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MARSALA presented at the “13th Five-Year” Science and Technology Innovation Achievement Exhibition

NOV . 15 2021
Peking University, November 15, 2021: On October 26, President Xi Jinping visited the “13th Five-Year” Science and Technology Innovation Achievement Exhibition. The exhibition focused on the frontier of global sci-tech innovations, competitive areas of the economy, major national needs as well as people’s health.
 
President Xi Jinping at the “13th Five-Year” Science and Technology Innovation Achievement Exhibition

In the section on health innovations, Peking University’s MARSALA (mutated allele revealed by sequencing with aneuploidy and linkage analyses) was displayed.
 
Information on Display during the Exhibition

Qiao Jie, Xiaoliang Sunney Xie and Tang Fuchou from Peking University conducted a systematic study on the development mechanism of human embryos and revealed their epigenetic characteristics. On such a basis, the team developed a new method, titled MARSALA (mutated allele revealed by sequencing with aneuploidy and linkage analyses), to improve the accuracy, operability as well as to lower the cost of pre-implantation embryo genetic diagnosis.

The method can detect pathogenic mutation sites and chromosome abnormalities in the whole genome range through a one-step high-throughput sequencing on the single-cell level. Meanwhile, it can conduct high-precision linkage analysis, which comprehensively improves the coverage and accuracy of diagnosis in single-gene genetic diseases.

Moreover, to better diagnose various complex pathogenic mutations, the team has continuously developed new technologies in the diagnosis of monogenetic diseases combined with chromosomal abnormalities, the combined diagnosis of multiple pathogenic genes, the diagnosis of monogenetic diseases combined with leukocyte antigen matching, which can be used for the treatment of children with genetic diseases through umbilical cord blood hematopoietic stem cell transplantation. Up to today, this technology has been adopted by institutions both at home and abroad and helped thousands of families to conceive healthy offspring.

Previously, President Xi Jinping visited Peking University in 2014. At the Biomedical Pioneering Innovation Center (BIOPIC), Professor Qiao Jie, President of the Third Hospital of Peking University, briefed President Xi on the research progress of assisted reproductive technologies such as pre-implantation genetic diagnosis.
 
Professor Qiao Jie briefing Presdient Xi on the research progress

The Third Hospital of Peking University, in cooperation with BIOPIC, has developed MARSALA based on the MALBAC amplification technology to screen healthy embryos. This study is not only the result of multidisciplinary cooperation but also an example of the successful application of basic research results in clinical practice.
 
Group photo of researchers and the first test-tube baby of MALBAC embryo full genome amplification sequencing (from left to right: Xiaoliang Sunney Xie, Qiao Jie, Yan Liying, Tang Fuchou)

On September 19, 2014, the world’s first test-tube baby of MALBAC genome amplification and high-throughput sequencing was born at the Third Hospital of Peking University, marking China’s leading achievements in pre-implantation genetic diagnosis.

Written by: Jia Ruimin
Edited by: Estella Zhang Qiming
Source: Beida News (
Chinese)