Rare Diseases: Indian Scenario

About Rare Diseases

  • Rare Disease Spectrum: There are 6,000-8,000 classified rare diseases, but less than 5% have available therapies. Examples include Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, and haemophilia.
  • Treatment Accessibility: Approximately 95% of rare diseases lack approved treatments, and less than 1 in 10 patients receive disease-specific treatment. Around 80% of these diseases have genetic origins.
  • Prevalence Definition: The prevalence of rare diseases varies, affecting a small percentage of the population, typically ranging from 1 in 10,000 to 6 per 10,000 individuals. Generally, a 'rare disease' is a low-prevalence health condition compared to more ....
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