On September 22-23, the 1st Congress of Chinese Society of Rare Diseases (CSRD 2023) was held in Beijing. It was organized by the Chinese Medical Association (CMA) and the Chinese Society of Rare Diseases (CSRD), CMA and co-organized by PUMCH. Experts, medical professionals, and researchers in the field of rare diseases from all over the country gathered to showcase the latest achievements in clinical and basic research, share and discuss new concepts, methods, and practices in rare disease research. Concurrently, the first plenary session of the CSRD committee was held offline.

The diagnosis, treatment, research, and management of rare diseases have advanced by leaps and bounds in China. In February of this year, CSRD was established in Beijing. Recently, six departments including the National Health Commission released the “Second List of Rare Diseases”. Themed “Gathering for Rare Disease Patients”, CSRD 2023 provided a high-level platform for academic exchanges, further promoting the high-quality development of rare disease diagnosis, treatment, prevention, and research in China.

Academician Zhang Xue from the Chinese Academy of Engineering delivered a congratulatory message. He pointed out that China has seen rapid progresses and many original achievements in the field of rare diseases in recent years. He expressed his hope that with the joint efforts of all sectors of society, rare disease diagnosis, treatment, research, and medical security will continue to improve.

Wang Jian, Vice President of CMA, pointed out that CSRD is the youngest of the 90 societies under CMA. Its establishment marks a new milestone in terms of the attention to and support for rare diseases. He hoped that CSRD will bring out positive changes with its new organization, ideas and mechanisms and strive to improve research and clinical practices with a stronger sense of urgency, responsibility, and mission.

Li Linkang, Executive Director of the China Alliance for Rare Diseases, affectionately looked back on the arduous decade-long journey and incremental progress made by experts from various fields in promoting medical care for rare disease patients in China. He said that the China Alliance for Rare Diseases would work with CSRD to benefit more patients with rare diseases.

Zhang Shuyang, Director of CSRD and President of PUMCH, stated that since the establishment of CSRD, all the members have actively leveraged their academic and social influence in their respective region, institution, and professional field to carry out scientific research, education and training, and academic exchanges on rare diseases. For the prevention and treatment of rare diseases, they are committed to being managers, promoters, advocates, and trailblazers. In the future, CSRD will strive to write a new chapter of medical care for rare diseases, helping advance the Healthy China initiative along the way.

During the subsequent keynote session, Academician Zhang Xue, the Honorary Chair of the Congress, delivered a keynote speech on “Rare Disease Issues: Public Concern and Academic Research”, illustrating insightful views from perspectives of both care and compassion and academic frontiers. Professor Zhang Shuyang, the Congress Chair, presented “Development of China’s Rare Disease Diagnosis, Treatment and Research System”, introducing the latest developments in this regard. Professor Chen Wanjin from Fujian Medical University elaborated on “Discovery of New Genes and Conceptual Therapies for Neurogenetic Diseases”, using neurological rare diseases as examples to introduce the discovery of new genes in genetic rare diseases and conceptual treatment strategies targeting the etiology.

The congress set up four sub-forums to address issues such as difficulty of diagnosing, difficulty of treating, and uneven development of the discipline separately. The participants discussed a wide range of topics such as experience on and paradigms of discipline development, drug development and clinical trials, the application and promotion of genetic testing in rare disease diagnosis and treatment, and advances in the diagnosis and treatment of rare diseases of the heart, lungs, and kidneys. Several rare disease experts from PUMCH shared their gains and experience from their long journey of diving into rare diseases.  

During the guideline interpretation and case report session, experts and scholars discussed the development of rare disease guidelines and the challenges and strategies of genetic testing for rare disease diagnosis. They shared rare disease cases they encountered, analyzed the diagnosis and treatment process, and summarized their academic experience.

Obstructive hypertrophic cardiomyopathy and neurofibromatosis are two rare diseases marked by high prevalence and huge harm to patients. In light of this, experts discussed them separately. They interpreted guidelines and shared progress in diagnosis and treatment and multidisciplinary experience, with the aim of promoting good practices in medical care for patients with these two diseases.

The congress received a total of 1,279 submissions, and after several rounds of evaluation by experts from various disciplines, 740 papers were accepted, with 70 of them presented orally at the conference.

As the leading unit of CSRD, PUMCH has strengthened its capabilities for rare disease diagnosis and treatment, promoted national collaboration, and facilitated the establishment and development of the rare disease discipline. It has also developed a taskforce capable of both diagnosing and treating rare diseases, built a national platform for collaboration, promoted technological innovation, and assisted in rare disease prevention and management and drug accessibility. These are all vigorous efforts that the hospital has made for exploring a “Chinese model” for rare disease diagnosis, treatment, and research. PUMCH will continue to uphold the “people first, life first” tenet and contribute to the advancement of rare disease prevention and treatment and the Healthy China initiative.

▲Group picture of all the members of the first committee of CSRD, CMA

Written by Yan Xiaobo, Chen Mingyan and Liu Peng

Pictures courtesy of Sun Liang and CSRD

Edited by Yan Xiaobo and Chen Xiao

Translated by Liu Haiyan

Reviewed by Wang Yao