Deng Jianwen and his team's dedication to research on rare diseases

Dr. Deng Jianwen, a researcher at Peking University First Hospital, leads a team dedicated to researching rare diseases such as oculopharyngodistal myopathy. This rare disease is challenging to diagnose and treat due to a lack of effective treatment methods, with only around 300 cases reported globally. After joining the hospital, Deng Jianwen, in cooperation with Dr. Wang Zhaoxia, identified the most common pathogenic gene, GIPC1, along with two other pathogenic genes in Chinese patients affected by this disease, thus addressing the issue of accurate diagnosis for most patients. He also mentors students in scientific research and emphasizes that doctors should prioritize basic research. Recently approved for the National Outstanding Youth Science Fund project, Deng Jianwen feels a profound sense of responsibility and is committed to continuing his work to overcome the challenges posed by rare diseases.

By Fu Rui, Xu Bowen(intern), Cao Wei and Liu Hongxia/China Youth Daily

来源：中国青年报客户端