The first monograph on rare diseases based on clinical cases in China, edited by the affiliated Shanghai Children's Medical Center, has been published

On the morning of February 25, "2017 Shanghai International Rare Disease Day and the first-release ceremony of Curable Rare Diseases " undertook by Shanghai Children's Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, organized by Shanghai Foundation for Rare Disease, Rare Disease Branch of the Shanghai Medical Association and the Shanghai Red Cross, Shanghai Children's Foundation, Shanghai Children's Health Foundation and Shanghai Soong Ching Ling Foundation,was held successfully at the Shanghai Children's Medical Center.

The "Curable Rare Disease" is the first rare-disease monograph based on clinical practice in China, which is mainly edited byShanghai Children's Medical Center, taking 112 experts from all areas of Shanghai Foundation for Rare Disease in the United Nations more than a year to complete. It was Xie Lijuan, founder of the Shanghai Foundation for Rare disease and former vice mayor of Shanghai, and Yang Dinghua, director of Shanghai Children's Foundation and also the former vice mayor of Shanghai who uncovered the Curable Rare Disease, while Huang Ming, deputy director of the Shanghai Municipal People's Political Consultative Conference Proposed Committee and Zhang Houye, the director of Project Department of Shanghai Soong Ching Ling Foundation respectively unveiledStartFrom Now, Prevent Rare Diseases(volume one)and popular science books for the rare disease.

Curable Rare Disease, divided into two articles, includes 117 kinds of definitively-diagnosed and curable rare diseases, covering endocrine and metabolism, blood, breath, immunology, kidneys and rheumatism, cardiovascular, and many other professions, the first of which contains 56 kinds of diseasespublished in the "List of Main Rare Diseases (2016 edition)" by Shanghai Municipal Commission of Health and Family Planning on February 5, 2016, and the second of which includes 61 kinds of rare diseases that can be clearly diagnosed and treated.

Jiang Zhongyi said, the honorary editor of thimonograph and the director of Shanghai Children’s Medical Center, according to the NIH,nearly 7000 kinds of rare diseases been internationally recognized, accounting for about 10% of human diseases, less than 1% of which have effective treatments, causing great pain to the patient. Happily, the new-released book, “Curable Rare Disease,” has collected 117 diagnostic and treatable rare diseases, breaking this “1 percent” limit, which suggests that with the development of medical science and technology, more rare diseases will be conquered.

On the other hand, from the point of profession, majority of the rare diseases collected in this book is conclude by Chinese clinical diagnosis and treatment experience in the long period, and are presented by typical cases, using the most advanced molecular genetics technology testing in the world and apply ACMG standard to interpret genes, in order to facilitate clinical medical staff to have a better understanding of diseases.

With the development of social economy and medical technology, the country has listed the diagnosis and treatment of rare diseases as one of the key developments. The newly approved National Center for Children‘s Medicine (Shanghai) will focus on the diagnosis and treatment of major diseases and rare diseases. Given China’s large population base and a lot of patients with rare diseaseand the disease characteristics, it is urgent to further enhance the diagnosis and treatment of pediatric rare diseases and the overall level of clinical research.

Shanghai Children‘s Medical Center established the first rare disease diagnosis and treatment center in Shanghai in 2015. Since then, more than 1500 patients have been diagnosed and treated, and nearly 400 cases of rare diseases have been diagnosed, and more than 30 rare diseases have been reported in China. It is based on the accumulation of a certain number of clinical cases that the Shanghai Children’s Medical Center is confident to undertake the preparation of the curable rare disease. It is said a total of 59 clinical cases have been reported by the experts from the center, accounting for 40% of the 112 editors. At the same time, based on high-throughput sequencing technologies and data interpretation of international strategy in the diagnosis of rare genetic disorders, rare genetic disease identification and its pathogenic mechanism and other research is on steady progress. Besides, the training program for the new progress and genetic consultation on rare diseases is also approved by the national continuing medical education project in 2017, which will strengthen the development of rare diseases in China.

Xie lijuan, a former deputy mayor of Shanghai and founder of the Shanghai Foundation for Rare Disease, has been focusing on the diagnosis and treatment of rare diseases and the family situation of patients. She said, faced with the rare diseases, we should grasp the strong determination of “incessant exploration, limitless opportunities”, andtogether with the government, medical institutions, and social organizations, constantly explore the sound legal system, medical insurance payment, special drug domestic barriers, as well as the registration system of rare diseases and other related construction.

In the area of rare patient care, “a clover rare disease family club” was established by Shanghai Children‘sCenter in 2015, in which social workers would participate in joint clinic, practice the referral system, provide professional family social psychological consulting services, and integrate enterprise, foundation, social organizations, patients self-help groups together such as Xin Hong Properties, “William baby care center” to hold care activities for children with rare diseases, having undertaken international rare disease day social advocacy activities for three years. During the activities, Amgen Biotechnology Consulting (Shanghai) CO., LTD donated 1.5 million yuan to Shanghai Foundation for Rare Disease, supportingthe rare diseases registration project, and signed a “rare diseases registration project cooperation memorandum” with Shanghai Foundation for Rare Disease. Dazhong International Cargo Agency CO., LTD. donated 100,000 yuan to the Shanghai Foundation for Rare Disease. Guangzhou AmCare Genomics Laboratory CO., LTD. also donated 50,000 yuan to the foundation for genetic testing of rare patients and families.

In the end of activities, the leaders from the Shanghai Foundation for Rare Disease, the Shanghai Red Cross, Shanghai Children’s Health Foundation, Shanghai Jiao Tong University School of Medicine and Shanghai Children‘s Foundation handed out aid to the representative patients, hoping that they would be able to be confident struggle against the disease, and face their life positively. On the morning of February 25, “2017 Shanghai International Rare Disease Day and the first-release ceremony of Curable Rare Diseases ” undertook by Shanghai Children‘s Medical Center affiliated to Shanghai Jiao Tong University School of Medicine, organized by Shanghai Foundation for Rare Disease, Rare Disease Branch of the Shanghai Medical Association and the Shanghai Red Cross, Shanghai Children’s Foundation, Shanghai Children‘s Health Foundation and Shanghai Soong Ching Ling Foundation,was held successfully at the Shanghai Children’s Medical Center.

The “ Curable Rare Disease” is the first rare-disease monograph based on clinical practice in China, which is mainly edited byShanghai Children‘s Medical Center, taking 112 experts from all areas of Shanghai Foundation for Rare Disease in the United Nations more than a year to complete. It was Xie Lijuan, founder of the Shanghai Foundation for Rare disease and former vice mayor of Shanghai, and Yang Dinghua, director of Shanghai Children’s Foundation and also the former vice mayor of Shanghai who uncovered the Curable Rare Disease, while Huang Ming, deputy director of the Shanghai Municipal People‘s Political Consultative Conference Proposed Committee and Zhang Houye, the director of Project Department of Shanghai Soong Ching Ling Foundation respectively unveiledStart From Now, Prevent Rare Diseases(volume one) and popular science books for the rare disease.

Curable Rare Disease, divided into two articles, includes 117 kinds of definitively-diagnosed and curable rare diseases, covering endocrine and metabolism, blood, breath, immunology, kidneys and rheumatism, cardiovascular, and many other professions, the first of which contains 56 kinds of diseasespublished in the “List of Main Rare Diseases (2016 edition)” by Shanghai Municipal Commission of Health and Family Planning on February 5, 2016, and the second of which includes 61 kinds of rare diseases that can be clearly diagnosed and treated.

Jiang Zhongyi said, the honorary editor of thimonograph and the director of Shanghai Children’s Medical Center, according to the NIH,nearly 7000 kinds of rare diseases been internationally recognized, accounting for about 10% of human diseases, less than 1% of which have effective treatments, causing great pain to the patient. Happily, the new-released book, “Curable Rare Disease,” has collected 117 diagnostic and treatable rare diseases, breaking this “1 percent” limit, which suggests that with the development of medical science and technology, more rare diseases will be conquered.

On the other hand, from the point of profession, majority of the rare diseases collected in this book is conclude by Chinese clinical diagnosis and treatment experience in the long period, and are presented by typical cases, using the most advanced molecular genetics technology testing in the world and apply ACMG standard to interpret genes, in order to facilitate clinical medical staff to have a better understanding of diseases.

With the development of social economy and medical technology, the country has listed the diagnosis and treatment of rare diseases as one of the key developments. The newly approved National Center for Children‘s Medicine (Shanghai) will focus on the diagnosis and treatment of major diseases and rare diseases. Given China’s large population base and a lot of patients with rare diseaseand the disease characteristics, it is urgent to further enhance the diagnosis and treatment of pediatric rare diseases and the overall level of clinical research.

Shanghai Children‘s Medical Center established the first rare disease diagnosis and treatment center in Shanghai in 2015. Since then, more than 1500 patients have been diagnosed and treated, and nearly 400 cases of rare diseases have been diagnosed, and more than 30 rare diseases have been reported in China. It is based on the accumulation of a certain number of clinical cases that the Shanghai Children’s Medical Center is confident to undertake the preparation of the curable rare disease. It is said a total of 59 clinical cases have been reported by the experts from the center, accounting for 40% of the 112 editors. At the same time, based on high-throughput sequencing technologies and data interpretation of international strategy in the diagnosis of rare genetic disorders, rare genetic disease identification and its pathogenic mechanism and other research is on steady progress. Besides, the training program for the new progress and genetic consultation on rare diseases is also approved by the national continuing medical education project in 2017, which will strengthen the development of rare diseases in China.

Xie lijuan, a former deputy mayor of Shanghai and founder of the Shanghai Foundation for Rare Disease, has been focusing on the diagnosis and treatment of rare diseases and the family situation of patients. She said, faced with the rare diseases, we should grasp the strong determination of “incessant exploration, limitless opportunities”, andtogether with the government, medical institutions, and social organizations, constantly explore the sound legal system, medical insurance payment, special drug domestic barriers, as well as the registration system of rare diseases and other related construction.

In the area of rare patient care, “a clover rare disease family club” was established by Shanghai Children‘sCenter in 2015, in which social workers would participate in joint clinic, practice the referral system, provide professional family social psychological consulting services, and integrate enterprise, foundation, social organizations, patients self-help groups together such as Xin Hong Properties, “William baby care center” to hold care activities for children with rare diseases, having undertaken international rare disease day social advocacy activities for three years. During the activities, Amgen Biotechnology Consulting (Shanghai) CO., LTD donated 1.5 million yuan to Shanghai Foundation for Rare Disease, supportingthe rare diseases registration project, and signed a “rare diseases registration project cooperation memorandum” with Shanghai Foundation for Rare Disease. Dazhong International Cargo Agency CO., LTD. donated 100,000 yuan to the Shanghai Foundation for Rare Disease. Guangzhou AmCare Genomics Laboratory CO., LTD. also donated 50,000 yuan to the foundation for genetic testing of rare patients and families.

In the end of activities, the leaders from the Shanghai Foundation for Rare Disease, the Shanghai Red Cross, Shanghai Children's Health Foundation, Shanghai Jiao Tong University School of Medicine and Shanghai Children‘s Foundation handed out aid to the representative patients, hoping that they would be able to be confident struggle against the disease, and face their life positively.

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