PIONEERING SCIENCE
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EFFICIENT MANIPULATION OF GENE DOSAGE IN HUMAN IPSCS USING CRISPR/CAS9 NICKASES
Publish on Nature Communications Biology (2021)
Abstract (Partial)
The dysregulation of gene dosage due to duplication or haploinsufficiency is a major cause of autosomal dominant diseases such as Alzheimer’s disease. However, there is currently no rapid and efficient method for manipulating gene dosage in a human model system such as human induced pluripotent stem cells (iPSCs). Here, we demonstrate a simple and precise method to simultaneously generate iPSC lines with different gene dosages using paired Cas9 nickases. Our method described herein can be a useful model system for investigating disease mechanisms and therapeutic development.
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GENETIC AND POLYGENIC RISK SCORE ANALYSIS FOR ALZHEIMER'S DISEASE IN THE CHINESE POPULATION
Published on
The Journal of Alzheimer's Association (2020)
Abstract (Partial)
Dozens of Alzheimer's disease (AD)-associated loci have been identified in European-descent populations, but their effects have not been thoroughly investigated in the Hong Kong Chinese population. SORL1 is associated with AD in the Hong Kong Chinese population. Meta-analysis corroborates the AD-protective effect of the SORL1 rs11218343 C allele. The PRS is developed and associated with AD risk, cognitive status, and AD-related endophenotypes. TREM2 H157Y might influence the amyloid beta 42/40 ratio and levels of immune-associated proteins in plasma. SORL1 is associated with AD in the Hong Kong Chinese population. The PRS model can predict AD risk and cognitive status in this population.