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The Korean undiagnosed diseases program: lessons from a one-year pilot project
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Soo Yeon | - |
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Lee, Jin Sook | - |
dc.contributor.author | Kim, Woo Joong | - |
dc.contributor.author | Kim, Hyuna | - |
dc.contributor.author | Ko, Jung Min | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Choi, Sun Ah | - |
dc.contributor.author | Kim, Hunmin | - |
dc.contributor.author | Hwang, Hee | - |
dc.contributor.author | Choi, Ji Eun | - |
dc.contributor.author | Cho, Anna | - |
dc.contributor.author | Moon, Jangsup | - |
dc.contributor.author | Seong, Moon Woo | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Lee, Yun Jeong | - |
dc.contributor.author | Kim, Young Ok | - |
dc.contributor.author | Kim, Jon Soo | - |
dc.contributor.author | Kim, Won Seop | - |
dc.contributor.author | Kwon, Young Se | - |
dc.contributor.author | Park, June Dong | - |
dc.contributor.author | Ahn, Younjhin | - |
dc.contributor.author | Hwang, Joo-Yeon | - |
dc.contributor.author | Park, Hyun-Young | - |
dc.contributor.author | Lee, Youngha | - |
dc.contributor.author | Choi, Murim | - |
dc.contributor.author | Chae, Jong-Hee | - |
dc.date.accessioned | 2019-03-25T04:50:51Z | - |
dc.date.available | 2019-03-25T13:53:18Z | - |
dc.date.issued | 2019-03-20 | - |
dc.identifier.citation | Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68 | ko_KR |
dc.identifier.issn | 1750-1172 | - |
dc.identifier.uri | https://hdl.handle.net/10371/147214 | - |
dc.description.abstract | Background
The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this paper is to summarize the project results and emphasize the unmet research needs among patients with undiagnosed rare diseases in Korea. Results Patient enrollment, assessment, and diagnostic processes were determined by the KUDP clinical expert consortium. Patients followed a diagnostic workflow after being categorized into one of four groups: I) insufficient clinical information or lack of standard diagnostic processes; II) undiagnosed due to low disease awareness; III) clinically diagnosed but unconfirmed genetically due to genetic heterogeneities; or IV) unknown disease due to complex, atypical clinical presentations. After excluding two patients from group I, 97 patients were enrolled, including 10 in group II, 67 in group III, and 20 in group IV. Most of them (92 of 97, 94.8%) were pediatric patients (< 18 years old) and 59 (60.8%) were male. The primary symptoms for 80 patients (82.5%) were neurologic. During the one-year pilot study, 72 patients completed a diagnostic assessment including clinical and molecular genetic analyses; some patients also underwent pathological or biochemical analysis. Twenty-eight of these patients (28/72, 38.9%) achieved molecular genetic diagnosis. Thirteen patients were diagnosed based on traditional tests, including biochemical assay, single or targeted genetic analysis, and chromosomal microarray. We performed whole exome sequencing on 52 patients, among whom 15 (28.8%, 15/52) reached a final diagnosis. One new disorder was identified via international collaboration. Conclusions Using an efficient clinical diagnostic workflow, this KUDP pilot study resulted in a fair diagnostic success rate, improving the potential for additional diagnoses and new scientific discovery of complex and rare diseases. KUDP also satisfied unmet needs for rare diseases with multisystem involvement, highlighting the value of emerging genomic technologies for further research into rare and still-undiagnosed conditions. | ko_KR |
dc.description.sponsorship | This study was supported by the Research Program funded by the Korea Centers for Disease Control and Prevention (Grant No. 2018ER690101). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BioMed Central | ko_KR |
dc.subject | Rare disease | ko_KR |
dc.subject | Undiagnosed disease program | ko_KR |
dc.subject | Korea | ko_KR |
dc.subject | Whole exome sequencing | ko_KR |
dc.title | The Korean undiagnosed diseases program: lessons from a one-year pilot project | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 김수연 | - |
dc.contributor.AlternativeAuthor | 임병찬 | - |
dc.contributor.AlternativeAuthor | 이진숙 | - |
dc.contributor.AlternativeAuthor | 김우중 | - |
dc.contributor.AlternativeAuthor | 김현아 | - |
dc.contributor.AlternativeAuthor | 고정민 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.contributor.AlternativeAuthor | 최선아 | - |
dc.contributor.AlternativeAuthor | 김훈민 | - |
dc.contributor.AlternativeAuthor | 황희 | - |
dc.contributor.AlternativeAuthor | 최지은 | - |
dc.contributor.AlternativeAuthor | 조안나 | - |
dc.contributor.AlternativeAuthor | 문장섭 | - |
dc.contributor.AlternativeAuthor | 성문우 | - |
dc.contributor.AlternativeAuthor | 박성섭 | - |
dc.contributor.AlternativeAuthor | 이연정 | - |
dc.contributor.AlternativeAuthor | 김영옥 | - |
dc.contributor.AlternativeAuthor | 김전수 | - |
dc.contributor.AlternativeAuthor | 김원섭 | - |
dc.contributor.AlternativeAuthor | 권영세 | - |
dc.contributor.AlternativeAuthor | 박준동 | - |
dc.contributor.AlternativeAuthor | 안연진 | - |
dc.contributor.AlternativeAuthor | 황주연 | - |
dc.contributor.AlternativeAuthor | 박현영 | - |
dc.contributor.AlternativeAuthor | 이영하 | - |
dc.contributor.AlternativeAuthor | 최무림 | - |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.identifier.doi | 10.1186/s13023-019-1041-5 | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s). | - |
dc.date.updated | 2019-03-24T04:20:53Z | - |
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