On January 29, 2022, the Seminar on the Construction of Rare Disease Center of Huashan Hospital Affiliated to Fudan University was successfully held in the Garden Hall. The meeting seriously discussed the policy background of the establishment of the Rare Disease Center, Huashan experience, and overall goals.
Ma Xin, vice president of Huashan Hospital, pointed out in his speech that solidly promoting the prevention and treatment of rare diseases is an important part of the strategy of building a healthy China, relying on strong disciplinary advantages, Huashan Hospital has participated in the establishment and improvement of China's national rare disease registration system as a backbone unit in 2018, and the proposed Huashan Rare Disease Center aims to further integrate the superior resources of disciplines, improve the diagnosis and treatment capabilities of rare diseases, and actively promote the clinical application of new drugs and new diagnosis and treatment technologies for rare diseases to benefit more patients and families.
Professor Zhao Chongbo of the Department of Neurology introduced in detail the definition of rare diseases, the history of diagnosis and treatment, and the current situation and development at home and abroad, and shared the history of rare disease diagnosis and treatment in the Department of Neurology of Huashan Hospital, proposing to treat rare diseases as a "lifelong undertaking". In China, the incidence/prevalence of newborns is less than 1 in 10,000, which is defined as a rare disease, and there is still a large population in terms of Chinese population. Orphanet, the world's largest rare disease database, includes 6172 rare diseases (as of October 2018), accounting for about 10% of all human diseases, of which more than 80% are genetically related diseases. In 2005, with the support of tenured professor Lv Fax of Huashan Hospital, Professor Lu Jiahong and Professor Zhao Chongbo led the establishment of the neuromuscular disease professional group of Huashan Hospital. Thanks to the advantageous diagnosis and treatment platform of Huashan Hospital, the neuromyopathy professional group has rich clinical case resources, and in 2019, it led the establishment of the "Pan-Long Triangle Neuromyopathy Alliance", and by the beginning of 2022, the number of alliance units will increase to 75 units in 23 provinces and municipalities directly under the central government, and huashan Hospital will continue to exert its disciplinary leadership and influence in neurological rare diseases.
Professor Zhang Chaoyun of the Department of Endocrinology systematically shared the "Huashan Model" of clinical diagnosis and treatment of rare diseases in the field of neuroendocrine and multidisciplinary cooperation. In rare diseases, endocrine metabolism is related to about 35%, but there are long-term bottleneck problems such as "difficult diagnosis, less research and development, expensive drugs, rare professional talents, and many disciplines involved", so the reorganization of multidisciplinary advantages is an important breakthrough to solve the problem. Professor Zhang Chaoyun took the construction of the "Golden Pituitary Fusion Ward" created by the Huashan Golden Pituitary Team as an example, and shared in detail the advanced "Golden Pituitary Experience" such as multidisciplinary integration, full coverage of diagnosis and treatment, and integration of process standards. In addition, taking acromegaly as an example, we introduce the advanced experience of patient-side services (patient group, public number, systematic comprehensive assessment and follow-up), discipline group construction, and multidisciplinary collaboration, deep integration, seamless connection, and international exchange in difficult and complex cases. The "Huashan model" of neuroendocrine rare diseases provides patients with high-quality medical services while further promoting clinical basic research and professional talent training, and the final achievements will be fed back to the clinic, forming a benign closed loop in which doctors and patients benefit together.
Director of the Medical Affairs Department Wang Huiying introduced the domestic advanced rare disease diagnosis and treatment center management model and the necessity of the establishment of the center, "rarer than rare diseases are rare disease doctors", to achieve the national health including rare diseases in line with the "Healthy China" strategic goal, Director Wang Huiying then put forward the overall goal of the construction of Huashan Rare Disease Center, and strive to build the largest, the strongest diagnosis and treatment capacity, the most academic achievements in East China, the rare disease diagnosis and treatment center, the establishment of efficient, standardized, multidisciplinary integration of rare disease diagnosis and treatment model, And establish a rare disease related discipline group, with the advantages of disciplines to drive related disciplines to promote clinical basic research, the "Huashan model" advanced experience to the Yangtze River Delta, serving the whole of China.
Professor Lu Jiahong of the Department of Neurology, Professor Li Yiming of the Department of Endocrinology, Professor Ye Hongying, Professor Zhang Chaoyun, Professor Xu Jinhua of the Department of Dermatology, Professor Li Shengqing of the Department of Respiratory Medicine, Professor Zhong Mingkang of the Department of Pharmacy, Professor Liu Jie of the Department of Gastroenterology, Professor Guan Ming of the Department of Laboratory Medicine, Associate Professor Ding Tianling of the Department of Hematology, Associate Professor Xue Yu of the Department of Rheumatology, Associate Professor Gao Yan of the Department of Infection, Huang Hong, Director of the Information Center, Qiu Zhiyuan, Executive Deputy Director of the Outpatient Department, and other clinical experts and heads of functional departments have expressed their full support for the establishment of the Rare Disease Center of Huashan Hospital. The positioning of the rare disease center and the existing card neck problem were discussed, and everyone agreed to create various conditions to support the accurate introduction, accurate diagnosis, new drug application and treatment monitoring of rare diseases, and was committed to providing "one-stop, precise and personalized" services for rare disease patients to maximize the convenience of patients and their families.