The Genome India project, aimed at creating a genetic map of the country

Subject: Science and tech

Section: Biotech

Context:

The government’s Genome India initiative on Tuesday (February 27) announced the successful sequencing of 10,000 whole genomes of healthy persons from across the country, creating a genetic map of the population.

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The Genome India project can help identify genetic mutations in Indian populations that make them vulnerable to specific diseases, and develop cures for such diseases.
Researchers from 20 science institutes across the country helped in collecting the blood samples, sequencing the genome, developing a methodology, and storing the data.
With each sequence requiring 80 GB storage space, the huge dataset of 8 petabytes will be stored at the Indian Biological Data Centre in Faridabad.
This dataset will be made available to researchers as “digital public good.”

What is the Genome India project?

The Genome India project was approved by the government in 2020 with the aim of creating a comprehensive catalogue of genetic variations found in the Indian population.
A map of genetic diversity is essential for understanding the history of our evolution, discovering the genetic basis for various diseases, and creating therapies of the future.
This cannot be done using data available in existing international databases, as Indian genomes are likely to be different from that of other populations.
Researchers who analyzed 5,750 of the genome sequences have already identified 135 million genetic variants found in India.

What is a genome, how is it sequenced?

The human genome is essentially a biological instruction manual that we inherit from our parents.
The four bases in DNA are adenine (A), cytosine (C), guanine (G), and thymine (T) are present here.
The four base pairs ie A,C,G, and T that come together to create everyone’s unique genetic makeup.
There are around 3 billion pairs of bases in the complete human genome.
This contains all the information needed to create your physical form and maintain it throughout life.
From your height, color of the eyes, the genetic diseases you get or those you are at a higher risk for, everything is determined by the genetic makeup.
To sequence the genome, researchers first extract the information from the blood.

How does studying the genetic makeup of the country help?

Senior scientist at the Centre for Cellular and Molecular Biology in Hyderabad, cited the example of a mutation, MYBPC3, which leads to cardiac arrest at a young age.
It is found in 4.5% of the Indian population but is rare globally.
Another mutation called LAMB3 causes a lethal skin condition, which is found in nearly 4% of the population near Madurai, but it is not seen in global databases.
It can help in targeted treatments, especially for rare diseases that usually arise from genetic anomalies.

How long did the project take?

The first whole human genome was sequenced with the collaboration of an international team.
It took 13 years and $3 billion, and was completed in 2003.
India announced its first complete human genome in 2009.
The samples were collected from the remotest parts of the country, covering various tribal populations as well.
In all, 99 distinct population groups were covered by the project.