DNA mutations and variations have been shown to play an important role in human diseases and other traits. Notably, these functional genetic variations are not limited to point mutations and single-nucleotide polymorphisms (SNPs). From 1990s, it has become apparent that human diseases and traits can also be explained on the basis of sub-microscopic genomic alterations, i.e. copy number variations (CNVs) and structural variations (SVs). Moreover, human genome architecture can induce genomic structural instability and cause disease traits. These conditions have been referred by a pioneer scientist, Dr. James R. Lupski at Baylor College of Medicine, as genomic disorders. Our current research interests are as follow.

CNVs in human diseases and their roles in pathogenesis

  • Neurodevelopmental diseases, including Pelizaeus-Merzbacher disease, childhood absence epilepsy, Landau-Kleffner syndrome, and etc. (collaboration with the groups of Prof. Yuwu Jiang at Peking University First Hospital, Prof. Shuizhen Zhou at Children’s Hospital of Fudan University, and Prof. Zilong Qiu at Institute of Neuroscience, CAS)
  • Male infertility, including spermatogenic impairment, Kallmann syndrome, and etc. (collaboration with the groups of Prof. Zheng Li at Renji Hospital and Prof. Xinru Wang at Nanjing Medical University)
  • Congenital scoliosis and other birth defects (collaboration with the groups of Prof. Xue Zhang and Prof. Guixing Qiu at Peking Union Medical College)

Mutational mechanisms of CNVs/SVs

  • Involvement of DNA replication in CNV mutations
  • Genome architecture inducing genomic structural mutations (collaboration with the groups of Prof. James Lupski at Baylor College of Medicine and Dr. Yiping Shen at Harvard Medical School)
  • Somatic CNV mutations during embryogenesis (collaboration with Dr. Kwong Wai Choy at Chinese University of Hong Kong)

CNVs/SVs in human populations

  • Genetic structures of CNVs in Chinese populations (collaboration with Prof. Li Jin at Fudan)
 Agilent  NimbleGen

Agilent DNA microarray scanner

NimbleGen MS 200

Photo by Renqian Du, all copy rights reserved.