Our main scientific goal is to uncover the genetic mechanisms of human diseases using contemporary approaches such as single-cell sequencing, genome-wide library construction, and systems biology techniques applied to human, animal, and cell models.
Another central question we pursue is identifying the genetic origins of individual-level variation in human diseases. To address this, we study both common complex diseases and rare diseases.
Rare diseases
Complex structures and functions of the brain inevitably cause a diverse array of developmental problems, frequently giving rise to patients who suffer from various structural and functional defects.
To understand the pathogenesis, geneticists have adopted next-generation sequencing-based tools to identify and to test genetic variants that alter brain development. Still, accurately defining the genetic drivers of the disorders from a large pool of genetic variants and characterizing their functional effects remain as a bottleneck.
To overcome this, we have been pursuing following approaches:
- Discover variants and genes that cause rare neurodevelopmental defects in human
- Evaluate variant functions by functionally dissecting Rett syndrome genes in a high-throughput manner
- Analyze Rett syndrome animal models to
determine precise time and key tissues
during disease pathogenesis and to suggest
optimal drug treatment options
- Test functionality of noncoding variants in
the generation of Rett syndrome in human
- Elucidate cellular and genetic perturbation
in brain disorder models by lineage tracing
developing brain cells
References:
Lee et al. 2016 J Allergy Clin Immunol
Seo et al. 2017 J Allergy Clin Immunol
Seo et al. 2020 Ann Clin Transl Neurol
Park et al. 2022 Font Genet
Hong et al. 2022 J Med Genet
Choi et al. 2024 Neuron
Jeon et al. 2025 Sci Adv
Complex traits
Liver is involved in the metabolism,
synthesis, storage and redistribution
of vital macromolecules.
NAFLD is becoming a serious medical
and socioeconomic burden in modern
societies, but the genetic and clinical
heterogeneity of NAFLD poses significant
challenges in designing effective
treatment strategies.
Our main goal is to address
its complex pathogenesis and to discover
druggable targets for precision medicine.
- Perform bulk and single cell-level
expression quantitative trait loci (eQTL)
analyses to identify novel
variant-gene-phenotype axes leading to
NAFLD
- Construct a disease prediction model
based on hepatic gene expression profiles
- Establish efficient screening methods
to identify genes and variants that are
critical in NAFLD pathogenesis
References:
Yoo et al. 2021 J Hepatol
Sim et al. 2024 eLife
Hong et al. 2025 Nat Genet
Sim et al. 2025 Cancer Commun
