Importance of Creating Genetic Map

Table of Contents

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.

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.

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.