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The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery.
Journal of Clinical Immunology ( IF 9.1 ) Pub Date : 2020-06-01 , DOI: 10.1007/s10875-020-00787-6
Tri Giang Phan 1, 2 , Paul E Gray 3, 4 , Melanie Wong 5, 6 , Rebecca Macintosh 4, 7 , Leslie Burnett 2, 6, 8 , Stuart G Tangye 1, 2 ,
Affiliation  

The Clinical Immunogenomics Research Consortium Australasia (CIRCA) crowdsources expertise in medicine, genomics, data science, and fundamental biology to diagnose and treat patients with rare inborn errors of immunity. This distributed network model operates free of geographic borders and allows rapid progression through the full research/translation/clinical management pipeline, from initial gene variant discovery, through functional validation, and on to precision mechanism-based treatment of patients throughout Australia and New Zealand. The model is scalable and applicable to other rare diseases where clinical experience and scientific know-how are limited, and enables efficient delivery of genomics for all.



中文翻译:

澳大利亚临床免疫基因组学研究联盟 (CIRCA):一种用于基因组医疗服务的分布式网络模型。

澳大利亚临床免疫基因组学研究联盟 (CIRCA) 众包医学、基因组学、数据科学和基础生物学方面的专业知识,以诊断和治疗患有罕见先天性免疫缺陷的患者。这种分布式网络模型不受地理边界的限制,允许通过完整的研究/翻译/临床管理管道快速进展,从最初的基因变异发现,到功能验证,再到澳大利亚和新西兰各地患者的基于精确机制的治疗。该模型具有可扩展性,适用于临床经验和科学知识有限的其他罕见疾病,并能够有效地为所有人提供基因组学。

更新日期:2020-06-01
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