The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.

ABSTRACT:

Background

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.

Results

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

SUBMITTER: Kim SY 

PROVIDER: S-EPMC9548182 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature