袁健
副研究员 / 硕士生导师
主要从事眼表型组及高度近视等复杂眼病的遗传演化机制和精准诊疗研究，参与组织建立“近视相关遗传学和干预联盟（MAGIC）”和“跨物种眼部多组学队列（MUSIC）”，利用遗传学、表观功能基因组学和计算生物学的方法，采用干湿实验结合的方式，发现人类复杂眼病致病基因以及表观遗传调控机制，进行机制的探索和临床转化研究。
邮箱：danielwyuan@gmail.com
主页：https://yuan-group.github.io
研究方向
- 眼部表型组群体遗传和演化模式
- 高度近视等复杂眼病的致病机制和精准诊疗
- 人工智能虚拟群体的开发和应用
代表性论文
- Jian Yuan#, Yue Zhang#, Yinghao Yao#, Shasha Li#, Jiacheng Liang, Wei Dai, Jiaying Yang, Mengyao Liu, Qinyi Zhang, Yao Zhou, Jiahang Li, Hui Liu, Zhen Ji Chen, Myopia Associated Genetics and Intervention Consortium, Stuart MacGregor, Jia Qu, Xikun Han, Jianzhong Su. Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation. Science Advances,2026 Apr 20;12,eadw7768
- Jian Yuan#, You-Yuan Zhuang#, Xiaoyu Liu#, Yue Zhang#, Kai Li, Zhen Ji Chen, Dandan Li, He Chen, Jiacheng Liang, Yinghao Yao, Xiangyi Yu, Ran Zhuo, Fei Zhao, Xiangtian Zhou, Myopia Associated Genetics and Intervention Consortium, Xiaoguang Yu*, Jia Qu*, Jianzhong Su*. Exome-wide association study identifies KDELR3 mutations in extreme myopia. Nature Communications,2024 Aug 7;15(1):6703
- Xiangyi Yu#, Jian Yuan#, Zhen Ji Chen, Kai Li, Yinghao Yao, Shilai Xing, Zhengbo Xue, Yue Zhang, Hui Peng, Gang An, Xiaoguang Yu, Jia Qu*, Jianzhong Su*, Myopia Associated Genetics and Intervention Consortiums. Whole-Exome Sequencing Among School-Aged Children With High Myopia. JAMA Network Open,2023;6(12):e2345821
- Jianzhong Su*#, Jian Yuan#, Liangde Xu#, Shilai Xing#, Mengru Sun#, Yinghao Yao, Yunlong Ma, Fukun Chen, Longda Jiang, Kai Li, Xiangyi Yu, Zhengbo Xue, Yaru Zhang, Dandan Fan, Ji Zhang, Hui Liu, Xinting Liu, Guosi Zhang, Hong Wang, Meng Zhou, Fan Lyu, Gang An, Xiaoguang Yu,Myopia Associated Genetics and Intervention Consortium, Yuanchao Xue*, Jian Yang*, Jia Qu*. Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population. Cell Reports,2023,42,112510
- Zhengbo Xue#, Jian Yuan#, Fukun Chen#, Yinghao Yao, Shilai Xing, Xiangyi Yu, Kai Li, Chenxiao Wang, Jinhua Bao, Jia Qu, Jianzhong Su*, Hao Chen*. Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank. eBioMedicine,2022,82:104161
主持/参与项目
- 基于多组学数据解析高度近视罕见变异调控功能及风险预测研究，国自然青年基金（C类），2025-2027.
- 浙江省自然科学基金/重点项目/青稞项目，融合多组学与AI的中国人群全眼表型组动态量化解析高度近视病理演进及风险预警的研究，2026-2028.
学术兼职
- 中国遗传学会大人群健康与常见病遗传分会 委员
- 中国生物信息学会基因组信息学分会 委员
- 浙江省生物信息学学会健康大数据与转化医学专委会 秘书长
- 浙江省生物信息学学会青年委员会 副主任
- Phenomics《表型组学》期刊 青年编委