Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University
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Retinal degeneration (RD) is a group of degenerative diseases occurring in human retina and is the leading cause of inevitable vision loss as well as midway blindness worldwide. The major representative RD includes inherited retinal dystrophy (IRD), age-related macular degeneration (AMD), and diabetic retinopathy (DR). We are dedicating to make efforts on elucidating the disease mechanisms of RP, translating laboratory technology to improve bedside outcome, and solving key basic problems together with retina specialists. The major technologies in our laboratory include clinical genetics and new capture sequencing, molecular biology, pluripotent stem cell & differentiation, experimental animal models (mouse and macaque).

IRD is a group of monogenic, vision-impairing diseases including retinitis pigmentosa (RP), Stargardt's disease, cone dystrophy or cone-rod dystrophy, etc. The common manifestation is a pathological change in rod and/or cone photoreceptor cells, which are the specialized and light-sensitive neurons in the retina. Currently, more than 165 disease-causing genes have been linked to IRD demonstrating the extreme genetic heterogeneity of the disease and therefore making molecular diagnosis technically challenging because it would require a massive commitment of time and resources. We have developed a customized capture sequencing strategy to comprehensively perform molecular diagnosis for IRD patients (PLoS One 2013; Genet Med 2014; Genet Med 2015), which would improve clinical diagnosis and patient outcome. We discovered the 37th gene of autosomal recessive RP, SLC7A14, recently and elucidated its disease mechanism in vitro and in vivo (Nat Commun 2014).

AMD is an age-related degenerative macular disease causing inevitable vision loss. It's prevalence is around 3% in China and supposed to increase significantly with the coming age of ageing. In the past decades, great efforts have been made on understanding genetic predispositions as well as environmental factors, and developing anti-VEGF therapy to solve neovascularization-related complications. In term of the disease etiology, retina pigment epithelium (RPE) dysfunction and disorganization are the key lesions. We are developing RPE replacement therapy using induced pluripotent stem (iPS) cells and bio-degradable scaffolds (Biomaterials 2014).

Recently we for the first time established RP patient-derived iPS cell lines for in vitro disease modeling and drug test (PLoS One 2011; Stem Cells Transl Med 2012; Stem Cell Reports 2018; Prog Retin Eye Res 2019), opening the door of patient-specific iPS application in the field. We are keeping on the disease mechanism study using these cutting-edge, state-of-art tools in the laboratory.

Beijing Institute of Ophthalmology,
Beijing Tongren Hospital,
Capital Medical University,
add.: No 8, Chongwenmen nei-St., Beijing, 100730 China.
Tel: 86-10-58265913;
E-mail: jinzb502[at]