RESEARCH

#SCIENCE IN HUMAN GENOME

Our laboratory’s main scientific goal is to understand molecular mechanism of various human diseases. In doing so, we aim to unravel novel biological mechanism of genes and also identify clues to benefit patient treatment strategy. In pursuing the goals, we use various human genetics, molecular biology and model animal systems for efficient functional validations.

Rare Mendelian diseases poses substantial threat and burden to the patients, families and society. Yet the relative shortage of scientific and clinical interest has left many of the patients undiagnosed and untreated. We think that understanding rare diseases mechanism has provided opportunities to unravel important biological mechanisms and sometimes offers clues to further interrogate common diseases of similar disease spectrum.

Using next-generation sequencing technique, it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this technique, whole exome sequencing (WES) was first developed in 2009, and proved itself as a powerful tool to discover disease-associated genomic variants from human patients (Choi et al., 2009; Ng et al., 2009). Using WES and whole genome sequencing (WGS) as main tools, we aim to study a variety of human diseases to understand their genetic mechanisms. After the first successful NGS-based molecular diagnosis of a patient, we conduct genetic analyses of patients of various symptoms. Currently, we focus on two major patient groups – patients of neurodevelopmental disorders and immune-compromised symptoms.

The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception – it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this technique, whole exome sequencing (WES) was first developed in 2009, and proved itself as a powerful tool to discover disease-associated genomic variants from human patients (Choi et al., 2009; Ng et al., 2009). Using WES as a main tool, we aim to study a variety of human diseases to understand their genetic mechanisms.

GENETIC DIAGNOSIS OF A PATIENTS

A patient was referred with severe dehydration, hypokalemia and alkalosis which are typical symptoms of Bartter syndrome. However, WES identified a mutation associated with chloride-losing diarrhea and the patient was confirmed of our genetic diagnosis. This is known to be the first genetic diagnosis using next-generation sequencing technology (Choi et al., 2009).
 
 
 

DISCOVERY OF MUTATIONS FROM A SMALL FAMILY

Gaucher disease and lymphoma from consanguineous union were analyzed on WES and mutations responsible for each of the diseases were identified (Lo*, Choi* et al., 2012).
 

DISCOVERY OF GENE(S) RESPONSIBLE FOR RARE DISEASE

A group of unrelated pseudohypoaldosteronism type II patients were analyzed and two genes that explain about 80% of the patient cohort were discovered (Boyden et al., 2012).

DISCOVERY OF SOMATIC MUTATIONS THAT CAUSE TUMORS

WES is also an ideal tool for genetic study of tumors. For example, a gene responsible for about 30% of a rare tumor called aldosterone-producing adenoma was found (Choi et al., 2011) and mutation profile of uterine serous carcinoma was studied and a number of novel genes were identified (Zhao et al., 2013).

NAVIGATION

LOCATION

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

NEWS

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!

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EVENTS

Apr 15, 2018

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

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