"New Path to Overcoming Undiagnosed Rare Diseases? Seoul National University Research Team Proposes Causative Factors"

Joint Participation of US Cancer Centers and International Research Teams

A research team at Seoul National University College of Pharmacy has succeeded in identifying the cause of undiagnosed rare diseases. It is expected that a new path will open to resolve the uncertainties of rare diseases and establish treatment strategies.

On the 14th, Professor Park Sung-kyu's team at Seoul National University College of Pharmacy announced that they had identified that undiagnosed rare diseases are caused by mutations occurring at specific locations in the 'WDR44' gene.

Undiagnosed diseases refer to conditions for which medical professionals have been unable to confirm a diagnosis or determine the cause of the disease with current knowledge despite their efforts. Until now, it has been difficult to establish treatment strategies for similar symptoms or mutations due to the unknown causes.

This study was conducted by an international collaborative research team (from Korea, the United States, Canada, Italy, and five other countries) led by Dr. Westlake of the National Cancer Center (NCC) in the United States. While most patients in Korea are single cases, making diagnosis difficult, the international collaboration allowed the examination of a larger number of patients with similar symptoms, which contributed to the success of the study.

Seoul National University
Photo by Asia Economy DB

The research team also revealed the mechanism by which genetic mutations cause structural problems in the WDR44 protein, leading to impaired cilia development in cells, and that specific mutations in WDR44 cause genetic ciliopathies.

A representative from Seoul National University stated, "This study has proven that international collaboration and information exchange are essential and very important in researching ultra-rare diseases. Through this, new diseases can be discovered and patients diagnosed, and the various knowledge revealed through research can serve as a foundation for establishing future treatment strategies for patients."

Meanwhile, in Korea, the Pediatric Cancer and Rare Disease Overcoming Project Group was launched in May 2021 through a donation from the late Lee Kun-hee, former chairman of Samsung Group. This study was led by the Rare Disease Division (Division Head Professor Chae Jong-hee, Seoul National University College of Medicine, Seoul National University Children’s Hospital). Some research support was also provided by the Bio-Medical Technology Development Project (Future Infectious Disease Response Project) of the National Research Foundation of Korea.

This content was produced with the assistance of AI translation services.