Splice-Altering Transposon Insertions in Neurodegenerative Diseases and Its Application in an Individualized ASO Therapy for Retinitis Pigmentosa

Monday, June 23, 2025 at 12:30 pm US EDT

Transposon insertions represent a significant yet understudied source of disease-causing variants and therapeutic targets. Through transposon profiling on patient cohorts with rare diseases, we uncovered a diverse collection of pathogenic insertions, including inherited, de novo, and mosaic events, many disrupting RNA splicing. In addition to molecular diagnosis, this talk will showcase the journey from the discovery to the design, development, and deployment of a tailored ASO therapy for a child with progressive vision loss caused by one such splice-altering transposon insertion.

Dr. Boxun Zhao obtained his PhD in Genetics in 2017 from Peking Union Medical College and Tsinghua University in China. As a Postdoctoral Research Fellow jointly mentored by Drs. Timothy W. Yu and E. Alice Lee at Boston Children’s Hospital, his research interests encompass basic research, molecular diagnosis, and genomic medicine, with a specific focus on transposons ("jumping genes") in the human genome. To improve the diagnosis and treatment of rare genetic diseases, Dr. Zhao has developed innovative sequencing methodologies and analytical pipelines for the detection of inherited, de novo, and somatic mutations for genetic cases. His background in transposon biology, coupled with his experimental and computational proficiency, provides a strong foundation for his long-term goal of resolving the importance and functional impact of transposon insertions in human diseases; and translating scientific discoveries into therapeutics.

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