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Boxun Zhao, Ph.D.

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Biography
Hunan Normal University, Changsha, Hunan, ChinaB.S.07/2012Biological Sciences
Peking Union Medical College at Tsinghua Univsersity, Beijing, ChinaPh.D.07/2017Genetics
National Institute of Biological Sciences (NIBS), Beijing, ChinaPostdoctoral07/2018Bioinformatics
Boston Children’s Hospital and Harvard Medical School, Boston, MAPostdoctoralGenomic Medicine
2018 - 2019
Pilot Project Award
2020 - 2022
Rare Disease Research Fellowship

Overview
Dr. Boxun Zhao joined Dr. E. Alice Lee and Dr. Timothy W. Yu's labs in August 2018 as a postdoctoral fellow after a one-year postdoctoral training at Meng-Qiu Dong’s lab in National Institute of Biological Sciences (NIBS), Beijing, China. He obtained his PhD in Genetics in 2017 from Peking Union Medical College and Tsinghua University in Beijing, China. During his doctoral research in Liping Wei’s laboratory at the National Institute of Biological Sciences (NIBS) and Peking University, he studied somatic transposable element (TE) insertions in the human brain and neurological disorders. He developed a novel experimental protocol and established a bioinformatics pipeline to profile genome-wide TE insertions from bulk tissue samples, and his method is sufficiently sensitive to detect low-clonal TE insertions, i.e., ones present in a small number of cells. He has also participated in other projects investigating somatic point mutations in autism and healthy human genomes, and validating large structural variations that are undetectable by typical short-read sequencing platforms. His strong background in human transposon elements and his talents in experimental and computational work give him a solid foundation to pursue his long-term goal of resolving the importance and functional impact of TE insertions in human diseases; and translating scientific discoveries into therapeutics to cure diseases caused by transposon insertion.

Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. Rare Disease Research Fellowship (Boxun Zhao) Jul 1, 2020 - Jun 30, 2022
    The Manton Center for Orphan Disease Research
    Structural variants in rare disease: discovery, interpretation, and therapeutics
    Role: Investigator
  2. Pilot Project Award (Boxun Zhao) Oct 1, 2018 - Oct 1, 2019
    The Manton Center for Orphan Disease Research
    Pathogenic structural variant identification and splicing defect correction
    Role Description: Advances in next-generation sequencing have revolutionized the diagnosis of genetic diseases; however, there remains a significant fraction of genetic diseases that are not linked to causal mutations, in part because it is challenging to study some structural variants with current sequencing technologies and conventional analytical pipelines. This points to an urgent need for specialized variant calling tools, as well as long-read or linked-read sequencing approaches to elucidate the full spectrum of genomic variants. We propose to undertake an investigation of structural variants as underexplored sources of DNA variation that likely underlie a large portion of unresolved genetic cases. We will systematically identify pathogenic structural variants and characterize their effects on gene transcripts. This research will advance our understanding of the importance of structural variants as a mechanism underlying orphan diseases and will facilitate the development of novel diagnoses and therapeutics.
    Role: Investigator

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.