Erin Heinzen, Pharm.D., Ph.D.
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-electrotrode 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.
- Identification of somatic mutations underlying malformations of cortical development
- Identification of somatic mutations underlying non-lesional focal epilepsy
- Development of novel methods to call somatic short-tandem repeat variants from next-generation sequence data
- Modeling SLC35A2 epilepsy in hiPSC-derived neuronal models
- 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
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.
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.
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.
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.
Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB. Annu Rev Neurosci. 2015 Jul 8;38:47-68. PMID: 26410222
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.
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