According to a story from Korea Biomedical Review, Seoul National University Hospital (SNUH) in South Korea has just announced recently that the process of recruiting patients for the National Bio Big Data project has officially begun with the registration of the first patient. The ultimate goal of this initiative is to help rare disease patients. The project aims to gather data from the clinic as well as genomic characteristics for patients in order to identify genetic causes on a case by case basis. From here, research can begin on how the disease can be treated.
Tackling Rare Disease in South Korea
The National Bio Big Data project is a national scale collaborative effort spearheaded by the country’s Ministry of Health and Welfare, which is working in concert with other government agencies, scholars, business leaders, patients, and the medical community. The center of activity for the project will be SNUH’s Rare Disease Center.
The first patient for the project was officially accepted on June 30th. The patient was a boy who displayed muscle problems that closely resembled the symptoms of Duchenne muscular dystrophy (DMD). However, the boy’s case has been a challenge; despite receiving multiple genetic tests, doctors haven’t been able to locate the mutation responsible for his disorder. This could mean that his symptoms are caused by a rare mutation or one that hasn’t been discovered yet.
Big Data Research
The leader of the SNUH Rare Disease Center, Chae Jong-hee, says that the challenges of diagnosing and treating rare disease mean that they are in need of extra support from the state. The situation for this first patient appears to be a perfect example of the obstacles that they can face.
“If we gather scattered valuable clinical and genetic information as big data, we can find treatment clues such as finding new causative genes.” – Chae Jong-hee
While the project hopes to include a large number of patients, it is not necessarily open to all rare disease patients. Only patients with a family history or genetic background with clear signs of possible disorder are to be accepted. Hopefully, the findings from the National Bio Big Data project will lead to real improvements in the lives of rare disease patients in South Korea.