{"id":9607,"date":"2020-10-29T11:16:01","date_gmt":"2020-10-29T15:16:01","guid":{"rendered":"https:\/\/www.med.unc.edu\/neurology\/?page_id=9607"},"modified":"2025-04-30T15:51:37","modified_gmt":"2025-04-30T19:51:37","slug":"research","status":"publish","type":"page","link":"https:\/\/www.med.unc.edu\/neurology\/divisions\/child-neurology-1\/patients\/epilepsy-neurogenetics\/research\/","title":{"rendered":"Research"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-11339\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2021\/07\/Research-graphic.jpg\" alt=\"Research\" width=\"200\" height=\"187\" \/><br \/>\nAlong with offering expert patient care, a key part of the UNC Epilepsy Neurogenetics Initiative (ENGI) is our translational research. By teaming up with doctors, researchers, and basic scientists, we can:<\/p>\n<ul>\n<li>Provide state-of-the-art care \u2014 connecting families to local, regional, and national studies;<\/li>\n<li>Link patients to genetic-specific treatment and clinical trials;<\/li>\n<li>Identify pathogenic gene variants and candidate risk genes;<\/li>\n<li>Improve understanding of cellular, molecular and nervous system function;<\/li>\n<li>Study the best practices to guide future implementation of genomic technologies;<\/li>\n<li>Take part in clinical trials and translational research in the field.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h2 class=\"section-som\"><span>ENGI Patient Registry<\/span><\/h2>\n<p>Our patient registry provides UNC researchers with invaluable information.<\/p>\n<p>Specifically, it allows us to:<\/p>\n<ul>\n<li>Identify previously unreported gene changes that cause or contribute to epilepsy;<\/li>\n<li>Clarify the natural history of genetic diseases and report novel disease phenotypes;<\/li>\n<li>Clarify the epidemiology and potential health care disparities in epilepsy and neurogenetics.<\/li>\n<\/ul>\n<hr \/>\n<p>Anyone with epilepsy may potentially be included in the registry if they fit the criteria.<\/p>\n<p>Please <a href=\"mailto:GDNDD@neurology.unc.edu\">contact us<\/a> for more information.<\/p>\n<p>&nbsp;<\/p>\n<h2 class=\"section-som\"><span>Research Projects &amp; Collaborations<\/span><\/h2>\n<p><em>UNC ENGI is collaborating with:<\/em><\/p>\n<table style=\"border-collapse: collapse; width: 100%; height: 46px;\">\n<tbody>\n<tr style=\"height: 23px;\">\n<td style=\"width: 25%; text-align: center; height: 23px;\"><a href=\"https:\/\/epi-25.org\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-20864 size-full\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/Epi25-Logo.png\" alt=\"\" width=\"212\" height=\"90\" \/><\/a><\/td>\n<td style=\"width: 25%; text-align: center; height: 23px;\"><a href=\"https:\/\/curedrpla.org\/en\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-20865\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/Cure-DRPLA-Logo.png\" alt=\"\" width=\"227\" height=\"90\" \/><\/a><\/td>\n<td style=\"width: 25%; text-align: center; height: 23px;\"><a href=\"https:\/\/www.rettsyndrome.org\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-20866\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/International-Rett-Syndrome-Foundation-Logo.png\" alt=\"\" width=\"213\" height=\"90\" \/><\/a><\/td>\n<td style=\"width: 25%; text-align: center; height: 23px;\">\n<h4><a href=\"https:\/\/www.med.unc.edu\/genysis\/\">Clinical Genomic Analysis (GENYSIS) Core<\/a><\/h4>\n<\/td>\n<\/tr>\n<tr style=\"height: 23px;\">\n<td style=\"width: 25%; text-align: center; height: 23px;\"><a href=\"https:\/\/www.perc-epilepsy.org\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-20867\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/PERC-Logo-300x86.png\" alt=\"\" width=\"300\" height=\"86\" srcset=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/PERC-Logo-300x86.png 300w, https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/PERC-Logo-600x172.png 600w, https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/PERC-Logo.png 681w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/td>\n<td style=\"width: 25%; text-align: center; height: 23px;\"><a href=\"https:\/\/www.med.unc.edu\/ncgenes\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-20869 size-medium\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/NCgenesFinal-for-Office-300x86.png\" alt=\"\" width=\"300\" height=\"86\" srcset=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/NCgenesFinal-for-Office-300x86.png 300w, https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/NCgenesFinal-for-Office.png 350w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/td>\n<td style=\"width: 25%; text-align: center; height: 23px;\"><a href=\"https:\/\/gregorconsortium.org\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-20868\" src=\"https:\/\/www.med.unc.edu\/neurology\/wp-content\/uploads\/sites\/716\/2025\/04\/GREGoR-Logo.png\" alt=\"\" width=\"315\" height=\"86\" \/><\/a><\/td>\n<td style=\"width: 25%; text-align: center; height: 23px;\">\n<h4><a href=\"https:\/\/www.med.unc.edu\/ppmh\/\">Program for Precision Medicine in Health Care (PPMH)<\/a><\/h4>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<h2 class=\"section-som\"><span>Clinical Trials &amp; Natural History Studies<\/span><\/h2>\n<strong>DRPLA natural history trial \u2013 Ataxia UK and CureDRPLA grant<\/strong><br \/>\nSite PI: Yael Shiloh-Malawsky; co-PIs: Zheng (Jane) Fan, Diana Cejas<\/p>\n<p><strong>Using wearable devices to detect non-epileptic myoclonus in individuals with Angelman syndrome \u2013 Tracs 50K grant<\/strong><br \/>\nUNC PI: Zheng (Jane) Fan; RTI PI: Hegarty-Craver; co-PI: Liz Jalazo, MD<\/p>\n<p><strong>An open-label, multicenter study to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of RO7248824 in participants with Angelman syndrome \u2013 Roche BP41674<\/strong><br \/>\nUNC PI\u2014Mark Shen, Co-PI: Zheng (Jane) Fan<\/p>\n<p><strong>Marinus Phase 3, Randomized, double-blind, placebo-controlled trial of adjunctive Ganaxolone (GNX) treatment in children and adults with tuberous sclerosis complex (TSC)-related epilepsy<\/strong><br \/>\nUNC PI\u2014 Chon Lee, Co-PI\u2019s: Qian-Zhou (Jojo) Yang, Senyene Hunter<\/p>\n<p><strong>Chromosomal disorganization in Down syndrome \u2013 Tracs 50 K grant<\/strong><br \/>\nPI: Hyejung Won, Co-investigator: Zheng (Jane) Fan<\/p>\n<p><strong>Rett Syndrome Registry (RSR) &#8211; Rett Syndrome Real World Data, Observational study<\/strong><br \/>\nSite PI: Yael Shiloh-Malawsky; Sub-I: Diana Cejas<\/p>\n<p><strong>A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose, Multicenter Study to Examine the Efficacy and Safety of Fenfluramin in Subjects with CDKL5.<\/strong><br \/>\nSite PI: Qian-Zhou (Jojo) Yang; Co-investigator: Yael Shiloh-Malawsky<\/p>\n<p><strong>N-of-2 individualized ASO study in twins with Batten disease CLN3, phase 1-2, Investigator Initiated Trial. ForeBatten Foundation.<\/strong><br \/>\nPI: Yael Shiloh-Malawsky; Co-investigators: Zheng (Jane) Fan, Elizabeth Jalazo<\/p>\n<p><strong>Brain waves and peripheral glucose levels during sleep in patients with diabetes<\/strong><br \/>\nPI: Janice Hwang; Co-PI: Zheng (Jane) Fan<\/p>\n<p><strong>A Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects with Angelman Syndrome<\/strong><br \/>\nPI: Elizabeth Jalazo, Co-investigator: Zheng (Jane) Fan<\/p>\n<p><strong>A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down Syndrome<\/strong><br \/>\nPI: Joseph Piven, Co-investigator: Zheng (Jane) Fan<\/p>\n<p><strong>Clinical Needs of Individuals with a Chromosome 15 Condition<\/strong><br \/>\nPI: Margaret DeRamus, Co-investigator: Zheng (Jane) Fan<\/p>\n<a class=\"btn btn-default btn-lg btn-block  oscitas-bootstrap-container\" target=\"_self\" href=\"https:\/\/researchforme.unc.edu\/index.php\/en\/find-studies\">Find these studies on UNC Research For Me<\/a>\n<p>&nbsp;<\/p>\n<h2 class=\"section-som\"><span>Contact Us<\/span><\/h2>\n<p><a href=\"mailto:GDNDD@neurology.unc.edu\">Contact us<\/a> to learn about the ongoing clinical trials, basic science and translational (bench-to-bedside) research being conducted at UNC.<\/p>\n<h2><a href=\"https:\/\/www.med.unc.edu\/neurology\/research-main\/neurosciences-clinical-trials-unit\/\">Neurology Clinical Trials Unit (NCTU)<\/a><\/h2>\n<h3>Stephanie Peck<\/h3>\n<p>Pediatric Neurogenetic Research Specialist, Neurology<\/p>\n<h3>Madelyn Vavrousek<\/h3>\n<p>Clinical Research Coordinator, Neurology<\/p>\n<h3>Yulissa Gonzalez<\/h3>\n<p>Clinical Research Coordinator, Neurology<\/p>\n<h3>Chris Hilliard, CCRC<\/h3>\n<p>Director, Neuroscience Clinical Trials Unit, Neurology<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Along with offering expert patient care, a key part of the UNC Epilepsy Neurogenetics Initiative (ENGI) is our translational research. By teaming up with doctors, researchers, and basic scientists, we can: Provide state-of-the-art care \u2014 connecting families to local, regional, and national studies; Link patients to genetic-specific treatment and clinical trials; Identify pathogenic gene variants &hellip; <a href=\"https:\/\/www.med.unc.edu\/neurology\/divisions\/child-neurology-1\/patients\/epilepsy-neurogenetics\/research\/\" aria-label=\"Read more about Research\">Read more<\/a><\/p>\n","protected":false},"author":58435,"featured_media":0,"parent":9600,"menu_order":14,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"layout":"","cellInformation":"","apiCallInformation":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-9607","page","type-page","status-publish","hentry","odd"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Research | Department of Neurology<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.med.unc.edu\/neurology\/divisions\/child-neurology-1\/patients\/epilepsy-neurogenetics\/research\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Research | Department of Neurology\" \/>\n<meta property=\"og:description\" content=\"Along with offering expert patient care, a key part of the UNC Epilepsy Neurogenetics Initiative (ENGI) is our translational research. 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