China News Service, Shanghai, November 9 (Reporter Chen Jing) The "Rare and Light" public welfare project initiated by the China Birth Defects Intervention and Relief Foundation's Special Fund for Diagnosis and Treatment of Genetic Diseases was officially launched on the 9th.

　　In the next three years, the "Rare and Light" public welfare project will work with many domestic hospitals to provide free genetic disease testing for families of rare disease patients, and promote the improvement of the status of rare disease diagnosis and treatment in China through professional medical education and training.

The first batch of seven hospitals signed cooperation agreements, covering Beijing, Nanjing, Shanghai, Jinan, Hangzhou, Changsha and Fuzhou.

　　It is reported that of the more than 7,000 rare diseases identified worldwide, 80% are genetic diseases caused by gene defects, and 70% of rare disease patients have been diagnosed in childhood.

Xue Jingjie, secretary general of the China Birth Defects Intervention and Relief Foundation, said on the same day that the diagnosis is the first hurdle in the long journey of rare disease patients and their families seeking medical treatment.

The project will help rare disease patients be diagnosed as early as possible and strive for a treatment window; at the same time, more people will see and participate in the rescue of rare disease patients.

She explained to reporters: "The project is named 'Rare and Light', which means that through the joint efforts of the government, charitable organizations, caring enterprises and the society, it will illuminate a beam of hope for rare disease patients and their families."

Xue Jingjie, secretary general of the China Birth Defects Intervention and Relief Foundation, said that the "Rare and Light" public welfare project will help patients diagnose as soon as possible and strive for a window of treatment.

Photo courtesy of Immena

　　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, so as to improve the cognitive ability of professional doctors on diseases.

Prof. Lingqian Wu, Director of the Department of Genetics, School of Life Sciences, Central South University, said bluntly: "Rare disease doctors are rarer than rare disease patients is a major challenge in current clinical work."

　　According to Professor Zhou Wenhao, Deputy Dean of the Pediatric Hospital of Fudan University, with the continuous development of gene sequencing technology, early screening of preventable and treatable rare diseases can greatly reduce sequelae and reduce mortality.

　　During the interview, the reporter learned that the "Rare and Light" public welfare project is the implementation of the IMINA corporate social responsibility project iHope™ in China.

Established in 2017, the project is dedicated to providing clinical whole-genome sequencing (hereinafter referred to as "cWGS") services for rare disease patients and families with undiagnosed diseases and underserved medical conditions.

Currently, 1,400 patients worldwide have benefited from the iHope™ program.

Of these, 40% were diagnosed after receiving cWGS, and 60% changed treatment after receiving cWGS.

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