Skip to main content

Erin Heinzen

Associate Professor

Erin Heinzen, Pharm.D., Ph.D.

Associate Professor

photo of Erin Heinzen

(919) 843-5981
120 Mason Farm Road, 1043 Genetic Medicine Building, 7361, Chapel Hill, NC, 27599

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.

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.

Dr. Heinzen directs an NIH-funded research program focused on the identification and functional characterization of genetic variants in epilepsy disorders. The lab uses a variety of cutting-edge approaches including next-generation short-read sequencing, long-read whole genome sequencing, single cell RNAseq, induced pluripotent stem cell-derived neuronal models of genetic epilepsies, and multi-electrode array technologies to advance the research goals. The group is always interested in exploring new approaches to answering complex research questions to advance neurogenetics and identify novel treatment approaches for intractable seizures.

Research projects:

  • Identification of somatic mutations underlying malformations of cortical development and other forms of focal epilepsy using short and long read next generation sequencing and duplex sequencing
  • Using genomewide CRISPR-screening approaches to identify novel therapeutic targets for neurodevelopmental disorders caused by haploinsufficiency
  • Studying the effects of recently identified genetic variants that cause pediatric brain malformations on neuronal migration and development in 2D and 3D induced pluripotent derived neuronal models of neurodevelopmental disorders
  • Using single-cell RNA and DNA sequencing to identify transcriptomic profiles associated with mosaic variants in human brain tissue

Learn More About the Heinzen Lab

  • Pharm.D., University of North Carolina at Chapel Hill
  • Ph.D., Pharmaceutical Sciences, University of North Carolina Chapel Hill
  • Pharmacist licensure in North Carolina and New York

  1. Lu J, Toro C, Adams DR, Undiagnosed Disease Network, Lee WP, Leung YY, Vardarajan B, Heinzen EL. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics 2023 (accepted for publication).
  2. Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. Eur J Hum Genet. 2023 Dec 14.
  3. Miller KE, Rivaldi A, Shinagawa N, Navarro J, Sran S, Westfall J, Miller AR, Roberts R, Hernandez Gonzalez ME, Akkari Y, Supinger R, Hester M, Marhabaie M, Gade M, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Goldman JE, Thomas D, Boué D, Ostendorf AP, Mardis ER, Poduri A, Daniel Koboldt D, Heinzen EL, Bedrosian TA. Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nature Genetics 2023 55;1920-1928.
  4. International League Against Epilepsy Consortium on Complex Epilepsies. Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture. Nat Genet. 2023 Sep;55(9):1471-1482.
  5. Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL. Somatic variants in diverse genes lead to a spectrum of focal cortical malformations. 2022 Aug 27;145(8):2704-2720.
  6. Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 Jun;83(6):1133-1146.
  7. Heinzen EL, O’Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 May 8;14(5):e1007281.
  8. Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 5;101(4):516-524. PMID: 28942967. PMCID: PMC5630160.
  9. Griffin NG, Wang Y, Hulette CM, Halvorsen M, Cronin KD, Walley NM5, Haglund MM, Rodney A. Radtke RA, Skene JHP, Sinha SR, Heinzen EL. Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis. Epilepsia 2016.
  10. Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB. Annu Rev Neurosci. 2015 Jul 8;38:47-68. PMID: 26410222
  11. EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Am J Hum Genet. 2014 Oct 2;95(4):360-70. PMID: 25262651; PMCID: PMC4185114.
  12. Heinzen EL*, Swoboda KJ*, Hitomi Y*, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l’Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. PMID: 22842232; PMCID: PMC3442240.



Erin Heinzen News