To overcome childhood cancer and rare diseases...Seoul National University Hospital Holds Online Symposium
May 28, 2025
On the 26th, the Seoul National University Hospital Children's Cancer and Rare Disease Support Project Group (Director Choi Eun-hwa) held an online symposium on Lee Kun-hee's pediatric rare disease overcoming projects for medical staff at local children's hospitals, attended by medical staff from 12 children's hospitals nationwide.
The symposium was hosted by the Rare Disease Division of the Children's Cancer and Rare Disease Support Project to strengthen the nation's pediatric rare disease diagnosis network. It aims to increase access to diagnosis and treatment of rare diseases in children in cooperation with local children's hospitals so that patients and their families can be diagnosed anywhere in the country.
Rare diseases take an average of more than six years to diagnose due to complex symptoms, and in the case of pediatric patients, symptoms may change, making diagnosis more difficult.
In order to diagnose rare diseases that cannot be diagnosed by general tests, the rare disease business department has been pushing for a project to overcome rare diseases in children since 2021 with donations from the late chairman Lee Kun-hee. Currently, 2039 children and 3959 families have been supported by the latest diagnostic tests, including genomic tests, and 32% (630) children have been diagnosed with various rare diseases so far. In particular, 25 hospitals across the country are working together to receive help outside the metropolitan area.
At this symposium, a lecture by medical staff at Seoul National University Hospital was held to share the latest diagnostic techniques for rare diseases in children. ▲ Participation of partner organizations for diagnosis of rare diseases and guidance on the diagnosis process (Lee Jin-sook, Department of Rare Diseases) ▲ Genetic test for diagnosis of rare diseases (clinical genomics medicine department Kim Man-jin) ▲ NGS test interpretation and need for additional tests (child adolescents and Ko Jung-min) ▲ We shared practical knowledge and experience necessary to diagnose rare diseases such as principles and examples (clinical genomics medicine department Kim Soo-yeon), and medical staff across the country sought to establish a cooperative model with the network.
"The ultimate goal of this project is to build a system that can benefit from testing through the latest diagnostic techniques anywhere in the country through donations," said Chae Jong-hee, head of the rare disease business department (Professor of Clinical Genomics and Pediatrics). "I hope this symposium will serve as an opportunity to establish a more efficient mutual cooperation network with local children's hospital medical staff and to eliminate diagnostic blind spots for rare diseases."
The symposium was hosted by the Rare Disease Division of the Children's Cancer and Rare Disease Support Project to strengthen the nation's pediatric rare disease diagnosis network. It aims to increase access to diagnosis and treatment of rare diseases in children in cooperation with local children's hospitals so that patients and their families can be diagnosed anywhere in the country.
Rare diseases take an average of more than six years to diagnose due to complex symptoms, and in the case of pediatric patients, symptoms may change, making diagnosis more difficult.
In order to diagnose rare diseases that cannot be diagnosed by general tests, the rare disease business department has been pushing for a project to overcome rare diseases in children since 2021 with donations from the late chairman Lee Kun-hee. Currently, 2039 children and 3959 families have been supported by the latest diagnostic tests, including genomic tests, and 32% (630) children have been diagnosed with various rare diseases so far. In particular, 25 hospitals across the country are working together to receive help outside the metropolitan area.
At this symposium, a lecture by medical staff at Seoul National University Hospital was held to share the latest diagnostic techniques for rare diseases in children. ▲ Participation of partner organizations for diagnosis of rare diseases and guidance on the diagnosis process (Lee Jin-sook, Department of Rare Diseases) ▲ Genetic test for diagnosis of rare diseases (clinical genomics medicine department Kim Man-jin) ▲ NGS test interpretation and need for additional tests (child adolescents and Ko Jung-min) ▲ We shared practical knowledge and experience necessary to diagnose rare diseases such as principles and examples (clinical genomics medicine department Kim Soo-yeon), and medical staff across the country sought to establish a cooperative model with the network.
"The ultimate goal of this project is to build a system that can benefit from testing through the latest diagnostic techniques anywhere in the country through donations," said Chae Jong-hee, head of the rare disease business department (Professor of Clinical Genomics and Pediatrics). "I hope this symposium will serve as an opportunity to establish a more efficient mutual cooperation network with local children's hospital medical staff and to eliminate diagnostic blind spots for rare diseases."
|
This article was translated by Naver AI translator.
