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Hemophagocytic syndrome (HLH) is a severely life-threatening rare blood disease with an incidence of only one in a million, named after
The team of Wang Qianfei and Liu Xin of the Beijing Institute of Genomics of the Chinese Academy of Sciences (National Bioinformatics Center) and the team of Zhang Rui of Beijing Children's Hospital affiliated to Capital Medical University focused on the above clinical problems, carried out research on the genetic variation of HLH neo-pathogens, combined with family models, genomic mutations, clinical characterization of patients and molecular biology function verification, and made a breakthrough discovery of HLH new pathogenic genes
The research team conducted genome-wide or exome-wide sequencing of 13 children and their parents in highly suspected primary HLH patients who did not carry known disease-causing mutations, and locked potential causative factors to the NBAS gene
Based on a large sample of HLH-affected people in China, combined with a family model to conduct in-depth research on children with HLH with obvious genetic defects, the new pathogenic gene NBAS of HLH was discovered for the first time in the world, and combined with functional experiments to reveal the intrinsic molecular mechanism
The research has been funded
A hypothetical model of NBAS gene defects causing HLH to occur
Source: Beijing Institute of Genomics, Chinese Academy of Sciences
