The World Health Organization (WTO) defines rare diseases as diseases or lesions between 0.65 and 1‰ of the total population. Currently, there are between 7,000 and 8,000 rare diseases, accounting for about 10% of human diseases. Most rare diseases are genetic, and thus are present throughout the person's entire life, which greatly affect the lives of patients and their families. Early genetic testing and genetic counseling are important for symptomatic treatment and supportive care.

Classification: disease

Data type: genome sequencing