The document summarizes the Human Genome Project which aimed to sequence and map the entire human genome. The project was launched in 1990 and completed in 2003. Its goals were to identify all human genes, determine the sequences of DNA base pairs, make the data widely available, and address ethical issues. The sequencing process involved isolating DNA, cloning fragments, and using shotgun sequencing. The project has applications in medicine like diagnosing diseases, pharmacology, and gene therapy. It also has applications in agriculture, forensics, evolution studies, and more. Both pros and cons are discussed. Ethical, legal and social issues around areas like privacy, discrimination, and commercialization were also important considerations of the project.

1. HUMAN
GENOME
PROJECT
BY:
Mrs.Keerthi.K
Asst.Professor.
Vijay Marie CON

2. INTRODUCTION
• The term genome denotes to the total gene pool of an organism.
• Human genome is made up of myriad combination of four bases
A,C,T,G. These four bases joined in specific combinations to
produce all the necessary proteins to sustain the life.
• These four bases along with other factors determines how we
look and our characters.

3. INTRODUCTION
• The Human Genome Project (HGP) was an international
project that aimed to determine the complete sequence of
nucleotide base pairs that makeup human DNA and all the
genes it contains.
• It remains worlds largest collaborative biological project.
• The idea was picked up by in1984by the US government when
the planning started, was formally launched in 1990 and was
declared completed in 2003

4. GOALS
• To identify and map all the 20,000-25,000 genes in the human DNA from a
physical and functional stand point.
• To determine the sequences of the 3 billion chemical base pairs that make
human DNA.
• To store the information in databases.
• To determine more efficient technologies for data analysis.
• Allow the private sector access to the information's and technologies that
arise from this project
• To sequence the genomes of other organisms that are important in medical
research such as mouse drosophila etc.
• To address ethical, legal and social issues that may arise from the project,

5. SEQUENCING OR MAPPING OF HUMAN
GENOME
The genome sequencing is a tedious process:
• STEP-I: DNA sequencing-maps or locates pairs of genes on chromosomes
• STEP-II: DNA Isolation and Linkage- with a high purity index- tells us
location of a risky gene
• STEP-III: Fragmentation of DNA- into 1,50,000 base pairs in length.
• STEP-IV: Cloning of DNA fragments in Bacterial artificial chromosomes
and multiplication in Bacterial replication system- and construct libraries.
• STEP-V: Final sequencing using short gun sequencing method

6. APPLICATION OF HGP- IN MEDICINE
• Used to diagnose various genetic diseases.
• Witnessed a revolution in molecular understanding of the diseases
including Fragile X syndrome, type I and II DM, inherited colon cancer,
Alzheimer's disease, familial breast cancer, myotonic dystrophy etc.
• Invention of customized drug medicine.
• Early detection of genetic diseases
• Improved pharmacogenomics
• Gene therapy
• Novel and rational drug design

7. APPLICATION OF HGP- IN AGRICULTURE
AND LIVESTOCK
• Draught and insect resistant plants.
• This would ultimately lead to reduction in cost of agricultural production.
• Breed healthier, more productive and disease resistant farm animals
• Develop biopesticides
• Incorporate edible vaccines into food products
• Develop new environmental cleanup uses for plants like tobacco.
APPLICATION OF HGP- IN RISK ASSESSMENT
• Assess health damage and risks caused by radiation exposure including
low dose exposure
• Assess health damage and risk caused by exposure to mutagenic
chemicals and cancer causing toxins
• Reduce likelihood of heritable mutations

8. • Improve diagnose of disease
• Defect genetic predisposition of diseases
• Create drugs based on molecular information
• Use gene therapy and control systems as drugs
• Design ‘custom drugs’ based on individual
genetic profiles.
• Rapid detection and treatment of
pathogens in clinical practice.
• Develop energy resources (biofuels)
• Monitor environment to detect pollutants
• Protect citizens from biological and
chemical warfare
• Clean up toxic waste safely and efficiently
APPLICATION OF HUMAN GENOME PROJECT
MOLECULAR MEDICINE MICROBIAL GENOMICS

9. • Study evolution through germline mutations in
lineages.
• Study migration of different population groups
based on maternal inheritance.
• Study mutations on the Y chromosome o=tp trace
lineage and migration of males.
• Compare breakpoints in the evolution of mutations
with ages of population and historical events.
• Identify potential suspects at crime scene
• Establish paternal and other relationships
• Identify endangered And protected species
• Match organ donors with recipients in
transplant Programme
• Determine pedigree for livestock or seed lives
• Authenticate consumables such as wine
APPLICATION OF HUMAN GENOME PROJECT
BIOARCHEOLOGY,ANTHROPOLOGY,
EVOLUTION,HUMAN MIGRATION FORENSICS

10. • Advances in molecular medicine
• Advances in microbial genomics
• Advances in agriculture and livestock
breeding
• Genetically modified foods
• Mapping can locate cancer, mental illnesses
etc.
• Can identify if the fetus has genetic
mutations in the womb
• Research costs a lot
• People stigmatizing discrimination of genes
• People disagree with gene therapy as it is
against nature
• 15 year project
• Lots of ELSI
PROS AND CONS OF HGP
PROS CONS

11. ELSI IN HUMAN GENOME PROJECT
• No danger of misuse esp by courts,insurers,schools etc
Fairness in use of genetic
information
• Who should and who should not access the information
Privacy of genetic information
• A genetically abnormal person may have this issue and has to be addressed
Issues with regards to
psychological impact
• Counselling an affected individual and how personnel biases would affect
the reproductive issues
Reproductive issues
• Involves education of HCP regarding gene therapy and standards of genetic
testing procedures
Clinical issues
• Address questions like doe human behavior molded by genes? What is
difference between treatment and betterment and what is a disease or not.
Conceptual and philosophical
implications
• Genetically modified food and microbes – whether it is completely safe or
not
Health and environmental issues
• Patents, copyrights. Boundaries between commercialization and non
exploitation of data and materials.
Commercialization of products