Seo-Kyung Chung

Seo-Kyung Chung is an Associate Professor in the Faculty of Medicine and Health at the University of Sydney, a position she has held since April 2019. She obtained her PhD and BSc (Hons) from the University of Sydney. Chung's research centers on the genetics of epilepsy and neurodevelopmental disorders, including the study of mutations in genes associated with GABAergic and glycinergic systems, such as SLC6A1, SLC6A11, GAD1, GAD2, SLC2A1, TUBA1A, and TRMT1. She investigates genetic variants in conditions like hyperekplexia, Dravet syndrome, and epileptic encephalopathies using techniques such as next-generation sequencing, in silico platforms, and in vitro functional studies. Chung leads the Translational Neurogenomics Laboratory in the School of Medical Sciences and is affiliated with Kids Research at the Children's Hospital at Westmead and the Brain and Mind Centre.

Prior to her current appointment, she was a Lecturer at Swansea University College of Medicine from May 2011 to April 2019 and a Researcher at the University of Auckland Centre for Brain Research from December 2012 to March 2013. In 2021, Associate Professor Chung received a $586,000 NHMRC Ideas Grant for her project "Characterisation of novel genetic variants in Hyperekplexia and Dravet Syndrome: Identifying the Unknown Knowns." Her key publications include "Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease" (Nature Genetics, 2006), "De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies" (The American Journal of Human Genetics, 2016), "Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia" (Journal of Neuroscience, 2010), "A cross-disorder dosage sensitivity map of the human genome" (Cell, 2022), and "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture" (Nature Genetics, 2023).

Professional Email: seokyung.chung@sydney.edu.au