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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 on human, animal and cell models.

Rare neurologic disorders

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




Lee et al. 2016 J Allergy Clin Immunol

Seo et al. 2017 J Allergy Clin Immunol

Yoo et al. 2017 Ann Neurol

Lee et al. 2020 Sci Reports

Seo et al. 2020 Ann Clin Transl Neurol

Lee et al. 2021 Blood




Non-alcoholic fatty liver disease (NAFLD)


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


- 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



Yoo et al. 2021 J Hepatol

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