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Completion of ‘10,000 Genome’ Project

Why is it in the news?

  • The Department of Biotechnology (DBT) declared the successful completion of the ‘10,000 genome’ project.
  • This initiative aimed at creating a comprehensive reference database of whole-genome sequences from India.
  • Several other countries, including the United Kingdom, China, and the United States, have undertaken similar projects with the goal of sequencing at least 100,000 genomes.

Genome sequencing

About:

  • The human genome refers to the complete set of deoxyribonucleic acid (DNA) present in the nucleus of every cell in the human body.
  • It contains the entire genetic information necessary for the development, functioning, and maintenance of the organism.
  • DNA is composed of a double-stranded molecule, with each strand made up of a sequence of nucleotides. There are four types of nucleotide bases: adenine (A), cytosine (C), guanine (G), and thymine (T). Each base on one strand of the DNA molecule pairs specifically with its complementary base on the other strand. (A pairs with T, and C pairs with G).
  • The human genome consists of approximately 3.05 billion base pairs, arranged in a specific order along the DNA strands.
  • Genome sequencing is the process of determining the precise order or sequence of these base pairs in the DNA molecule.
  • Through genome sequencing, scientists can decode the genetic fingerprint of an individual, providing insights into their unique genetic makeup and potential predispositions to certain traits or diseases.

Significance:

Genetic Diversity in Indian Population:

  • India’s population of 1.3 billion comprises over 4,600 distinct population groups, many of which are endogamous. This diversity contributes to a wide range of genetic variations within the population.
  • Disease-causing mutations may be amplified within certain groups, leading to unique genetic predispositions.

Limitations of Extrapolating Findings:

  • Due to the genetic diversity of the Indian population, findings from population-based or disease-based human genetics research in other populations cannot be directly applied to Indians.
  • Unique genetic variations and disease-causing mutations may require specific research and treatment approaches tailored to Indian populations.

Evaluation of Diseases:

  • Genome sequencing is utilized to evaluate various aspects of diseases, including rare disorders, preconditions, and cancer, from a genetic perspective.
  • Nearly 10,000 diseases, such as cystic fibrosis and thalassemia, are known to result from single gene malfunctions.

Application of Advanced Analytics and AI:

  • Advanced analytics and artificial intelligence (AI) can be applied to essential datasets created by collecting genomic profiles across the Indian population.
  • This facilitates a greater understanding of causative factors underlying diseases and enables the development of potential treatments.

Customization of Drugs and Therapies:

  • Creating a database of Indian genomes provides researchers worldwide with access to genetic variants unique to India’s population groups.
  • This information can be utilized to customize drugs and therapies, ensuring more effective and personalized treatment approaches.

Conclusion

  • India’s completion of the ‘10,000 genome’ project taps into its rich genetic diversity, contributing significantly to global knowledge of human genetics.
  • This initiative reflects India’s strides in gene therapies and precision medicine, emphasizing customization, safety, and early disease detection.
  • Leveraging historical migrations, India adds depth to genomic research, paving the way for next-generation medicine.
Other initiatives for Genome Sequencing

Human Genome Project (HGP)

路聽聽聽聽聽聽 Launched in 1990 and completed in 2003, aimed to comprehensively study the DNA (genome) of various organisms, including humans.

路聽聽聽聽聽聽 Covered approximately 92% of the total human genome sequence, providing fundamental insights into human biology and genetics.

IndiGen Programme:

路聽聽聽聽聽聽 Undertakes whole-genome sequencing of thousands of individuals representing diverse ethnic groups from India.

路聽聽聽聽聽聽 Aims to enhance understanding of genetic variations within the Indian population and facilitate personalized healthcare interventions.

Global Alliance for Genomics and Health (GA4GH):

路聽聽聽聽聽聽 Sets standards and guidelines for the responsible and ethical use of genomic data within a human rights framework.

路聽聽聽聽聽聽 Works to expand access to genomic data while prioritizing privacy, security, and equity in genomic research and healthcare applications.

 

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