🔸How does creating the database help?

1. Identifying genetic risks:
- Enables understanding of genetic predisposition to various diseases.
- Helps in developing therapies and diagnostic tools.

2. Discovering new variants:
- The project identified 135 million genetic variations, of which 7 million were unique to Indian populations.
- For instance:
- MYBPC3 mutation (linked to early cardiac arrest): Found in 4.5% of Indians, but rare globally.
- LAMB3 mutation (linked to a fatal skin disease): Prevalent in 4% of a population near Madurai but absent in global databases.

3. Population-level insights:
- Helps determine the frequency of disease-causing mutations, predicting disease prevalence.

4. Rare disease identification:
- Facilitates research into rare diseases and development of gene therapies.

5. Resistance to drugs:
- Identifies genetic variations that may cause drug resistance or adverse reactions. Example:
- A sect of the South Indian Vaishya community lacks a gene for processing certain anesthetics, leading to complications.

🔸What is the second phase of the project?

The second phase focuses on sequencing the genomes of individuals with specific diseases. Comparing these genomes with healthy ones will help identify genetic factors responsible for diseases and their progression.

- Likely diseases for study:
- Various cancers.
- Chronic illnesses like diabetes.
- Neurological and neurodegenerative conditions.
- Rare diseases unique to Indian populations.

This phase will produce actionable insights for personalized medicine and therapies.

🔸How will the data be shared?

1. Managed access:
- Data will be accessible only to Indian researchers through partnerships with the Department of Biotechnology.
- Scientists need to respond to specific research proposals to gain access.

2. Anonymity measures:
- Data will be double-blinded to protect participants' identities:
1. Partner institutes encode data before uploading to the central database.
2. Data is re-encoded before sharing with researchers.

3. Government funding:
- Research will be supported by government funding to encourage scientific advancement.

🔸Are there other such projects across the world?

1. Human Genome Project (1990-2003):
- The first complete human genome was sequenced by an international consortium.

2. 1,000 Genomes Project (2012):
- Published 1,092 human genome sequences from diverse populations.

3. UK’s 100,000 Genomes Project (2018):
- Focused on rare diseases, cancers, and hereditary disorders.

4. European 1+ Million Genomes Initiative:
- Aimed at sequencing over a million genomes across 24 countries.

These projects collectively contribute to understanding human genetics and enhancing global healthcare research.