Transcript Human Genome Project

Human Genome
Project
What is a GENOME?
• All our DNA of an organism= "genome”
• Includes genes (2%) and “junk” DNA (98%)
• also encodes rRNA and tRNA
• Genes carry info for making proteins
required by body for growth and
maintenance
•DNA  mRNA  protein
• Proteins determine
• organism looks (phenotypes)
• how organisms eat or fight infection
• how it behaves.
What is the Human
Genome Project (HGP)?
• The international, collaborative research
program
• goal was the complete mapping of ALL the
DNA base pairs in a human cell
• 3 billion base pairs long = human genome
• ONLY 2% active genes; ~98% is “junk”
• http://www.genome.gov/25019885
• http://www.nature.com/nature/supplements/collections/humangenome/video/
When did the HGP
begin?
• Planned in 1988
• Begun formally in 1990
• Coordinated by the U.S. Department of Energy
(DOE) and the National Institutes of Health (NIH).
• Originally planned to last 15 years, but rapid
technological advances accelerated completion
date to 2003.
• Announced  97% finished in 2000
• Final HGP papers were published in 2006.
Why did it take less time
to complete the HGP?
•Improvements in sequencing
•Ex: Machines vs. people
•Polymerase Chain Reaction (PCR)
was developed
•A method of making a lot copies of
DNA so many people can work on
the same piece at one time
Who worked on the
HGP?
• Established by government agencies; funded publicly.
• U.S. Department of Energy (DOE) and the National
Institutes of Health (NIH).
• Celera Genomics is a private company whose former CEO,
J. Craig Venter, ran an independent sequencing project.
• Differences arose regarding who should receive the
credit for this scientific milestone.
• June 6, 2000
• government agencies and Celera Genomics held a joint
press conference to announce that TOGETHER they had
completed ~97% of the human genome.
Who’s DNA was
used?
• HGP does not represent any one person’s genome.
• Used 4 different ethnic groups
• Craig Venter of Celera Genomics has since
acknowledged that his DNA was used!
• Serve as a starting point for broad comparisons across
humanity.
• Knowledge obtained from the sequences applies to
everyone because all humans share the same basic set
of genes
• Humans are 99.9% identical genetically
Why did people have
reservations?
•Human genome has a lot of “junk”
so what is the value of sequencing
it?
•Is it too expensive?
•HGP cost ~ $2.7 billion dollars
•About $1 per base pair
What were the goals
of the HGP?
• identify all 20,000 genes in human DNA
• determine sequence of 3 billion bps in human DNA
• store this information in databases (Ex: BLAST)
• improve tools for data analysis
• transfer related technologies to the private sector
• to help achieve these goals, researchers also studied
genetic makeup of several nonhuman organisms.
• E. Coli , the fruit fly, and the mouse
What did they find
out?
• Humans have ~20,000 ACTIVE genes  much
less than originally thought
• The completed human sequence can now
identify the proteins’ locations.
• Made a physical “map” of each chromosome
• Includes non-coding sequences located
between genes, which makes up the vast
majority of the DNA in the genome (~98%).
What are the
benefits of the HGP?
- improvements in medicine
- Ex: gene therapy
- 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
What is Gene
Therapy?
• When genes are altered (MUTATED) so that the encoded
proteins are unable to carry out their normal functions 
genetic disorders can result
• Gene therapy is a technique for correcting defective genes
• A normal gene may be inserted into a nonspecific location
within the genome to replace a nonfunctional gene. This
approach is most common.
• Food and Drug Administration (FDA) has not yet approved
any human gene therapy product for sale.
• Current gene therapy is experimental and has not proven
very successful in clinical trials.
What now?
• HGP is critical for understanding human biology and
disorders as well as making drugs/therapies for:
• Heart disease
• Breast cancer
• Diabetes
• Alzheimer’s disease
• Cystic fibrosis
• And many more…
• Can help answer questions about evolution and
common ancestors
Ethical,
Legal and
Social
Issues of
the HGP
(ELSI)
• The U.S. Department of Energy (DOE)
and the National Institutes of Health
(NIH) spend between 3-5% of their
annual HGP budgets toward studying
the ELSI associated with availability of
genetic information.
• This budget is the world’s largest
bioethics program, and has become a
worldwide model.
Examples of ELSI
• Privacy legislation
• Gene testing
• Patenting
• Forensics
• Behavioral Genetics
• Genetics in the Courtroom
Why is the HGP
controversial?
• Fairness in the use of genetic information
• Who should have access to
personal genetic information,
and how will it be used?
• Employers
• Insurers
• Schools
• Courts
• Adoption agencies
• Military
Why is the HGP
controversial?
•Human responsibility
•Free will versus genetic determinism
• Should we “design” future
children?
Why is the HGP
controversial?
• Privacy and confidentiality of genetic
information
• How will privacy and
confidentiality managed?
Why is the HGP
controversial?
• Effects does “Gene Patenting” have on research/science
• Who owns and controls genetic
information?
• The person (or company) who discovered it, or the
person whose body it came from?
• Should genetic information be the property of
humanity?
• Is it ethical to charge someone (scientists or
general public) for access to a database of genetic
information?
• Will patent protection slow the advance of
research and be detrimental to society as a whole
in the long run?
Why is the HGP
controversial?
• Psychological impact and stigmatization due
to an individual's genetic differences.
• How are individuals affected
if they are genetically
“different”?
• How are society’s perceptions
and expectations of the
individual affected?
Why is the HGP
controversial?
• Clinical issues including the education of doctors
and other health service provider
• There is a growing demand to educate health
care workers to accurately evaluate genetic tests.
• Public needs to gain scientific literacy and
understand the capabilities, limitations and risks
of genetic testing.
• Standards need to be established including
quality controls to ensure accuracy and reliability.
• Should there be federal
regulation of genetic testing
and genetic counseling?
Why is the HGP
controversial?
•Health and environmental issues
concerning genetically modified foods (GM)
and microbes.
• What happens if these GM
foods mutate and “take over”
or outcompete natural
organisms?
Who decides?
• http://www.genome.gov/25019880