On May 23, 2018, the national version of the "First Rare Disease Catalog" landed, and angel syndrome was included as one of the first 121 rare diseases, which is inseparable from the efforts of experts at home and abroad.
Today coincides with the International Rare Disease Day, the "Angelman Syndrome International Forum and Angel Syndrome Patient Conference 2021" online forum was held, which was jointly initiated by the Department of Neurology of the Children's Hospital of Fudan University and the Rare Diseases Group of the Scientific Branch of the Chinese Medical Association, focusing on the latest advances in international brain science and gene therapy, the clinical challenges and needs of angel syndrome.
Angelman syndrome (Angelman syndrome) is one of the rare diseases of genetic neurodevelopmental disorders, children with this disease are usually smiling, fair-skinned, clinical often show severe developmental delay, language loss, abnormal gait, specific behavior, refractory seizures, etc., lifelong need to be cared for by the disease, bringing a great burden to the family.
At present, the incidence of angel syndrome in European and American populations is 1:24,000 to 1:12,000, and the domestic conservative estimate is at least hundreds of thousands.
In 2014, the Children's Hospital of Fudan University launched the first China Angelman Syndrome Academic Conference and Patient Conference, and it has gone through 8 spring and autumn seasons so far. Up to now, nearly 1,000 Angelman children have been registered nationwide, covering 34 provinces, municipalities and municipalities directly under the central government.
Since 2017, under the leadership of Professor Wang Yi, the Pediatric Hospital has actively carried out the international clinical registration research of Angelman syndrome, and established a special patient cohort of more than 300 cases of Angelman syndrome through the precision medicine project of the key research and development plan of the Ministry of Science and Technology, carried out multi-omics and neuroimaging research, actively promoted the research of gene modification therapy, and actively sought the support of the "Angel Wings" charity special fund.
At the forum, clinicians, researchers, scholars and scientists from professional institutions at home and abroad shared the diagnosis and treatment and research progress of angel syndrome at home and abroad, introduced the clinical trials of angel syndrome, and took the needs of children and families as the starting point to jointly discuss the development prospects of the diagnosis and treatment of this disease.
On the 28th, experts from several key clinical departments such as the Department of Immunology, Nephrology, Rheumatology, Hematology, Neurology, Endocrinology, Orthopedics, Hepatology and Molecular Diagnosis Center of the Children's Hospital affiliated to Fudan University provided a full range of rare disease free diagnosis services for the majority of rare disease families on the Internet hospital platform of fudan university.
Over the years, the Children's Hospital of Fudan University has actively devoted itself to the diagnosis and treatment and research of rare diseases, and has accumulated rich clinical experience and solid research foundation in the comprehensive treatment of various rare diseases such as refractory epilepsy, angel syndrome, Prader-Willi syndrome, congenital hyperinsulinemia, primary immunodeficiency disease, hereditary liver disease, inflammatory bowel disease, and hematological tumors.
As a National Children's Medical Center, the Children's Hospital affiliated to Fudan University will continue to exert its advantages and radiation influence in the field of pediatric rare disease diagnosis and research, shoulder the social responsibility of children's health, and continue to devote itself to the diagnosis and treatment of difficult and critical diseases, especially rare diseases, so as to bring the hope of treatment to more families with rare diseases.
Author: Li Chenyan
Image source: Courtesy of the hospital