The Beijing Institute of Genomics(BIG)of the Chinese Academy of Sciences,as the leading Institute in Genomics,has walked through 20 year’s journey since being founded in November 2003.From participating in the Human ...The Beijing Institute of Genomics(BIG)of the Chinese Academy of Sciences,as the leading Institute in Genomics,has walked through 20 year’s journey since being founded in November 2003.From participating in the Human Genome Project(HGP)in completing the“1%task”to independently accomplishing the super-hybrid rice genome and other several national and international genome projects,BIG has made tremendous contributions in genomics research and development in China.In 2024,bearing great ambition and responsibility,BIG is transformed to the China National Center for Bioinformation(CNCB),aiming to become a global hub in bioinformatics big data services,innovation,and entrepreneurship.With the completion of its new infrastructure in 2027,CNCB is looking into a brighter future.展开更多
文摘Hutch inson-G ilford早老症(HGPS)为一种极为罕见的遗传性疾病,发生率1/8000000,特征性表现为患儿以极快速度衰老,多数死于冠脉病变引起的心肌梗死或广泛动脉粥样硬化导致的卒中,平均寿命13岁。绝大多数HGPS病例病因为LMNA基因第11个外显子发生点突变(G608G),生成的突变lam in A由显性负效应造成细胞核结构和功能受损。目前该病已有几种动物模型,实验性治疗可以在体外将出泡的细胞核恢复正常。HGPS是研究衰老和心血管疾病机制的一个极好的模型。
文摘The Beijing Institute of Genomics(BIG)of the Chinese Academy of Sciences,as the leading Institute in Genomics,has walked through 20 year’s journey since being founded in November 2003.From participating in the Human Genome Project(HGP)in completing the“1%task”to independently accomplishing the super-hybrid rice genome and other several national and international genome projects,BIG has made tremendous contributions in genomics research and development in China.In 2024,bearing great ambition and responsibility,BIG is transformed to the China National Center for Bioinformation(CNCB),aiming to become a global hub in bioinformatics big data services,innovation,and entrepreneurship.With the completion of its new infrastructure in 2027,CNCB is looking into a brighter future.