中国新生儿基因组计划：迈向遗传病治疗的崭新未来

doi:10.12372/jcp.2024.24e0329

摘要/Abstract

摘要：

随着科技的进步，新生儿遗传疾病的筛查与诊断技术已经取得了巨大的飞跃，特别是下一代测序（NGS）技术的应用，极大地提高了临床应用的效率和准确性。然而，面对快速诊断的同时，如何提供有效的治疗手段，改善患儿的总体预后，成为了新的挑战。本文将从中国新生儿基因组计划出发，全面而深入地探讨新生儿遗传疾病筛查与治疗的现状，聚焦个体化治疗手段研发与应用的关键问题，提出面向未来的努力方向。

关键词: 新生儿遗传疾病, 基因筛查, 全基因组测序, 基因治疗, 生存质量

Abstract:

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.

Key words: neonatal genetic diseases, genetic screening, whole genome sequencing, gene therapy, quality of life

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.

ZHOU Wenhao. The China Neonatal Genome Project: towards a new future in the treatment of genetic diseases[J]. Journal of Clinical Pediatrics, 2024, 42(5): 379-383.

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