China is one of the countries suffering the most from myopia. As the leading cause of blindness in China, High Myopia (HM) is a nationwide problem that poses a threat to the health of the people and even the national security. There are many challenges in the prevention and control of HM for it is not easy to understand the disease pathogenesis. The Eye Hospital of Wenzhou Medical University (the State Key Laboratory of of Ophthalmology, Optometry and Vision Science) is one of the major research centers for myopia in the world. Professor Qu Jia and research team of the State Key Laboratory recently discovered and identified a number of myopia genes in early-onset high myopiain children(the clever research design is to reduce the intervention of environmental factors). The findings published in PNAS (Top Journal, Level 1) through PNAS Direct Submission have won the high attention and concern of peers internationally.
The research teamdiscovered and identified BSG as a newly found HMpathogenic gene. By methods including theextended population screening, the knock-in of mutation gene into animal models, the research team validated the gene mutation as being pathogenic and constructedgene mutation mice models that may cause the lengthening of the axial length of eye to clarify pathogenic mechanism, so that laying the genetic foundation for the prevention and control of HM. As BSG is the first myopia gene validated by gene mutation knock-in mice models, it has attracted the wide attention internationally. The discovery also marks a new era in the study of the pathogenesis, prevention and control of early-onset HM.
Reportedly, all the research findings are made on research platforms including the State Key Laboratory of Ophthalmology, Optometry and Vision Science.