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

 

 

References:

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

 

 

 

 

 

 

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

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

 

Reference:

Yoo et al. under revision

NAVIGATION

LOCATION

NEWS

Aug 30, 2020

Congratulations to Young Ha for his Ph.D. graduation!

방문자의 관심을 끌 수 있는 설명 및 내용을 입력하세요.    

Sep 30, 2019

Congrats to Jaeso to Korea-Swiss exchange student program fellowship by NRF!

Aug 31, 2019

Congratulations to Jeongha for getting the Global Ph.D. fellowship from NRF!

Aug 29, 2019

Congratulations to Jana for her Ph.D. graduation!

Aug 30, 2018

Congratulations to Yongjin for his Ph.D. graduation!

Feb 27, 2018

Congratulations to Sangmoon for his Ph.D. graduation!

Please reload

Seoul National University Graduate School, Biomedical Science Building 107, 103 Daehakro, Jongro-gu, Seoul 03080, Korea.

EVENTS

Apr 15, 2018

Hiking trip to the Bukhansan National Park in Seoul, Korea. (April 2018)

Please reload