According to the definition of the World Health Organization, rare diseases refer to diseases in which the number of patients accounts for 0.65 ‰ ~ 1 ‰ of the total population. More than 300 million people in the world suffer from rare diseases [1], of which about 20 million are China patients [2]. Among the more than 7,000 rare diseases confirmed in the world, 80% originated from genetic diseases caused by gene defects [2], and 70% of rare diseases occurred in childhood [3]. However, due to the low clinical awareness rate, the average diagnosis time of some patients is even as long as 5 to 7 years [1], which misses the best treatment window and brings a heavy burden to the family and society.

Xue Jingjie, Secretary-General of China Birth Defects Intervention and Relief Foundation, said: "In recent years, the state has successively introduced a series of measures to effectively reduce the economic burden of patients with rare diseases and their families, and further improve the medical security system for rare diseases. However, for patients with rare diseases and their families, diagnosis is still the first step on the long road to seeking medical treatment. The name of the project is' Rare Bright', which means that through the joint efforts of the government, charitable organizations, caring enterprises and society, a beam of hope will be illuminated for patients with rare diseases and their families. The project will help patients with rare diseases to be diagnosed as soon as possible and strive for the treatment window period; At the same time, it also allows more people to see and participate in the actions to help patients with rare diseases. "

Speech by Xue Jingjie, Secretary General of China Birth Defects Intervention and Relief Foundation

In addition to providing free genetic disease testing for 2,000 families of patients with rare diseases, the "Rare and Light" public welfare project will also provide systematic genetic disease diagnosis training opportunities for more than 100 clinicians through cooperation with 20 hospitals across the country to enhance the cognitive ability of professional doctors. "There are fewer doctors with rare diseases than patients with rare diseases, which is a big challenge in clinical work." Professor Wu Lingqian, head of the Department of Genetics, School of Life Sciences, Central South University, said. A study on birth cohort in China shows that the total incidence of birth defects in China is 5.6%[4]. According to the calculation of the annual birth population in China in 20021year [5], there are about 600,000 newborns with birth defects in China every year. Corresponding to this situation, there is still a shortage of doctors specializing in the diagnosis of genetic diseases in China. "I look forward to effectively improving the genetic counseling ability and professional ability of clinicians through multi-party cooperation, and moving the prevention and control barrier forward to reduce the occurrence of rare diseases." Professor Wu Lingqian said.

Professor Zhou Wenhao, vice president of the Pediatric Hospital affiliated to Fudan University, said: "With the continuous development of gene sequencing technology, many hospitals began to use this technology for diagnosis. But at the same time, clinicians need to further strengthen their understanding of genetic diseases in order to help patients better. At present, drugs for rare diseases are still scarce, so early screening of preventable and treatable rare diseases can greatly reduce sequelae and mortality. We also hope that through the' Rare Light' charity project, Qi Xin can work together to better promote the prevention and treatment of rare diseases. "

The "thin and light" public welfare project is also the practice of Mina's corporate social responsibility project iHope in China. The project was established on 20 17, and is dedicated to providing clinical genome sequencing (hereinafter referred to as "cwg") services for patients with rare diseases and families with undiagnosed diseases but insufficient medical conditions. At present, 1 1,400 patients worldwide have benefited from the iHope project. Among them, 40% patients were diagnosed after receiving cwg, and 60% patients changed their treatment methods after receiving cwg [6].

"I'm very glad that Mina's global public welfare project iHope landed in China. This project fully embodies the concept of' gene for good', which is Mina's vision. We hope that by improving the accessibility of genomics, we can help patients with rare diseases and their families in China to shorten the journey of diagnosis, reduce the economic burden and bring them hope. Li Qing, senior vice president of Imina and general manager of Greater China, said, "In the localization process of Imina, it is an important part to repay the local community and residents. In the future, we will participate more and contribute more in the field of public welfare. "