申请人围绕遗传性视网膜疾病（IRD）开展了大量眼科遗传方面的研究。1、原创性发现新致病基因SLC7A14引起2%中国人常隐IRD，用体内外实验证明其致病性，是第一个在国内独立发现的IRD常隐基因（Nat Commun）；首次发现AHI1基因是IRD致病基因(Genet Med)；揭示中国人IRD致病基因突变频谱及表型关联(Genet Med)。2、建立RP患者iPS 细胞系并分化为视网膜细胞，成功完成体外疾病模拟与药物筛选，获得国际同行认可(Stem Cells Transl Med)。3、原创性构建功能化RPE细胞移植片(Biomaterials)。以第一或通讯作者在Nat Commun、Genet Med、JMG和Biomaterials等发表SCI论文27篇且2篇为封面，主持973组长等9项。获聘钱江学者和浙江省千人计划（创新长期），任Ophthalmic Genet编委。

My research interest has focused on inherited retinal degeneration (IRD). Firstly, we discovered a novel gene, SLC7A14, causing autosomal recessive IRD (Nat Commun 2014), revealed AHI1 is the causative gene for IRD (Genet Med 2014) as well as the mutation spectrum in Chinese patients (Genet Med 2015). Secondly, we generated iPS cells from 5 patients with IRD. The patient-specific iPS cells were differentiated into retinal pigment epithelial cells and photoreceptors for disease mechanism study and drug screening (Stem Cells Transl Med 2012). Additionally, we generated human retinal pigment epithelial cell transplant using a unique biomaterial scaffold (Biomaterials 2014). I am the editorial member of Ophthalmic Genetics and have 27 first or corresponding authorship papers, including 2 featured cover stories, in renowned international journals. I have had 9 national and provincial funding and have been awarded as Qianjiang Scholar and 1000-talent of Zhejiang Province..