张康

　　美国加州大学圣地亚哥分校人类基因组医学研究所

　　Age-related macular degeenration(AMD)is the most common cause of visual impairment of the elderly in the developed countries.AMD is a multi-factorial disease that involves interaction of genetic and environmental influences.Allelic variants of genes encoding members of the alternative complement pathway，including CFH，and C3 strongly influence an individual’s risk of developing AMD.We and others demonstrated that LOC387715/HTRA1 locus at chromosome 10q26 also strongly impact AMD risk.We demonstrated that HTRA1 was significantly associated with AMD in Caucasian and Chinese cohorts.We showed a disease haplotype increased HTRA1 expression in AMD patients.We showed in our AMD population that variations in CFH，HTRA1，and C3 contribute to a vast majority of the genetic risk for AMD and are strongly predictive of advanced AMD and bilateralarity.In addition，we showed TLR3 plays a role in geographic atrophy.Smoking is the strongest idnetifiable environmental factor.Inducible pluripotent stem cells(iPS)can be obtained from individual patient and used to derive retinal photoreceptors and RPE for autologous cell based therapies.The recent advance in genetics and stem cell therapy of AMD will allow identification the high risk patients for customized intervention and treatment in the near future.