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Research initiative funded by Samsung family donation aims to transform approach to rare diseases in Korea

Published: 10 Jun. 2025, 12:40 Updated: 10 Jun. 2025, 17:33

The eighth workshop on rare disease diagnosis and genomic research supported by the Lee Kun-hee Child Cancer & Rare Disease Project is held on June 5 at Lee Kun-hee Hall in the Seoul National University Cancer Research Institute. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

An ambitious research initiative is reshaping how Korea approaches rare disease diagnosis and treatment.

Some 80 scientists, clinicians and students gathered at Lee Kun-hee Hall in the Seoul National University Cancer Research Institute last week to share updates and plans for a project that supports genomic and functional research on rare diseases.

The project is part of the broader Lee Kun-hee Child Cancer & Rare Disease Project, funded by a 300 billion won ($221 million) donation from the family of the late Samsung Chairman Lee Kun-hee in 2021.

“This is the most ideal form of research I’ve seen — something that would have been hard to imagine in the past,” said Baek Seung-tae, professor of life sciences at Postech, who is involved in the project.

First launched in October 2022, the workshop has been held two to three times annually, marking its eighth edition this month. It has become a central forum for interdisciplinary collaboration, drawing participants from hospitals and research institutes nationwide to discuss how genome and functional studies can unravel the causes of undiagnosed rare diseases.

Accurately identifying these diseases often starts with whole exome sequencing (WES) to pinpoint suspected gene mutations.

To determine whether these mutations are disease-causing, researchers must conduct functional studies. These involve introducing human mutations into animal models like zebrafish, mice, chickens or fruit flies, or into artificial cell systems to observe whether disease-like symptoms emerge.

During the Thursday workshop, researchers presented their findings on how certain gene mutations observed in real patients produced disease-like traits in model organisms. Several speakers noted that such integrated research was nearly impossible just a few years ago. While basic researchers had long studied gene mutations and stem cells, they rarely collaborated closely with clinical doctors or had access to real patient data.

That changed with the launch of the Lee Kun-hee initiative in 2021. The program now includes 25 participating hospitals nationwide. As of last month, 6,067 patients and family members have undergone WES testing through the project.

Song Mi-ryoung, professor of life sciences at Gwangju Institute of Science and Technology, attends the eighth workshop on rare disease diagnosis and genomic research supported by the Lee Kun-hee Child Cancer & Rare Disease Project on June 5. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Song Mi-ryoung, professor of life sciences at Gwangju Institute of Science and Technology, is using this data to study gene mutations at a cellular level.

“Clinical data related to patients is extremely valuable but hard to obtain for basic scientists,” she said. “Sharing that data from clinical settings significantly boosts our research.”

Song also emphasized the importance of building a centralized patient data database.

“It’s very difficult for individual researchers to do this alone,” she added. “Thanks to the Lee Kun-hee donation, we’ve made this possible, which has deepened and systematized rare disease research.”

Baek Seung-tae, professor of life sciences at Postech, attends the eighth workshop on rare disease diagnosis and genomic research supported by the Lee Kun-hee Child Cancer & Rare Disease Project on June 5. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Sun Woong, professor at Korea University College of Medicine, attends the eighth workshop on rare disease diagnosis and genomic research supported by the Lee Kun-hee Child Cancer & Rare Disease Project on June 5. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Prof. Baek noted that the collaboration model — where scientists from various fields work toward the unified goal of diagnosing and treating rare diseases — is still rare in other projects.

“It’s especially meaningful for student researchers to participate in these workshops,” he said. “They realize their lab work is directly connected to helping real patients.”

One of the project’s strengths is its flexibility. Unlike typical government research initiatives that focus on rigid deliverables, this platform can quickly incorporate new technologies and evolving research ideas.

Sun Woong, professor at Korea University College of Medicine, likened the project to an orchestra.

“Rare disease research is incredibly complex and time-consuming, and cannot be done alone,” he said. “You need a large, collaborative structure to make meaningful progress.”

The workshop also touched on potential treatment developments.

Bae Sang-su, professor of molecular genome engineering at Seoul National University College of Medicine, attends the eighth workshop on rare disease diagnosis and genomic research supported by the Lee Kun-hee Child Cancer & Rare Disease Project on June 5. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Bae Sang-su, professor of molecular genome engineering at Seoul National University College of Medicine, recently joined the team to explore gene-editing therapies.

“Government-supported research often hesitates to take risks, and so the emphasis is on completing set tasks,” he said. “The Lee Kun-hee project allows us to reimagine research ideas creatively and pursue them flexibly and boldly.”

Chae Jong-hee, head of the rare disease division of the project and professor of clinical genomics at Seoul National University Hospital, expressed hope for the future.

“We aim to expand our collaboration beyond diagnosis to drug development and to train the next generation of researchers in the field,” she said.

Translated from the JoongAng Ilbo using generative AI and edited by Korea JoongAng Daily staff.
BY NAM SOO-HYOUN [[email protected]]