The key to rare diseases is prevention! Third-generation IVF technology plays an important role in rare disease prevention

A relay-style ice bucket challenge has made more people aware of the rare disease called amyotrophic lateral sclerosis (acromegaly). "Panda babies" (Gosheimer's disease), "blue lips" (pulmonary hypertension), "marionettes" (multiple sclerosis), "porcelain dolls " (brittle bone disease) ...... Behind these seemingly beautiful and adorable names is the pain of many rare disease patients. The last day of February every year is the International Day of Rare Diseases, which aims to promote social attention to rare diseases and the problems faced by people with rare diseases.

So what is a rare disease? Rare diseases are diseases with a very low incidence and are rarely seen, also known as "orphan diseases". The World Health Organization defines a rare disease as a disease that affects 0.65‰-1‰ of the total population, and has identified about 5000-6000 rare diseases, the vast majority of which are incurable, and the patients and their families are faced with lifelong illnesses that bring great pressure on their medical care and lives.

Rare diseases are not rare. Although the incidence of rare diseases is low, there are many types of diseases. According to the incidence rate of 1 in 500,000 defined by the Chinese Medical Association, there are more than 20 million patients with rare diseases in China, with more than 200,000 new patients each year. Research shows that more than 80% of rare diseases are caused by genetic factors, and 50% develop at birth or during childhood. Once both spouses have the same defective gene, the next generation is likely to suffer from rare diseases.

The key to rare diseases is prevention. "For rare diseases, most of them are caused by genetic defects, and good prevention of birth defects plays a crucial role in the prevention and treatment of rare diseases. The official operation of 'third-generation IVF' technology plays an important role in rare disease prevention." Director Liu Rui Zhi of Reproductive Medicine-Prenatal Genetic Center of the First Hospital of Jilin University said. For families with rare diseases or genetic disorders, there is a chance to have a healthy child through scientific pre-pregnancy testing and guidance on reproduction.

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