"China Model" solves the difficult problem of rare disease prevention and control

In 2018, five departments including the National Health Commission, the Ministry of Science and Technology, and the Ministry of Industry and Information Technology jointly issued the "First Batch of Rare Disease Catalog", which included 121 diseases such as albinism, hemophilia, and phenylketonuria

There is a group around us: they repeatedly go to the doctor, but have been unable to determine what is wrong with the body, and finally diagnosed the disease, but are told that there is no cure or no targeted treatment medicine.

According to statistics from the World Health Organization, the number of people suffering from extremely rare diseases accounts for 0.

In recent years, China has explored a "Chinese model" that solves the difficult problem of rare disease prevention and treatment by formulating a rare disease catalog, establishing a nationwide rare disease diagnosis and treatment collaboration network, strengthening regional collaboration and remote support, and opening doors of hope for many rare disease patients

Let rare diseases be "seen"

Not long ago, the Chief Physician Wan Xiaoqun of the Department of Cardiovascular Medicine of the First Affiliated Hospital of Xiamen University worked with multidisciplinary experts, and finally diagnosed a patient with amyloid cardiomyopathy that had been suffering for many years

"The general manifestations of this rare cardiomyopathy are similar to the symptoms of ordinary coronary heart disease, and it is difficult to be diagnosed.

In Wan Xiaoqun's view, the ability to diagnose rare diseases in a short period of time this time benefited from the National Rare Disease Diagnosis and Treatment Network established by the National Health Commission in 2019

Because rare diseases are mostly caused by genetic abnormalities, they have a higher incidence in children and adolescents

"After joining the collaborative network, the national and provincial leading hospitals will provide medical staff training for member hospitals, with the focus on improving the ability of clinicians to identify, diagnose, and treat rare diseases

Redefining rare diseases

In 2018, five departments including the National Health Commission, the Ministry of Science and Technology, and the Ministry of Industry and Information Technology jointly issued the "First Batch of Rare Disease Catalog", which included 121 diseases such as albinism, hemophilia, and phenylketonuria

Under this guidance, in recent years, China's rare disease research has gradually deepened, relevant data has been continuously accumulated, and clinicians have continuously improved their ability to identify, diagnose, and treat rare diseases.

Despite this, there are still many difficulties and challenges in the prevention and control of rare diseases in China.

Fortunately, these difficulties are now expected to be further resolved

Wang Lin said that with the advancement of medicine and the continuous improvement of society’s awareness of rare diseases, the definition of rare diseases in China needs to be revised.

Some experts believe that after the redefinition of rare diseases, it also provides a reference for the definition of orphan drugs, which will help promote the research and development of rare disease drugs in China and promote scientific and technological innovation in the medical field