The Human Genome Project

New Discovery Paths and Diverse Applications

 Learning Outcomes…

The aim of this course is to define the aims and outcomes of the
human genome project and its future implications in medicine.

By the end of this course, you will be able to:

 define human genome project

 list the aims and outcomes of the project
 explain its future implications in medicine
 discuss social, ethical and legal issues of the project
What is the Human Genome Project?
- U.S. govt. project coordinated by the Department of Energy and the
National Institutes of Health, launched in 1986 by Charles DeLisi.
Definition: GENOME – the whole hereditary information of an organism that
is encoded in the DNA.

- Aims of the project:

- to identify the approximate 100,000 genes ??? in the human DNA.
- determine the sequences of the 3 billion bases that make up human DNA.
- store this information in databases.
- develop tools for data analysis.
- address the ethical, legal, and social issues that arise from genome
research.
 Human Genome
• The idea of a coordinated effort to sequence
the human genome was first raised at a
meeting at the University of California at
Santa Cruz in 1985
• What are some major concerns about
sequencing?
– Who will fund it?
– What impact will it have on biology?
– Who’s DNA should be sequenced?
 Human Genome
• Estimated that it cost $3 billion over the 15
year project that was funded by the
Department of Energy

• It began in 1988 and the first draft was

announced in 2000 with the more complete
version released in 2003 (2 years ahead of
schedule)
 Whose genome is being sequenced?
- the first reference genome is a composite genome from several different
people.
- generated from 10-20 primary samples taken from numerous anonymous
donors across racial and ethnic groups.
 In 2003 scientists in the
Human Genome Project
obtained the DNA sequence of
the 3 billion base pairs making
up the human genome
What we’ve learned so far from the
Human Genome Project

The human genome is nearly the same

(99.9%) in all people

Only about 2% of the human genome

contains genes, which are the
instructions for making proteins
Other Lessons from the Human
Genome Project

Humans have an estimated 30,000 genes;

the functions of more than half of them are
unknown

Almost half of all human proteins share

similarities with other organisms,
underscoring the unity of live
Much is still unknown!
New Scientific Discovery Paths
Enabled by DNA Sequences and Technologies
Scientific Discovery Path

Explore how DNA impacts HEALTH

Identify and understand

the differences in DNA
sequence (A, T, C, G)
among human
populations
Scientific Discovery Path
Understand what all the GENES do

Discover the functions of human

genes by experimentation and by
finding genes with similar functions in
the mouse, yeast, fruit fly, and other
sequenced organisms
Scientific Discovery Path

Learn what the rest of the

human genome does
Identify important elements in the
nongene regions of DNA that are
present in many different
organisms, including humans
Scientific Discovery Path

Understand how the genome

enables life

Explore life at the ultimate level of

the whole organism instead of
single genes or proteins.

The DOE Genomes to Life program provides a foundation for this

understanding by using the information found in the genomes of microbes,
life’s simplest organisms, to study how proteins—the products of genes—carry
out all activities of living cells.
 Diverse Applications
of DNA Data and Technologies

Medicine Energy Environment Agriculture Identification Bioanthropology

Diverse Applications

Medicine

• Develop more accurate and rapid diagnostics

• Design customized treatments
Diverse Applications
Microbes for energy and the
environment
Microbes thrive in every
environment on earth,
but the vast majority DO
NOT cause disease.
Understanding them at a
basic level will enable
use of their diverse and
sophisticated abilities.

• Clean up toxic wastes

• Capture excess carbon to help
reduce global climate change
• Generate clean energy sources
(e.g., hydrogen)
Diverse Applications

Bioanthropology
• Understand human lineage
• Explore migration patterns through time
Diverse Applications

agriculture, livestock
breeding, bioprocessing

• Make crops and animals more resistant to

diseases, pests, and environmental
conditions
• Grow more nutritious and abundant produce
• Incorporate vaccines into food products
• Develop more efficient industrial processes
Diverse Applications
DNA identification

• Identify kinships, catastrophe victims

• Exonerate or implicate people accused of crimes
• Identify contaminants in air, water, soil, food
• Confirm pedigrees of animals, plants, foods, wines
Public Consortium Celera Genomics
Sequence Genetic Mapping,
Genomes
Find Genes Mutation Detection

Establish
Function and Diagnostics/
Disease Mechanism Prognostics

Drug
Candidates Cure Gene Therapy
Standard Molecular Biology techniques – running agarose gels.
CS-Packard DNA Production Robotic Systems (x 3)
Multiplexed (104) Capillary Array for Electrophoresis
State of the Art - ABI 3700 “Prism” DNA Sequencer
 US $300,000 Each!

A room full of 3700 Sequencers – total price tag of US $22.5 Million

Very small changes in technology
have had a huge impact on the HGP…..

Imagine what a large change

in technology would do…
BCM-HGSC ~ 230 Personnel
 Summary of the Benefits of HGP

- improvements in medicine.
- microbial genome research for fuel
and environmental cleanup.
- DNA forensics.
- improved agriculture and livestock.
- better understanding of evolution
and human migration.
- more accurate risk assessment.
How is each area benefited specifically
by the Human Genome Project?
- Improvements in medicine:
improved diagnosis of disease.
- Microbial research: new energy
sources, bio fuels.
- DNA forensics: identifying
potential suspects at a crime
scene.
- Agriculture: more nutritious
produce.
- Evolution and human
migration: study migration of
different population groups
based on female genetic
inheritance.
- Risk assessment: reduce the
likelihood of heritable
mutations.
 Ethical, legal and social implications
of the Human Genome Project
- fairness in the use of genetic
information.
- privacy and confidentiality.
- psychological impact and
stigmatization.
- genetic testing.
- reproductive issues.
- education, standards, and quality
control.
- commercialization.
- conceptual and philosophical
implications.
 What are the implications of the HGP
specifically to each of these areas?
Some questions to consider:
- Fairness and privacy: who should
have access to your genetic
information?
- Psychological stigmatization: how
does knowing your predisposition
to disease affect an individual?
- Genetic testing: should screening
be done when there is no treatment
available?
Some other issues:
- Reproductive issues: use of genetic
information in decision making.
- Clinical issues: implementation of
standards and quality control
measures in testing procedures.
Time Line of the Human Genome Project
What is next?
 Cancer Genome Research

 Identify changes in the genomes of tumors that drive

cancer progression

 Identify new targets for therapy

 Select drugs based on the genomics of the tumor

Sanger Ins. (UK)

 HGP Timeline

https://www.youtube.com/watch?v=MNFUf8dqk68