Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.
Asia-Pacific
Deep Phenotyping
Disease Registries
Inherited Retinal Diseases
Ophthalmic Genetics
Journal
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
ISSN: 2162-0989
Titre abrégé: Asia Pac J Ophthalmol (Phila)
Pays: United States
ID NLM: 101583622
Informations de publication
Date de publication:
01 Dec 2023
01 Dec 2023
Historique:
received:
29
09
2023
revised:
16
11
2023
accepted:
21
11
2023
medline:
18
1
2024
pubmed:
18
1
2024
entrez:
17
1
2024
Statut:
aheadofprint
Résumé
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. Multi-national, multi-center collaborative network. 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. 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. 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.
Identifiants
pubmed: 38233300
pii: S2162-0989(23)00030-0
doi: 10.1016/j.apjo.2023.100030
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
100030Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors have no conflicts of interest to disclose.