Importance of Creating Genetic Map

Context: The Genome India project aims to catalogue genetic variations within the Indian population.

What is the Genome India Project?

• Approved in 2020, this project aims to create a comprehensive catalogue of genetic variations present in the Indian population.
• This “map” helps understand our evolutionary history, identify genetic bases for diseases, and develop future therapies.
• Existing international data is insufficient as Indian genomes likely differ from others due to factors like:
  • Large population size (1.4 billion) with diverse groups (over 4,600).
  • Prevalence of endogamy (marriage within communities) leading to distinct genetic makeup within groups.

What is a genome and how is it sequenced?

• The human genome is our genetic instruction manual, containing information for our physical form and health.
• It consists of 3 billion base pairs (A, C, G, and T) that determine our traits and disease risks.
• Sequencing involves:
  • Extracting genetic information from blood.
  • Cutting the DNA into smaller pieces and tagging them.
  • Using a sequencer to read the codes of these pieces and assemble the complete sequence.

How does studying the Indian genome help?

• Identify genetic bases for diseases:
  • Example: MYBPC3 mutation, causing young-age cardiac arrest, found in 4.5% of Indians but rare globally.
  • Example: LAMB3 mutation, causing a lethal skin condition, found in nearly 4% near Madurai (absent in global databases).
• Develop targeted treatments, especially for rare genetic diseases:
  • Example: Under-development mRNA vaccine for pancreatic cancer based on a mutation found in some patients.
• Identify resistance-indicating variants:
  • Example: A Vaishya community lacking the gene to process common anaesthetics, making them potentially fatal for them.

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