Korea University · Biochemistry, Genetics and Molecular Biology
Professor Joon-Yong An's research lab focuses on the genetic architecture of neurodevelopmental and psychiatric disorders, particularly autism spectrum disorder (ASD), using advanced genomic technologies such as whole-genome and whole-exome sequencing. The lab investigates the role of de novo and inherited noncoding and coding variants, including short tandem repeat (STR) expansions and loss-of-function mutations, in disease susceptibility. A key focus is integrating functional genomics with statistical modeling to identify risk genes and regulatory networks—such as the AXAS gene network—implicated in ASD, schizophrenia, and related conditions. The lab also explores the biological relevance of cellular processes like ferroptosis in neurodevelopment and neurological disease.
Figures are computed from collected data and may differ slightly.
Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated wit
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Recently developed genomic technologies, including microarray and next-generation sequencing (NGS), have enabled researchers to genetic analyses aimed at identifying genetic variations associated with ASD and to elucidate the genetic architecture of the disorder. Large-scale microarray, exome sequencing analyses, and robust statistical methods have resulted in successful gene discovery and identifica
The hypothetical 'AXAS' gene network model that profiles functional patterns of heterogeneous DNA variants overrepresented in autism spectrum disorder (ASD), X-linked intellectual disability, attention deficit and hyperactivity disorder and schizophrenia was used in this current study to analyze whole exome sequencing data from an Australian ASD cohort. An optimized DNA variant filtering pipeline was used to identify loss-of-function DNA variations. Inherited variants from parents with a broader
Ferroptosis, first introduced as a new form of regulated cell death induced by erastin, is accompanied by the accumulation of iron and lipid peroxides, thus it can be inhibited either by iron chelators or by lipophilic antioxidants. In the past decade, multiple studies have introduced the potential importance of ferroptosis in many human diseases, including cancer and neurodegenerative diseases. In this review, we will discuss the genetic association of ferroptosis with neurological disorders an
Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in
Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.
Genomic sequencing holds great promise in elucidating the genetic causes of strabismus; further research with larger cohorts or other related approaches are warranted.
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