A Chinese-foreign cooperative research project for exome sequencing and bioinformatics analysis of 1,000 rare patient samples was launched in Shenzhen on the 18th.

Shenzhen Huada Gene (BGI) and the United States Children's Hospital of Philadelphia (CHOP) stated that both sides hope to find more disease genes related to rare diseases through the genomics research of 1,000 rare diseases and provide clinical diagnosis and individualization of diseases. Treatment lays a solid genetic foundation.

Rare diseases are often inherited diseases, that is, rare mutations in certain patients or in a certain gene. The World Health Organization (WTO) defines the rare disease as a disease or condition that accounts for between 0.65 to 1 in the total population. There are 7,000 to 8,000 rare diseases that have been identified, accounting for about 10% of human diseases.

Due to the rare cases of rare diseases, most of the rare diseases lack large-scale and continuous scientific research and medical experiments, and the diagnosis of many rare diseases so far is still a problem.

With the development of sequencing technology, next-generation sequencing technology has a wider coverage and higher data accuracy. It is simpler, more economical, and more efficient than traditional research methods. It has potential in clinical applications and becomes a genetic disease diagnosis and research. The new important tool.

Huada Gene is committed to the research of genomics related to rare diseases. At present, it has established partnerships with more than 110 domestic and foreign companies, collected more than 3,500 patient samples, and involved more than 160 rare diseases.