Unlocking rare disease treatments for sick children

<Summary of the journal>
Seoul National University Children’s Hospital (SNUCH) has been playing a significant role in establishing a nationwide network for the precision diagnosis and treatment of rare pediatric diseases since the launch of the Korean Undiagnosed Disease Program (UDP) in 2017. The UDP, which includes a rapid genomic diagnosis platform, contributes to improving patients’ conditions by developing new diagnostic and treatment technologies. SNUCH, with its close link between clinical and research work, excels in addressing rare diseases, enabling the swift development and application of new diagnostic and treatment methods. Additionally, SNUCH is contributing to the discovery of genes and patho-mechanisms underlying rare diseases through research on personalized, gene-based therapies. These efforts are expected to play a crucial role in Korea’s genome project, slated to begin in 2024. Furthermore, SNUCH is facilitating international collaboration and data sharing by establishing a genome bank for rare disease genes, accessible to researchers worldwide.
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Building a genome bank (some excerpts from the interview by Chae)
“Before the national UDP, patients often endured long diagnostic journeys and received incorrect treatments,” says Chae. “Our efforts have significantly improved the diagnostic journey for rare disease patients.”

Further gains should come from increased collaboration and data sharing with local and international researchers to help uncover even more new genes and patho-mechanisms underlying rare conditions in children, Chae adds. The goal is to build a genome bank for rare diseases to assist in the discovery of new genetic diseases, she says. Importantly, it will be freely accessible to all researchers globally.

“The abundance of genomic data gathered from the Korean population is valuable for diagnosing rare diseases in other Asian populations, and we are actively working to expand our network regionally to include other regions within the Asia-Pacific,” Chae says.

SNUCH will host the tenth anniversary meeting of UDNI in Seoul in September 2024.