The document summarizes the human genome project. It discusses that the goal of the project was to map all the genes in the human DNA and determine the sequence of the 3 billion nucleotide base pairs. It was a large international project started in 1990 involving many universities. Some key milestones were determining the genes and their sequences, improving data analysis tools, and addressing ethical issues. The project provided benefits like understanding disease and developing personalized medicine. However, it also raised social issues regarding privacy of genetic data and potential discrimination. The sequencing revealed there are around 30,000 genes but many functions are still unknown. Future challenges include determining non-coding DNA and gene functions.

1. PPT
PRESENTED BY
WANI HILAL
MICROBIOLOGY

2. CONTENTS
.Introduction
.History
.Goals
.Milestones
.Human genome stack up
.Future challenges
.Benefits
.Social issues

3. Until the early 1970’s, DNA was the most difficult cellular
molecule for biochemists to analyze.
Dna was first isolated by Friedrich Miescher in 1869 and
molecular structure was given by Watson and Crick.
DNA is now the easiest molecule to analyze – we can now
isolate a specific region of the genome, produce a virtually
unlimited number of copies of it, and determine its
nucleotide sequence overnight.
Introduction

4. Human genome is the entire genetic makeup of nucleus
within 23 pairs of chromosomes (DNA )
It includes both protein coding and non coding genes.
It consists of 3 billion base pairs( haploid) while
(diploid) genomes have twice the content.
Dna consists of nitrogenous bases usually 2 purines and
2 pyrimidine's
,deoxyribose sugar and a phosphate group
What is Genome

6. .The human genome project was an international scientific research
project with the goal of determining the nucleotide base pairs that
make up human dna and identifying and mapping all of the genes.
.It was started by USA govt in 1984 and launched in 1990.
.Twenty universities and research centers were involved in it.
.Funding was provided by Japan,Uk,France,Germany,Canada and china
.James Watson headed the overall research program.
.The project was not able to sequence all the dna. It sequenced only
euchromatic regions of the genome which make up 90% of the total
human genome.
.The heterochomatic regions were not sequenced under this project.
HGP

9. ■ Identify all the approximate 30,000 genes in human DNA,
■ Determine the sequences of the 3 billion chemical base pairs
that make up human DNA,
■ Store this information in databases,
■ Improve tools for data analysis
■ Transfer related technologies to the private sector, and
■ Address the ethical, legal, and social issues (ELSI) that may
arise from the project.
GOALS

10. .The human genome consists of 3 billion nucleotide bases ( A C T G)
.The average gene consists of 3000 bases,but size varies greatly with
the largest known gene dystrophin consists of 2.4 million bases
.The total number of genes is estimated 30000,almost all 99.9%
nucleotide bases is same in all people
.The functions are unknown for over 50% of the discovered genes
.Less than 2% of the genome codes for proteins
.Chromosome 1 has most genes (2968) and Y has the fewest (231)
.Scientists have identified about 1.4 million locations where single
base dna differences occurs in humans this provides information in
finding chromosomal locations for a disease and tracing human history
What does the sequencing
tell us

11. Short gun Sequencing

13. Organism Genome Size (Bases) Estimated Genes
Human (Homo sapiens) 3 billion 30,000
Laboratory mouse (M. musculus) 2.6 billion 30,000
Mustard weed (A. thaliana) 100 million 25,000
Roundworm (C. elegans) 97 million 19,000
Fruit fly (D. melanogaster) 137 million 13,000
Yeast (S. cerevisiae) 12.1 million 6,000
Bacterium (E. coli) 4.6 million 3,200
Human immunodeficiency virus (HIV) 9700 9

14. The mapping of the human genome will lead to a fundamental understanding
of how genes affect disease which in turn lead to new drugs, to individually
designed treatments and, perhaps, to correction of gene flaws before birth
Alert patients that they are at risk for certain diseases: Once scientists
discover which DNA sequence changes in a gene can cause disease, healthy
people can be tested to see whether they risk developing certain conditions
later in life.
: Personalized medicines can be developed based on the
way our individual bodies react to the disease and the treatments, which will
be more effective because the medicines will be tailored for our specific
medical needs.
BENEFITS

15. Diagnosis: Doctors can develop more accurate diagnostic techniques for
certain conditions which Accurately are difficult to diagnose at an early
stage.
• Identify potential suspects whose DNA may match evidence left at crime
scenes
• Exonerate persons wrongly accused of crimes
• Grow disease-, insect-, and drought-resistant crops
• Breed healthier, more productive, disease-resistant farm animals
BENEFITS

17. Dna editing tool
These are the dna sequences in bacteria ,these sequences conation
snippets of dna from viruses that attack bacteria(used to detect &
destroy dna from further attacks).(defense role).Cas9 is an
endonuclease(cuts dna)
Researchers from US,Korea,China repaired a mutation in human
embryos.(modify disease causing genes in embryos)
In may 2017 it was shown in mice that it is possible to shut down HIV 1
and even eliminate virus.
Josiah zayner a biochemist (first to edit his own genes)
44 old patient brain medix was suffering from (hunters syndrome) g
ene editing tool was introduced to cure his disease.(Crispr ZNFs) tech
used. First genetic edited human.
Caner immunotherapy has been built without immune cells

18. *Non immune cells are used to kill cancer cells.
*Simon davis from oxford uni developed this.
*Transgenic skin :a 7 year old boy lost his skin due to a rare genetic
disease, he received gene therapy for this epidermises bullosa
causes skin to blister ,he received epidermal stem cells (responsible
for regenerating skin)
*Nanotech and crispertech was used to turn off cholesterol regulated
in mice ,an advance research to correct genes that cause cholesterol
level high.
*In 2016 James r Clapper dir. intelligence called it threat ,named it a
weapon of mass destruction.
*Bioterriosm will occur ,bioterrorists will use biological agents for the
destruction of the whole world i-e bio war will occur.

19. Privacy of genetic information - it is unjust for medics (e.g. GPs, nurses, etc.) to
disclose confidential genetic information (i.e. information about that
person's genes and any abnormalities they might have) to anyone other than the
individual themselves. However, in the USA some life/health insurance companies
demand genetic information to base their policies on.
Fairness in its use by the public - schools, employers and insurance companies must
be sensitive to the genetic information and must not unfairly judge individuals based
on their genetic status. Some employers (e.g. the armed forces) may not employ an
individual whose parent(s) has a genetic condition they may inherit (that would affect
their work), even if they show no symptoms of it. This is called "genetic
discrimination".
Psychological issues - those specifically associated with being diagnosed with a
particular gene... the fact that a 20 year old individual finds out they are unlikely to
live past the age of 30 may cause a dramatic psychological response, such as anxiety
or depression.
Ethical, Legal and Social Issues

20. • Gene number, exact locations, and functions
• Noncoding DNA types, amount, distribution, information content, and functions
• Interaction of proteins in complex molecular machines
• Predicted vs experimentally determined gene function
• Evolutionary conservation among organisms
• Proteomes (total protein content and function) in organisms
• Correlation of SNPs (single-base DNA variations among individuals) with health and
disease
• Disease-susceptibility prediction based on gene sequence variation.
Future Challenges:
What We Still Don’t Know

21. THANK YOU