Seoul National University Hospital’s Rare Disease Center said it has registered the first patient to begin the National Bio Big Data project.

The National Bio Big Data project collects clinical and genomic data of patients with rare diseases to identify the disease's cause and conduct research for treatment. The project involves the Ministry of Health and Welfare, related government agencies, the medical community, scholars, businesses, and patients.

Chae Jong-hee, head of the Rare Disease Center at the Seoul National University Hospital, explains the National Bio Big Data project. (SNUH)

Recruiting patients with rare diseases is crucial for the project. The more researchers gather data from patients under the right conditions, the easier it will be to identify the cause and develop treatments.

SNUH’s Rare Disease Center serves as a central support center for 16 institutions related to rare disease treatment across the nation. The Rare Disease Center oversees patient recruitment and selects patients who meet the conditions.

SNUH registered the first patient for the project on June 30. The male pediatric patient visited SNUH due to muscle abnormalities in 2017. He had difficulty walking or climbing stairs, and his clinical findings matched with Duchenne muscular disease (DMD).

By conventional genetic testing, physicians could not find the location of mutations that cause DMD.

The patient had a rare disease with strongly suspected genetic abnormality and genetic related background. Although he went through the first and second genetic testing in the existing system, he tested negative. This made him meet the conditions for the patient recruitment of the national project.

“After we heard that our participation in the project could help us join related clinical trials and contribute to developing treatments, we decided to participate,” the patient’s mother said. “I hope they could conduct the study well so that my child and other sick children can cure the disease.”

Chae Jong-hee, head of the SNUH’s Rare Disease Center, said it is difficult to diagnose a rare disease, and it takes a considerable time to pull off a successful treatment. Therefore, patients with rare diseases need state support absolutely, she said.

She went on to say that although the number of patients for each rare disease is small, the total number of patients with rare diseases is estimated to be 5 to 10 percent of the total population. “If we gather scattered valuable clinical and genetic information as big data, we can find treatment clues such as finding new causative genes,” she said.

Che hoped that rare disease patients and their families could benefit from the outcome of the government-led bio big data project.

Not all patients with rare diseases can register for the project. Only patients suspected with strong genetic abnormalities and genetic background can visit a hospital under the project and get examined by doctors. Specialists will make the final decision for patient registration for the project.

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