申请人聚焦重要致盲眼病视网膜变性（RD）的机制研究，发现了遗传性RD（HRD）的新致病基因SNRNP200和PRPF4，以及此类pre-mRNA剪切基因缺陷引发HRD的新机制；创新设计高效的HRD靶基因筛查技术并揭示了1种新型HRD综合征及其机制，百余个基因新突变及临床特征，显著辅助临床诊断并为基因治疗提供依据；阐述了mTOR通路异常激活是多因素下RD重要发病机制及治疗新靶点，有重要临床转化意义；揭示了PDGF-CC对多种RD模型的重要保护作用机制。发表SCI文章28篇，总IF=120.019，近5年通讯14篇/第一3篇（含共同），代表作在JCI、HMG、PNAS、AJHG等重要杂志及Ophthalmology、IOVS等眼科领头杂志发表。主持国家自然基金两项，江苏省创新团队等四项省重点项目，入选中组部青年千人，基金委优青等9项人才项目，获天津市科技进步一等奖、江苏省青年科技奖等。

The applicant has been constantly focused on the genetic and mechanistic studies on retinal degenerations (RD), which are the major causes of blindness worldwide. He has discovered two new disease-causing genes for hereditary retinal degenerations (HRD) including SNRNP200 and PRPF4, and has revealed the novel pathogenic mechanism by which the deficiency of pre-mRNA splicing genes causes HRD. HRD exhibit significant genetic and clinical heterogeneities, which have challenged the traditional method to detect the mutation. The applicant has therefore developed a high efficient targeted gene sequencing approach for HRD. By the application of this new approach in over 1000 patients with HRD, he has demonstrated a new syndrome of HRD with underling genetic mechanism, and identified over 100 novel mutations with their clinical characteristics. These studies significantly assisted the clinical diagnoses for complicated HRD and provided the rationale and basis for further gene therapy. In the studies of multifactorial retinal degeneration (MRD), the applicant has discovered a fundamental pathogenic mechanism for the disease that involves abnormal activation of mTOR signaling and demonstrated that inhibition of mTOR signaling was an important therapeutic strategy for RD, which has significance for future clinical treatment. In addition, he found that PDGF-CC had protective effect for a variety of RD and illustrated the relevant mechanism. Through these studies, the applicant has generated 28 publications recorded by Science Citation Index (SCI). In particular, he published 14 papers as corresponding author and 3 papers as first author over past 5 years. Some of these articles were published in those high impacted journals such as Journal of Clinical Investigation, Human Molecular Genetics, PNAS and American Journal of Human Genetics, and some were published in the leading journals in the area of ophthalmology such as Ophthalmology and IOVS. To further conduct innovative researches, the applicant is now leading two projects granted by National Natural Science Foundation of China and 4 major provincial projects including the Jiangsu innovative team project. The applicant has been selected into a series of talent programs including “National thousand young talent program” and “National Natural Science Foundation for young talent”. In addition, the applicant has received the first grade award for technology advancement and the second grade award for natural science issued by Tianjin government, and the technology award for youth issued by Jiangsu government.