TY - JOUR
T1 - Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases
AU - Wong, Wendy M.
AU - Tham, Yih Chung
AU - Simunovic, Matthew P.
AU - Chen, Fred Kuanfu
AU - Luu, Chi D.
AU - Chen, Haoyu
AU - Jin, Zi Bing
AU - Shen, Ren Juan
AU - Li, Shiying
AU - Sui, Ruifang
AU - Zhao, Chen
AU - Yang, Liping
AU - Bhende, Muna
AU - Raman, Rajiv
AU - Sen, Parveen
AU - Ghosh, Arkasubhra
AU - Poornachandra, B.
AU - Sasongko, Muhammad Bayu
AU - Arianti, Alia
AU - Chia, Valen
AU - Mangunsong, Cosmos O.
AU - Manurung, Florence
AU - Fujinami, Kaoru
AU - Ikeda, Hanako
AU - Woo, Se Joon
AU - Kim, Sang Jin
AU - Mohd Khialdin, Safinaz
AU - Othman, Othmaliza
AU - Bastion, Mae Lynn Catherine
AU - Kamalden, Ain Tengku
AU - Lott, Pooi Wah Penny
AU - Fong, Kenneth
AU - Shunmugam, Manoharan
AU - Lim, Amelia
AU - Thapa, Raba
AU - Pradhan, Eli
AU - Rajkarnikar, Sthapit Purnima
AU - Adhikari, Srijana
AU - Ibañez, B. Manuel Benjamin IV
AU - Koh, Adrian
AU - Chan, Choi Mun M.
AU - Fenner, Beau J.
AU - Tan, Tien En
AU - Laude, Augustinus
AU - Ngo, Wei Kiong
AU - Holder, Graham E.
AU - Su, Xinyi
AU - Chen, Ta Ching
AU - Wang, Nan Kai
AU - Kang, Eugene Yu Chuan
AU - Huang, Chu Hsuan
AU - Surawatsatien, Nuntachai
AU - Pisuchpen, Phattrawan
AU - Sujirakul, Tharikarn
AU - Kumaramanickavel, Govindasamy
AU - Singh, Mandeep
AU - Leroy, Bart
AU - Michaelides, Michel
AU - Cheng, Ching Yu
AU - Chen, Li Jia
AU - Chan, Hwei Wuen
N1 - Publisher Copyright:
© 2023 The Authors
PY - 2024/1/1
Y1 - 2024/1/1
N2 - Purpose: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. Design: Multi-national, multi-center collaborative network. Methods: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. Results: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. Conclusions: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.
AB - Purpose: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. Design: Multi-national, multi-center collaborative network. Methods: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. Results: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. Conclusions: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.
KW - Asia-Pacific
KW - Deep Phenotyping
KW - Disease Registries
KW - Inherited Retinal Diseases
KW - Ophthalmic Genetics
UR - https://www.scopus.com/pages/publications/85184697742
U2 - 10.1016/j.apjo.2023.100030
DO - 10.1016/j.apjo.2023.100030
M3 - Article
C2 - 38233300
AN - SCOPUS:85184697742
SN - 2162-0989
VL - 13
JO - Asia-Pacific Journal of Ophthalmology
JF - Asia-Pacific Journal of Ophthalmology
IS - 1
M1 - 100030
ER -