China.org Report: Zhao Chen – Demystifying Hereditary Eye Diseases

In the field of ophthalmology, he is like a calm and wise decipherer, pulling out the fog, tracking down the truth, identifying the “culprits”, and searching for targeted measures …… He used his actions to interpret the behavior and value of a young ophthalmologist. “The mother has night blindness, the child born will not also have night blindness?” “Is there a cure for hereditary eye disease and should we give up the diagnosis and treatment?” “What is the pathogenesis of hereditary retinitis pigmentosa?” …… Whenever confronted with patients’ questions and eager gazes, blinding eye diseases are the third most important disease affecting human beings as rated by WHO, and the most important among them is retinal degenerative diseases. Retinal degeneration is a large group of diseases commonly characterized by progressive photoreceptor cell loss, including: inherited retinal degeneration diseases caused by significant genetic defects and complex retinal degeneration diseases triggered by multiple factors. Using new biotechnology technologies, we have conducted world-class innovative research on the molecular diagnosis, pathogenesis and gene therapy of major retinal degenerative diseases, and developed biotechnology products. 2002 saw the beginning of research on the causative genes of common hereditary ophthalmic diseases, including congenital extensive extraocular myofibrillar fibrosis, congenital cataracts, and Marfan Syndrome, and we have searched for new genetic loci and mutations in these genes. Among them, retinitis pigmentosa (RP) is an important blindness-causing disease. In the study of retinitis pigmentosa (RP) causative genes and pathogenesis, we firstly localized a new chromosomal locus for RP, RP33; then discovered a new causative gene for RP, SNRNP200, and further discovered a new pathogenesis of RP in a yeast model. SNRNP200 is the first Chinese IPR RP gene. In 2011, Swiss scholars found that the prevalence of SNRNP200 gene mutation in Caucasian RP patients was as high as 4.2%, which proved the importance of SNRNP200 gene exploration work in RP research. This is a classic case of our scholars being at the international forefront of retinal disease research. Age-related Macular Degeneration (AMD) is another highly prevalent retinal degenerative disease, which is caused by complex multifactorial factors, and since 2006, Prof. Chen Zhao has further developed his research on AMD. By applying a series of cell biology and target gene modification methods on experimental animals, Prof. Zhao Chen discovered that the abnormal activation of mTOR cell pathway is an important underlying mechanism for the pathogenesis of AMD, and applied AAV-carrying transgenic technology to inhibit the exploration of mTOR signaling pathway in RPE cells, which further demonstrated that the mTOR cell pathway is a new target for AMD treatment. The results of the study reveal a novel pathogenesis of AMD and present a theoretical basis for mTOR as a target gene for the treatment of AMD and other complex retinal degenerative diseases, which is an interdisciplinary, original and important scientific discovery.