Q and A: rare diseases

What is the rare diseases？

A rare disease, also referred to as an orphan disease, is a medical condition that affects a small percentage of the population. In most countries, a disease is considered rare when it affects fewer than 1 in 2,000 people. However, definitions may vary slightly between regions.In some countries, such as Japan, diseases with fewer than 50,000 patients nationwide are considered "rare diseases." Meanwhile, the World Health Organization (WHO) defines rare diseases as those with a prevalence of 0.65‰ to 1‰ of the population, with currently confirmed rare disease types numbering as many as 6,000 to 8,000.

Rare diseases encompass a wide range of disorders, many of which are genetic in nature. Some examples of rare diseases include Huntington's disease, cystic fibrosis, Duchenne muscular dystrophy, and amyotrophic lateral sclerosis (ALS).

Because of their low prevalence, rare diseases often present unique challenges in terms of diagnosis, treatment, and access to resources and support services for patients and their families. Due to the limited number of affected individuals, research and development of treatments for rare diseases may also be limited compared to more common ailments.

What are the cause of the rare diseases？

Rare diseases encompass conditions with low prevalence rates rather than being specific ailments. Treatment for rare diseases parallels that of common diseases, contingent upon factors such as disease type, severity, etiology, patient health status, and available treatment modalities. While effective cures may be lacking for some rare diseases, treatment strategies can focus on symptom control, disease progression management, enhanced quality of life, and complication reduction.

What about the future of rare disease treatment?

As international attention to rare diseases increases, the treatment of rare diseases is also receiving more emphasis. The main trends in development include the following:

1. Early diagnosis and screening: With technological advancements, particularly in genetic sequencing, more rare diseases can be diagnosed early through newborn screening or genetic testing. Early diagnosis can help provide timely treatment and management, reduce complications, and improve patients' quality of life.

2. Personalized therapy: Personalized treatment plans may become more common for specific genetic variations or disease mechanisms. This may involve gene therapy, targeted drugs, and other customized treatment approaches to better meet the needs of patients.

3. Development of new treatment methods: Treatment methods for rare diseases are continually evolving. Scientists and the medical community are constantly striving to find new treatment approaches, including gene editing techniques, stem cell therapy, drug development, and more.

4. Clinical research and collaboration: Interdisciplinary collaboration and information sharing and cooperation among different countries and regions will help accelerate the discovery and dissemination of rare disease treatment methods.