changes to stop people with these genetic variants from continuing to have seizures.”
Heinzen views her promotion to full professor as an opportunity to continue advancing research and improve the lives of patients experiencing debilitating neurological disorders.
Drawing on her background in pharmacy and genetics, Heinzen aims to “come full circle” by using genetic insights to inform treatment development and advance pharmacotherapy for children whose seizures don’t respond to any available medications.
“We are at a very exciting time in history with unprecedented technological advancements that allow us to replace defective genes and correct processes that cause disease,” Heinzen said. “This is going to change how we approach treatment for people suffering from various genetic diseases.”
This article originally appeared in UNC Pharmacy news HERE.