The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project

被引：2

作者：

Kim, Man Jin ^{[1
]}

Kim, Boram ^{[2
]}

Lee, Heerah ^{[2
]}

Lee, Jee-Soo ^{[2
]}

Chae, Seung Won ^{[2
,3
]}

Shin, Ho Seob ^{[2
]}

Cho, Sung Im ^{[2
]}

Kim, Soo Yeon ^{[4
]}

Moon, Jangsup ^{[1
]}

Lim, Byung Chan ^{[4
]}

Ko, Jung Min ^{[4
]}

Chae, Jong-Hee ^{[1
,4
]}

Park, Sung Sup ^{[2
]}

Seong, Moon-Woo ^{[2
]}

机构：

[1] Seoul Natl Univ Hosp, Dept Genom Med, Seoul, South Korea

[2] Seoul Natl Univ, Seoul Natl Univ Hosp, Dept Lab Med, Coll Med, Seoul, South Korea

[3] Seoul Natl Univ, Canc Res Inst, Coll Med, Seoul, South Korea

[4] Seoul Natl Univ, Seoul Natl Univ Hosp, Dept Pediat, Coll Med, Seoul, South Korea

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷 / 10期

关键词：

GUIDELINES;

D O I：

10.1038/s41431-023-01415-8

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The Korean Genetic Diagnosis Program for Rare Disease (KGDP) enrolled 1890 patients with rare diseases between March 2017 and October 2022. Children and adolescents accounted for the majority of the patients, and systemic disease was the most common presenting symptom. The exome-based virtual disease-specific multigene panel was the most frequently used analytical method, with an overall diagnostic yield of 33.3%. A total of 629 positive cases were diagnosed, involving 297 genes. All 297 genes identified in these cases were confirmed to be known genes listed in the OMIM database. The nationwide KGDP network and its cooperation with the Korean Undiagnosed Diseases Program (KUDP) provide a more comprehensive genetic analysis of undiagnosed cases. The partnership between the KGDP and KUDP has the potential to improve the diagnosis and treatment options for patients. In conclusion, KGDP serves as the primary access point or gateway to KUDP.

引用

页码：1147 / 1153

页数：7

共 50 条

[1] The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
Man Jin Kim
Boram Kim
Heerah Lee
Jee-Soo Lee
Seung Won Chae
Ho Seob Shin
Sung Im Cho
Soo Yeon Kim
Jangsup Moon
Byung Chan Lim
Jung Min Ko
Jong-Hee Chae
Sung Sup Park
Moon-Woo Seong
European Journal of Human Genetics, 2023, 31 : 1147 - 1153
[2] MEDICATION CONTRACT VIOLATIONS: 6-YEAR OUTCOMES IN A PRIMARY CARE CHRONIC PAIN PROGRAM
Chelminski, P.
Hayes, K.
Ives, T. J.
JOURNAL OF GENERAL INTERNAL MEDICINE, 2009, 24 : 121 - 122
[3] FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Beaulieu, Chandree L.
Majewski, Jacek
Schwartzentruber, Jeremy
Samuels, Mark E.
Femandez, Bridget A.
Bernier, Francois P.
Brudno, Michael
Knoppers, Bartha
Marcadier, Janet
Dyment, David
Adam, Shelin
Bulman, Dennis E.
Jones, Steve J. M.
Avard, Denise
Minh Thu Nguyen
Rousseau, Francois
Marshall, Christian
Wintle, Richard F.
Shen, Yaoqing
Scherer, Stephen W.
Friedman, Jan M.
Michaud, Jacques L.
Boycott, Kym M.
AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (06) : 809 - 817
[4] Do Management Strategies for Coronary Artery Disease Influence 6-Year Cognitive Outcomes?
Selnes, Ola A.
Grega, Maura A.
Bailey, Maryanne M.
Pham, Luu D.
Zeger, Scott L.
Baumgartner, William A.
McKhann, Guy M.
ANNALS OF THORACIC SURGERY, 2009, 88 (02): : 445 - U132
[5] Buschke-Ollendorff syndrome in a 6-year old patient: clinical and histopathological aspects of a rare disease
Diotallevi, Federico
Simonetti, Oriana
Radi, Giulia
Martina, Emanuela
Paolinelli, Matteo
Sapigni, Claudia
Guanciarossa, Francesca
Bianchelli, Tommaso
Brancorsini, Donatella
Offidani, Annamaria
ACTA DERMATOVENEROLOGICA ALPINA PANNONICA ET ADRIATICA, 2020, 29 (01): : 31 - 33
[6] STEPS-T Program Improves Endovascular Treatment Outcomes of Acute Ischemic Stroke; A 6-Year Study
Hassan, Ameer E.
Rabah, Rani R.
Preston, Laurie
Tekle, Wondwossen G.
FRONTIERS IN NEUROLOGY, 2020, 10
[7] Recruitment, outcomes and toxicity trends in phase I oncology trials: 6-year experience in a large institution
Menon, Siddharth
Davies, Amy
Frentzas, Sophia
Hawkins, Chery-Ann
Segelov, Eva
Day, Daphne
Markman, Ben
ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, 2020, 16 : 154 - 154
[8] Genetic Association of Short Sleep Duration With Hypertension Incidence - A 6-Year Follow-up in the Korean Genome and Epidemiology Study -
Kim, Se Joong
Lee, Seung Ku
Kim, Seong Hwan
Yun, Chang-Ho
Kim, Je Hyeong
Thomas, Robert J.
Shin, Chol
CIRCULATION JOURNAL, 2012, 76 (04) : 907 - 913
[9] The 6-year clinical outcomes for patients registered in a multiregional United States Kidney Paired Donation program - a retrospective study
Stepkowski, Stanislaw M.
Mierzejewska, Beata
Fumo, David
Bekbolsynov, Dulat
Khuder, Sadik
Baum, Caitlin E.
Brunner, Robert J.
Kopke, Jonathan E.
Rees, Susan E.
Smith, Connie
Ashlagi, Itai
Roth, Alvin E.
Rees, Michael A.
TRANSPLANT INTERNATIONAL, 2019, 32 (08) : 839 - 853
[10] Pediatric Tuberculosis Disease during Years of High Refugee Arrivals: A 6-Year National Prospective Surveillance Study
Fritschi, Nora
Schmidt, Axel J.
Hammer, Jurg
Ritz, Nicole
RESPIRATION, 2021, 100 (11) : 1050 - 1059

← 1 2 3 4 5 →