导师风采
Ruifang Sui
个人信息
Personal Information
- 性别：女
- 导师类型：博导
- 职称：主任医师
- 该职称任职时间：2015
联系方式
Contact Information
- 所属院系：北京协和医院
- 所属专业：
- 邮箱 : hrfsui@163.com
- 工作电话 : 01069156354
个人简介
Personal Profile
睢瑞芳，本科毕业于华西医科大学医学系英文班，后毕业于北京协和医学院，医学博士。曾获Helen Keller Eye Research Foundation奖学金，在美国Iowa 大学眼科，以及在美国眼科研究所从事眼遗传病学习和博士后研究。现为主任医师，教授，博士研究生导师，眼遗传病组负责人，眼遗传病学科带头人。主要医疗和科研领域：遗传性眼病、青光眼、先天眼部异常和疑难病。在我国首次报道眼病和开展的研究包括：Stickler综合征，家族性晶状体异位，先天性静止性夜盲，无脉络膜症以及Leber先天黑矇等各种视网膜变性等的临床研究和基因研究。目前承担美国抗盲基金会（我国大陆学者唯一获得资助者）、国家科技部，国家自然科学基金和北京市自然科学基金等重大课题科研项目，并和美国和加拿大等多所大学和研究所有合作，专攻眼遗传病的基因分析和基因治疗。利用靶向二代测测序，确定了大量遗传性视网膜变性患者的基因，并且找到新的致病基因；开展了有代表性的遗传性视网膜变性基因治疗研究。曾获北京市科技进步二等奖两项；中华医学科技奖二等奖一项。
团队简介
Team Profile
团队副教授2名、主治医师2名、博士后2名，学术型博士生5名。团队人员不仅临床功底深厚，并且有坚实的眼科和分子生物学实验技术，包括干细胞和类器官培养技术等。
- 研究方向Research Directions
遗传性眼病的发病机制及治疗
- 在校研究生Current Graduate Students
硕士研究生 0 名，博士研究生 5 名
- 科研项目Research Projects
| # | 项目名称 | 起止日期 | 金额 | 项目类型 | 本人角色 |
|---|---|---|---|---|---|
| 1 | RNA纳米颗粒递送新型AON提高USH2A基因外显子13相关视网膜变性疗效及其机制研究 | 2022-01-01 —— 2025-12-31 | 主持在研的国家或主持在研的国家或省部级科研项目科研项目 | 主持人 | |
| 2 | 眼相关罕见病的临床诊疗模式及分子发病机制研究 | 2019-01-01 —— 2022-12-01 | 主持在研的国家或主持在研的国家或省部级科研项目科研项目 | 主持人 | |
| 3 | 基于患者来源iPSC-RGC细胞模型OPA1突变相关遗传性视神经萎缩发病机制研究 | 2020-01-01 —— 2022-12-01 | 主持在研的国家或省部级科研项目 | 主持人 | |
| 4 | 先天性视网膜劈裂症新型载体基因治疗疗效研究 | 2023-01-01 —— 2025-12-01 | 主持在研的国家或省部级科研项目 | 主持人 | |
| 5 | 2种遗传性视网膜变性基因治疗临床转化研究 | 2022-10-01 —— 2025-09-01 | 主持的企业/行业委托重大项目 | 主持人 | |
| 6 | 开发遗传性眼病的基因治疗新方法 | 2017-01-01 —— 2019-12-31 | 主持的企业/行业委托重大项目 | 主持人 | |
| 7 | 基于OCT-CCSEG自主研发平台的先天性视网膜劈裂自然病程研究 | 2022-10-01 —— 2024-09-01 | 主持的企业/行业委托重大项目 | 主持人 |
- 发表论文Papers
| # | 论文题目 | 期刊名称 | 发表年份 | 论文署名 |
|---|---|---|---|---|
| 1 | Ocular Features in Chinese Patients with Blau Syndrome. | Ocular Immunology and Inflammation | 2019-02-26 | 通讯作者 |
| 2 | clinical characteristics and molecular genetic analysis of a cohort of Chinese patients with choroideremia | Retina | 2020-11-01 | 通讯作者 |
| 3 | Unilateral retinocytoma associated with a variant in the RB1 gene | Molecular Genetics & Genomic Medicine | 2020-04-01 | 通讯作者 |
| 4 | Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy | GENE THERAPY | 2020-08-01 | 通讯作者 |
| 5 | Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy | OPHTHALMIC GENETICS | 2020-08-18 | 通讯作者 |
| 6 | TNFRSF21 mutations cause high myopia | J MED GENET. | 2019-10-01 | 通讯作者 |
| 7 | Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease) | OPHTHALMOLOGY | 2019-10-01 | 通讯作者 |
| 8 | Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No.2 | American Journal of Ophthalmology | 2021-01-01 | 通讯作者 |
| 9 | Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR | EXPERIMENTAL EYE RESEARCH | 2020-09-01 | 通讯作者 |
| 10 | Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1 | MOLECULAR GENETICS & GENOMIC MEDICINE | 2020-08-01 | 通讯作者 |
| 11 | Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy | OPHTHALMIC GENETICS | 2020-10-01 | 通讯作者 |
| 12 | Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort | EXPERIMENTAL EYE RESEARCH | 2021-01-20 | 通讯作者 |
| 13 | Novel variants in PNPLA6 causing syndromic retinal dystrophy. | EXPERIMENTAL EYE RESEARCH | 2021-01-22 | 通讯作者 |
| 14 | Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7 | MOLECULAR VISION | 2021-05-07 | 通讯作者 |
| 15 | Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome | GENETICS IN MEDICINE | 2021-06-23 | 通讯作者 |
| 16 | USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. | BRITISH JOURNAL OF OPHTHALMOLOGY | 2021-05-01 | 通讯作者 |
| 17 | A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy | GRAEFES ARCHIVE CLINICAL AND EXPERIMENTAL OPHTHALMOLGOY | 2021-08-24 | 通讯作者 |
| 18 | Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants | Stem Cell Research | 2021-08-12 | 通讯作者 |
| 19 | Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations | Stem Cell Research | 2021-05-01 | 通讯作者 |
| 20 | Bacteria-Targeting Photodynamic Nanoassemblies for efficient treatment of multidrug-resistant biofilm infected keratitis | ADVANCED FUNCTIONAL MATERIALS | 2022-04-01 | 通讯作者 |
| 21 | Visual field characteristics in East Asian patients with Occult Macular Dystrophy (Miyake Disease):EAOMD Report No.3 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2022-01-01 | 通讯作者 |
| 22 | Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation | Stem Cell Research | 2022-04-01 | 通讯作者 |
| 23 | Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations | Stem Cell Research | 2022-01-03 | 通讯作者 |
| 24 | Characteristics and risk factors of retinal vasculopathy in antiphospholipid syndrome | LUPUS | 2022-04-11 | 通讯作者 |
| 25 | Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation | Stem Cell Research | 2022-01-10 | 通讯作者 |
| 26 | Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration | Science Advances | 2022-09-08 | 通讯作者 |
| 27 | Clinical and molecular features of a Chinese cohort with syndromic and nonsyndromic retinal dystrophies related to the CEP290 gene | AMERICAN JOURNAL OF OPHTHALMOLOGY | 2023-04-09 | 通讯作者 |
| 28 | Genetic analysis and clinical features of three Chinese patients with Oguchi disease | DOCUMENTA OPHTHALMOLOGICA | 2023-02-06 | 通讯作者 |
| 29 | PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY | RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES | 2019-10-01 | 通讯作者 |
| 30 | A Review of Machine Learning Algorithms for Retinal Cyst Segmentation on Optical Coherence Tomography | SENSORS | 2023-03-05 | 通讯作者 |
| 31 | Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megalobastic anemia syndrome | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022-03-01 | 通讯作者 |
| 32 | Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy | Journal of Genetics and Genomics | 2022-04-01 | 通讯作者 |
| 33 | A novel porcine model reproduces human oculocutaneous albinism type | CELL DISCOVERY | 2019-10-01 | 通讯作者 |
| 34 | Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. | Genes | 2023-09-26 | 通讯作者 |
| 35 | Deep Learning with Automatic Data Augmentation for Segmenting Schisis Cavities in the Optical Coherence Tomography Images of X-Linked Juvenile Retinoschisis Patients. | Diagnostics | 2023-09-24 | 通讯作者 |
| 36 | FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum | EXPERIMENTAL EYE RESEARCH | 2023-09-01 | 通讯作者 |
| 37 | Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy | GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | 2023-08-27 | 通讯作者 |
| 38 | Genotype–Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2024-02-07 | 通讯作者 |
| 39 | Longitudinal Natural History Study of Visual Function in Bietti Crystalline Dystrophy: Implications for Early Intervention. | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2024-04-11 | 通讯作者 |
- 科研获奖Research Awards
无
- 研究成果Research Findings
| # | 成果类型 | 项目/专利/新品种名称 |
|---|---|---|
| 1 | 出版高水平专著 | 实用视觉电生理检查 |
| 2 | 出版高水平专著 | Practical Visual Eletrophysiological Examination |