GENOMICS
Science
Genome
- A genome is the complete set of DNA present in an organism.
- It includes all genes and non-coding DNA sequences.
- DNA is organized into chromosomes which act as carriers of genetic information.
- Genome acts as a biological blueprint that determines physical traits, physiological functions and disease susceptibility.
- Genome sequencing is the process of decoding this blueprint.
HUMAN GENOME PROJECT (HGP)
• Overview
- International scientific research project conducted from 1990 to 2003.
- Focused on sequencing euchromatin regions of the human genome.
- Aimed to identify all human genes and determine the complete DNA sequence.
• Achievements
- First working draft released in 2000.
- Reference human genome made publicly accessible.
- Helped identify around 20,000–25,000 human genes.
- Enabled rapid growth of genetic research, diagnostics and biotechnology.
INDIA GENOME PROJECT (GIP)
• Overview
- Initiated by the Department of Biotechnology (DBT) in 2020.
- Aims to sequence genomes of 10,000 Indians.
- Objective is to create an Indian reference genome.
• Institutional Framework
- Involves 20 major institutions across India.
- Nodal institution: Centre for Brain Research, IISc Bengaluru.
• Significance
- Captures India’s vast genetic diversity.
- Helps in understanding population-specific disease patterns.
- Supports precision medicine and public health planning.
INDIGEN GENOME PROJECT
• Overview
- Launched by CSIR in 2019.
- Implemented by CSIR-IGIB (Delhi) and CSIR-CCMB (Hyderabad).
• Objectives
- Whole genome sequencing of Indian populations.
- Identification of genetic variants unique to Indians.
- Understanding disease susceptibility and drug response.
• Importance
- Foundation for personalized and preventive healthcare.
- Contribution to global human genome diversity database.
APPLICATIONS OF GENOMICS
• Pharmacogenomics
- Study of how genes affect an individual’s response to drugs.
- Helps in personalized medicine.
- Reduces adverse drug reactions.
- Example: Genetic screening before HIV drug administration.
• Gene Therapy
- Involves modification or replacement of faulty genes.
- Used to treat genetic disorders and some cancers.
- Example: Parkinson’s disease treatment using viral vectors.
• Gene Doping
- Use of genetic techniques to enhance athletic performance.
- Example: IGF-1 increases muscle mass and regeneration.
- Risks include cancer and heart disease.
- Banned by World Anti-Doping Agency.
• Genome Editing
- Technologies that enable modification of DNA sequences.
- Used in disease treatment, agriculture and research.
Techniques:
- Restriction Enzymes: Cut DNA at specific sequences.
- Zinc Finger Nucleases (ZFNs): Protein-DNA recognition with FokI enzyme.
- TALENs: Improved targeting accuracy.
- CRISPR-Cas9: RNA-guided DNA cutting, highly precise and efficient.
• Synthetic Genome
- Artificial construction of genetic material.
- Used in vaccine development and virus reconstruction.
- Example: Synthetic polio virus and influenza virus research.
• Gene Patent
- Legal protection granted for specific DNA sequences.
- Grants exclusive rights to discoverer.
- Raises ethical and access-related concerns.
STEM CELLS
• Definition
- Stem cells are undifferentiated cells capable of self-renewal.
- They can differentiate into specialized cell types.
- Act as repair and regeneration units of the body.
• Regulatory Framework in India
- Governed by New Drugs and Clinical Trial Rules, 2019.
- Stem-cell based therapies classified as new drugs.
- Mandatory government approval required.
TYPES OF STEM CELLS
• Totipotent Stem Cells
- Can form all cell types including placenta.
- Can develop into a complete organism.
• Pluripotent Stem Cells
- Can differentiate into almost all cell types.
- Cannot form an entire organism independently.
• Induced Pluripotent Stem Cells (iPSCs)
- Adult cells reprogrammed to embryonic-like state.
- Avoids ethical issues related to embryonic stem cells.
USES OF STEM CELLS
• Medical Applications
- Regeneration of damaged tissues and organs.
- Treatment of blood disorders, spinal injuries, burns.
• Research Applications
- Study of genetic disorders.
- Understanding disease progression.
- Cancer research.
• Drug Testing
- Testing safety and effectiveness of new drugs.
- Reduces dependency on animal testing.
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Subject: Science
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