人工智能在口腔遗传病与罕见病精准诊疗中的应用研究进展

doi:10.13591/j.cnki.kqyx.2026.01.006

口腔医学 ›› 2026, Vol. 46 ›› Issue (1): 35-40.doi: 10.13591/j.cnki.kqyx.2026.01.006

• 口腔遗传病和罕见病的诊治 • 上一篇下一篇

人工智能在口腔遗传病与罕见病精准诊疗中的应用研究进展

张洁心, 周媛(), 郑黎薇()

口腔疾病防治全国重点实验室国家口腔医学中心口腔疾病临床医学研究中心四川大学华西口腔医院儿童口腔科,四川成都(610041)

收稿日期:2025-11-01 出版日期:2026-01-28 发布日期:2026-01-16
通讯作者: 周媛,郑黎薇 E-mail:zhou.yuan@scu.edu.cn;liwei.zheng@scu.edu.cn
作者简介:郑黎薇,口腔医学博士,四川大学华西口腔医院教授,博导,编辑部主任。美国加州大学旧金山分校联合培养博士(2008—2010),约翰霍普金斯大学访问学者(2012—2014)。中华口腔医学会遗传病与罕见病专委会副主任委员、口腔生物医学专委会委员,四川省女医师协会常务理事,口腔专委会主任委员,四川省口腔医学会副秘书长、儿童口腔医学专委会副主任委员。获国家科技进步二等奖、中华医学科技奖青年科技奖、四川省科技进步二等奖、四川省杰出青年基金。
基金资助:
国家自然科学基金(82170921);四川大学华西口腔医院R&D项目(RD-03-202409);国家教材建设重点研究基地项目成果

Research progress of precision diagnosis and treatment of oral genetic and rare diseases driven by artificial intelligence

ZHANG Jiexin, ZHOU Yuan(), ZHENG Liwei()

State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China

Received:2025-11-01 Online:2026-01-28 Published:2026-01-16
Contact: ZHOU Yuan, ZHENG Liwei E-mail:zhou.yuan@scu.edu.cn;liwei.zheng@scu.edu.cn

摘要/Abstract

摘要：

口腔遗传病与罕见病因患病率低、表现复杂,其精准诊疗是口腔医学领域的“小众但关键”难题。近年来,人工智能技术正在重塑传统医疗诊治范式,其应用为突破该领域困境提供了创新性解决方案,如辅助疾病影像学、面部特征分析与基因突变筛查,提高诊断的准确率与时效性,创新手术导航路径与个体化治疗策略等,但临床转化仍需跨越多重障碍。本文就近年人工智能在口腔遗传病与罕见病精准诊疗中的研究进展进行总结,讨论其现状、优势与挑战,为进一步临床研究与应用提供依据。

关键词: 人工智能, 深度学习, 罕见病, 遗传性疾病, 牙颌面畸形, 精准医学

Abstract:

Orofacial genetic and rare diseases, characterized by low prevalence and complex manifestations, represent a “niche yet critical”challenge in precision diagnosis and treatment within the field of dentistry. In recent years, artificial intelligence technology has been reshaping traditional medical diagnosis and treatment processes, and its involvement has provided an innovative approach to addressing these challenges. For instance, it assists in disease imaging analysis, facial feature assessment, and gene mutation screening, thereby improving the accuracy and timeliness of diagnosis. Meanwhile, it also innovates surgical navigation pathways and personalized treatment strategies. However, multiple barriers remain before such advances can be fully translated into clinical practice. This article summarizes the recent progress of research on the application of artificial intelligence to the diagnosis and treatment of oral genetic and rare diseases, discusses its advantages and challenges, and provides scientific evidence for future clinical research and practice.

Key words: artificial intelligence, deep learning, rare diseases, genetic diseases, dentofacial deformities, precision medicine

中图分类号:

R780.1

张洁心, 周媛, 郑黎薇. 人工智能在口腔遗传病与罕见病精准诊疗中的应用研究进展[J]. 口腔医学, 2026, 46(1): 35-40.

ZHANG Jiexin, ZHOU Yuan, ZHENG Liwei. Research progress of precision diagnosis and treatment of oral genetic and rare diseases driven by artificial intelligence[J]. Stomatology, 2026, 46(1): 35-40.

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人工智能在口腔遗传病与罕见病精准诊疗中的应用研究进展

Research progress of precision diagnosis and treatment of oral genetic and rare diseases driven by artificial intelligence

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