{"id":16594,"date":"2026-01-23T09:52:05","date_gmt":"2026-01-23T14:52:05","guid":{"rendered":"https:\/\/www.med.unc.edu\/genetics\/?p=16594"},"modified":"2026-01-23T09:52:05","modified_gmt":"2026-01-23T14:52:05","slug":"advancing-genetic-treatment-for-pediatric-epilepsy","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/advancing-genetic-treatment-for-pediatric-epilepsy\/","title":{"rendered":"Advancing genetic treatment for pediatric epilepsy"},"content":{"rendered":"
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\"Erin<\/figure>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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January 7, 2026<\/div>\n

Written by Safa Tonuzi, photo by Danny Alexander<\/span><\/p>\n<\/div>\n

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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.<\/p>\n<\/div>\n

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Erin Heinzen, PharmD, PhD,\u00a0researcher\u00a0and professor\u00a0in the Division of Pharmacotherapy and Experimental Therapeutics\u00a0at the UNC Eshelman School of Pharmacy,\u00a0studies\u00a0the genetic\u00a0causes of epilepsy and neurodevelopmental disorders.<\/p>\n

\u201cA major focus of our work is identifying genetic changes\u00a0that cause individuals to develop\u00a0seizures,\u201d said Heinzen. \u201cOnce we identify these variants, we study how they affect brain development in order to develop better treatments.\u201d<\/p>\n

Recently, Heinzen\u00a0was promoted to full professor in recognition for her contributions to research, teaching,\u00a0and patient-centered innovation.<\/p>\n

\u201cDr. Heinzen\u2019s internationally recognized research program has significantly advanced our understanding of the genetic and genomic basis of epilepsy\u00a0disorders, and\u00a0is driving the development of more precise diagnostic tools and therapeutic strategies that will improve the lives of patients,\u201d said\u00a0Chair of the\u00a0Division\u00a0\u00a0of\u00a0Pharmacotherapy and Experimental Therapeutics\u00a0Craig\u00a0Lee, PharmD, PhD.\u00a0\u201cShe 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.\u201d<\/p>\n

In 2018, Heinzen\u2019s group discovered that genetic variants that cause a person to lose a protein called SLC35A2\u00a0leads\u00a0to\u00a0seizures that do not respond to any\u00a0available\u00a0medication.\u00a0SLC35A2 encodes a protein that\u00a0regulates glycosylation\u2013\u2013a process that adds sugars to proteins and lipids to regulate their activity.<\/p>\n

\u201cSince coming to\u00a0Carolina\u00a0in 2020, we\u00a0have discovered that losing SLC35A2 causes neurons to not grow or fire properly,\u201d she said. \u201cWe\u00a0are now working on discovering ways we can\u00a0correct these changes\u00a0to stop\u00a0people with these genetic variants\u00a0from\u00a0continuing to have seizures.\u201d<\/p>\n

Heinzen\u00a0views\u00a0her\u00a0promotion\u00a0to full professor\u00a0as\u00a0an\u00a0opportunity\u00a0to\u00a0continue\u00a0advancing research\u00a0and improve the lives of\u00a0patients\u00a0experiencing\u00a0debilitating neurological disorders.<\/p>\n

Drawing on her background in pharmacy and genetics, Heinzen aims to \u201ccome full circle\u201d by using genetic insights to inform treatment development and advance pharmacotherapy for\u00a0children\u00a0whose\u00a0seizures\u00a0don\u2019t\u00a0respond to any\u00a0available\u00a0medications.<\/p>\n

\u201cWe 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,\u201d Heinzen said. \u201cThis is going to change how we approach treatment for people suffering from\u00a0various\u00a0genetic\u00a0diseases.\u201d<\/p>\n

This article originally appeared in UNC Pharmacy news HERE<\/a><\/strong>.<\/p>\n<\/div>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

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