Professor Guan Minxin's Team Wins the Second Prize of the Chinese Medical Science and Technology Award

On January 14, 2026, the official website of the Chinese Medical Association announced the evaluation results of the 2025 Chinese Medical Science and Technology Award. The scientific research achievement "Novel Strategies for Precision Prevention and Control of Pediatric Sensorineural Hearing Loss and Their Clinical Application and Popularization", submitted by the Fourth Affiliated Hospital of Zhejiang University School of Medicine in collaboration with Zhejiang University and other institutions, was awarded the Second Prize of the Chinese Medical Science and Technology Award.

This achievement was jointly accomplished by the Fourth Affiliated Hospital of Zhejiang University School of Medicine, Zhejiang University, Zhejiang Nurotron Neuroelectronic Technology Co., Ltd., and iGeneTech (Jiaxing) Biotechnology Co., Ltd. Professor Guan Minxin, the Qiushi Distinguished Professor of Zhejiang University, served as the first corresponding author. The team members include Huang Sui, Ji Yanchun, Wang Jinfu, Chen Chao, Cai Wanshi, Fu Yong, Meng Feilong, Wang Meng, Jia Zidong, etc. This award is also the only Chinese Medical Science and Technology Award won by China's otology field in this year.

Award Background

Initiated in 2001 by the Chinese Medical Association, the Chinese Medical Science and Technology Award is one of the most authoritative science and technology awards in China's medical and health field. It aims to recognize individuals and teams that have made outstanding contributions to medical science and technology innovation and achievement transformation, and plays a vital role in promoting the progress of medical science and technology and the clinical application of advanced technologies.

Highlights and Academic Contributions of the Achievement

Hearing loss is a major public health challenge in China. Data shows that there are approximately 27.8 million people with hearing disabilities in China, with about 30,000 new cases of deaf children reported each year. Pediatric sensorineural hearing loss not only severely impairs individual development and quality of life, but also imposes a long-term and heavy economic burden on families and society.

With the continuous support of the national 973 Program, national major scientific research programs, and key projects of the National Natural Science Foundation of China, Professor Guan Minxin's team has devoted more than 30 years to the research of pediatric sensorineural hearing loss, and achieved a series of original results at the international leading level:

01 Breakthroughs in Genetic Pathogenic Mechanisms

For the first time, the team elucidated the molecular mechanism by which mutations in the autosomal recessive deafness gene MAP1B cause abnormal microtubule function of spiral ganglion cells.

The team systematically revealed the key pathogenic roles of mitochondrial genome defects (e.g., in replication, post-transcriptional splicing, and nucleotide modification) in pediatric sensorineural hearing loss, and constructed a complete theoretical system.

02 Precision Diagnostic Technology System

A high-throughput, high-coverage screening and diagnostic platform for deafness-related genes has been established, laying a solid technical foundation for the clinical implementation of early screening, early diagnosis and early intervention.

03 Novel Therapeutic Strategies

Through stem cell and gene editing technologies, the team realized the differentiation of patient-derived induced pluripotent stem cells into key auditory cells and functional recovery, exploring a brand-new path for the gene therapy of hereditary hearing loss.

04 Major Breakthroughs in Localization

The domestically developed cochlear implant led by the team has successfully broken the long-term dependence on imported high-end implants, significantly reduced the economic burden on patients, and generated remarkable social and economic benefits.

Whole Exome and Full-Length Mitochondrial Capture: Core Tools for Precision Deafness Detection

In the above research and clinical transformation, gene detection technology is the key support for precision prevention and control. Focusing on the characteristic of high genetic heterogeneity of pediatric sensorineural hearing loss, whole exome sequencing (WES) and full-length mitochondrial capture sequencing technologies are routinely adopted and continuously optimized in clinical practice to fully elucidate its genetic pathogenic mechanisms.

Whole Exome Capture Sequencing (WES) covers the exonic regions of more than 20,000 human protein-coding genes, enabling one-time detection of hundreds of known deafness-related genes such as GJB2, SLC26A4, OTOF, MYO7A and MAP1B. It is suitable for sporadic, familial and clinically complex pediatric sensorineural hearing loss patients, helping to discover new pathogenic mutation sites and providing a scientific basis for genetic counseling, prognosis evaluation and reproductive guidance.

Full-Length Mitochondrial Genome Capture Sequencing achieves high-depth coverage of the entire mitochondrial DNA genome, enabling precise detection of maternally inherited deafness-causing mutations (e.g., m.1555A>G, m.1494C>T). It is particularly suitable for the risk assessment of drug-induced deafness and the screening of families with maternally inherited hearing impairment. Complementary to nuclear gene detection, it significantly improves the overall detection rate of hereditary hearing loss.

On this basis, the AIExome® Human Exome Panel V5-Inherit product launched by iGeneTech® innovatively integrates full-length mitochondrial genome capture probes on the basis of traditional whole exome capture, realizing an integrated detection of "high-depth nuclear gene exons + full mitochondrial genome". This design can simultaneously cover common and rare deafness-related nuclear gene mutations and mitochondrial pathogenic sites in a single test, more comprehensively meeting the clinical detection needs of pediatric sensorineural hearing loss, drug-induced deafness and maternally inherited hearing impairment.

The clinical application of the combined detection strategy of whole exome + full-length mitochondrial capture enables the whole-process management of pediatric sensorineural hearing loss from etiological analysis to precision intervention, laying a solid technical guarantee for the early prevention and control and personalized treatment of hearing loss.

Profile of the First Corresponding Author

Professor Guan Minxin is a National Specially Appointed Expert, and the chief scientist of the national 973 Program and national key research and development programs. He has long been committed to the basic and clinical research of mitochondrial genetics and maternally inherited diseases, and enjoys a high international reputation.

Up to now, he has published 253 academic papers, including 138 original papers on deafness. He has been selected as a Highly Cited Researcher in the field of biochemistry, genetics and molecular biology by Elsevier for 11 consecutive years (2014–2024), and has won many important honors such as the Second Prize of the National Science and Technology Progress Award and the First Prize of the Zhejiang Provincial Science and Technology Award.

Conclusion

The awarding of this achievement not only demonstrates China's international competitiveness in the field of basic research and clinical transformation of pediatric sensorineural hearing loss, but also fully reflects the great value of the in-depth integration of gene detection products with clinical disease prevention and control. It provides an important model for the construction of China's comprehensive hearing loss prevention and control system and the national strategy for birth defect prevention and control.

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