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KMID : 1143420180110020034
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Public Health Weekly Report
2018 Volume.11 No. 2 p.34 ~ p.38
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Clinical research networks for rare diseases
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Kim Hyung-Woo
Park So-Yeon
Ahn Youn-Jhin
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Abstract
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Most patients with rare diseases receive a delayed diagnosis and experience difficulty in treatment. Even the number of patients with rare diseases is difficult to assess precisely because there is no widely-accepted definition for rare diseases. In 2017, the KCDC started running four rare diseases clinical research networks for five different diseases (amyloidosis, Crohn’s disease, histiocytosis, multiple sclerosis, and neuromyelitis optica). Researchers have collected clinical and human specimen data through the clinical research networks and have tried to figure out the characteristics of rare diseases. These clinical research networks are expected to improve early diagnosis and to provide the basis for translational research on rare diseases based on the strength of new technologies like next generation sequencing (NGS).
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KEYWORD
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Rare diseases, Clinical research network, Diagnosis, Amyloidosis, Crohn’s disease
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