News:The World Economic Forum has released a study ahead of Rare Disease Day which is observed on February 29 every year.
About Rare diseases:
- A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
- The most common rare diseases recorded in India are Haemophilia, Thalassemia, sickle-cell anaemia and primary immunodeficiency in children, auto-immune diseases among others.
Key takeaways from the study:
- 475 million people are affected by rare disease worldwide and only 5% of people with a rare disease have access to treatment.
- 80% of rare diseases result from genetic or genomic variants meaning an individual is born with a rare disease.This results in 30% of children born with a rare disease dying before they reach their fifth birthday often without a diagnosis.
- In India, there are around 56-72 million people affected due to rare diseases.
- Establish a global framework for the secure sharing and aggregation of genomic and clinical data to diagnose and treat rare diseases at a global scale.