Guozhuang Li

Genetics Clinic of Skeletal Deformity · Peking Union Medical College Hospital, PUMC & CAMS · company speakers →

Dr. Guozhuang Li is from Peking Union Medical College Hospital in Beijing, China. This hospital has been ranked as the number one hospital in China for ten consecutive years. It was funded and established by the Rockefeller family over a hundred years ago and is known as the "Johns Hopkins of the East."<br>From January to June 2025, Dr. Guozhuang Li is a visiting fellow at Dr. Ying Zou's Lab at the Johns Hopkins University School of Medicine.<br>Dr. Li's research focuses on leveraging deep phenotyping and genetic analysis to advance the understanding and diagnosis of rare diseases and genetic skeletal disorders.<br>As a core member of the Genetics Clinic of Skeletal Deformity at Peking Union Medical College Hospital, he has led collaborative efforts to develop China's first clinical guidelines for Ehlers-Danlos syndrome. Additionally, he has played a key role in establishing integrated workflows that combine deep phenotyping with genetic analysis for the diagnosis and management of rare bone diseases. These innovations aim to enhance diagnostic strategies and precision medicine for rare disorders.<br>Beyond his research, Dr. Li is actively involved in patient care, providing genetic counseling as part of a multidisciplinary team. His efforts are dedicated to improving clinical outcomes and quality of life for individuals with complex rare diseases.

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