中国新生儿基因组计划：迈向遗传病治疗的崭新未来
The China Neonatal Genome Project: towards a new future in the treatment of genetic diseases
Received date: 2024-04-10
Online published: 2024-05-10
周文浩 . 中国新生儿基因组计划：迈向遗传病治疗的崭新未来[J]. 临床儿科杂志, 2024 , 42(5) : 379 -383 . DOI: 10.12372/jcp.2024.24e0329
With the advancement of science and technology, screening and diagnostic techniques for neonatal genetic diseases have made great leaps forward, especially the application of next-generation sequencing (NGS) technology, which has greatly improved the efficiency and accuracy of clinical applications. However, in the face of rapid diagnosis, it has become a new challenge to provide effective treatments to improve the overall prognosis of children.This article will start from the China Neonatal Genome Project, comprehensively and in-depth discuss the current status of newborn genetic disease screening and treatment, focus on the key issues of personalized treatment research and application, and propose efforts for future directions.
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