{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kim SY"],"funding":["Korea Centers for Disease Control and Prevention"],"pagination":["372"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9548182"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(1)"],"pubmed_abstract":["<h4>Background</h4>Phase I of the Korean Undiagnosed Diseases Program (KUDP), performed for 3 years, has been completed. The Phase I program aimed to solve the problem of undiagnosed patients throughout the country and develop infrastructure, including a data management system and functional core laboratory, for long-term translational research. Herein, we share the clinical experiences of the Phase I program and introduce the activities of the functional core laboratory and data management system.<h4>Results</h4>During the program (2018-2020), 458 patients were enrolled and classified into 3 groups according to the following criteria: (I) those with a specific clinical assessment which can be verified by direct testing (32 patients); (II) those with a disease group with genetic and phenot"],"journal":["Orphanet journal of rare diseases"],"pubmed_title":["The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure."],"pmcid":["PMC9548182"],"funding_grant_id":["2018-ER6901-02","2020-ER6903-01","2021-ER0701-00"],"pubmed_authors":["Lee S","Kim SY","Lee JE","Kook H","Kim KJ","Kim H","Park SS","Cho A","Ko JM","Ryu DS","Choi M","Kang KS","Kim YO","Cheon CK","Kim YJ","Lim BC","Kim WS","Choi JE","Park SG","Kim MJ","Sohn YB","Cha HJ","Shim Y","Jang SS","Woo H","Kwon S","Cho YG","Choi HJ","Hwang H","Seong MW","Choi SA","Lee YJ","Chae JH","Park S","Kim JS","Kee Y","Han J","Song MR","Kwon YS","Baek ST","Ko YJ","Moon J"],"additional_accession":[]},"is_claimable":false,"name":"The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.","description":"<h4>Background</h4>Phase I of the Korean Undiagnosed Diseases Program (KUDP), performed for 3 years, has been completed. The Phase I program aimed to solve the problem of undiagnosed patients throughout the country and develop infrastructure, including a data management system and functional core laboratory, for long-term translational research. Herein, we share the clinical experiences of the Phase I program and introduce the activities of the functional core laboratory and data management system.<h4>Results</h4>During the program (2018-2020), 458 patients were enrolled and classified into 3 groups according to the following criteria: (I) those with a specific clinical assessment which can be verified by direct testing (32 patients); (II) those with a disease group with genetic and phenot","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-04-08T18:18:49.791Z","creation":"2025-02-19T01:28:00.353Z"},"accession":"S-EPMC9548182","cross_references":{"pubmed":["36209187"],"doi":["10.1186/s13023-022-02520-5"]}}