About

• Mentorship Training Completions:
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• Department Affiliations:
• Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy; Department of Genetics, School of Medicine

• Other UNC PhD Program Affiliations:
• Bioinformatics and Computational Biology; Neuroscience; Cell Biology and Physiology; Pharmaceutical Sciences (School of Pharmacy)

Erin Heinzen, Pharm.D., Ph.D., is an associate professor at the UNC Eshelman School of Pharmacy in the Division of Pharmacotherapy and Experimental Therapeutics with a joint appointment in the UNC Department of Genetics. Dr. Heinzen received her Pharm.D. (2001) and her Ph.D. (2004) in Pharmaceutical Sciences from the University of North Carolina at Chapel Hill. She then went on to do postdoctoral training in human genetics at Duke University. Previously she served as Deputy Director of the Institute for Genomic Medicine and was the Herbert Irving Assistant Professor of the Department of Pathology & Cell Biology at Columbia University. Dr. Heinzen is a licensed pharmacist in North Carolina and New York.

Dr. Heinzen’s research broadly focuses on neurodevelopment disease genetics. She has contributed to the discovery of 15 novel epilepsy genes, and the gene responsible for Alternating Hemiplegia of Childhood, a rare neurodevelopmental disorder. She part of multiple highly collaborative research groups including the Epi4K Consortium, Epi25 Collaborative, EPIGEN, the ILAE Consortium of Complex Epilepsies, Pediatric Status Epilepticus Research Group, and the Epilepsy Genetics Initiative. Dr. Heinzen’s research program is funded by the National Institutes of Neurological Disorders and Stroke and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

My Research

The Heinzen Lab focuses on the genetic and genomic basis of epilepsy disorders, including analyses of the role of germline mutations, somatic mutations, and how regulation of the cellular transcriptome influences the risk and presentation of seizures.

A current area of concentration is studying the role of somatic mutations in epilepsy and other neurological diseases. Unlike inherited variation or newly acquired mutations in parental gametes that present in the germline of offspring, mutations can also be acquired somatically at some point in development after fertilization. The burden and localization of a somatically acquired mutation depends on when each mutation arises. There is accumulating evidence that new mutations can lead to disease, and in some cases, severe tissue-specific disease. Dr. Heinzen’s lab currently has active research projects seeking to identify disease-causing somatic mutations in patients with brain malformations and in patients who have drug-resistant non-lesional focal epilepsy. This research led to the identification of somatic SLC35A2 variants in intractable neocortical epilepsy. Building from this discovery, the group now also has a research program that uses induced pluripotent stem cell derived neurons to study effects of somatic SLC35A2 variants on neural development and activity and explore novel treatment approaches for this form of genetic epilepsy.

The Heinzen lab also studies the transcriptome in brain tissue of epilepsy patients to better understand how regulation at this level may cause or contribute to the presentation of epilepsy. Making use of therapeutically excised tissue specimens from patients with a range of refractory epilepsies, the lab uses a variety of experimental approaches to study the tissue and cellular transcriptome and subsequently relate transcriptional changes to pathological endpoints.