World Rare Disease Day

News:The World Economic Forum has released a study ahead of Rare Disease Day which is observed on February 29 every year.

Facts:

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.

Suggestions:

• 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.