1. THE HUMAN GENOME PROJECT (HGP) 1990 - 2003
"The human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity.”
Universal Declaration on the Human Genome and Human Rights

2. AIMS PRIMARY ROLE… …THEN… …AS WELL AS…
To identify all of the approximate 30,000 genes in human DNA and determine their locus (position)
…THEN…
To determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases
…AS WELL AS…
To continue to improve tools for DNA analysis
To address the ethical, legal, and social issues that may arise from the project
To gain an understanding of the function of the non-coding DNA such as introns within genes and repetitive areas between gene.

3. Development
In the 1960’s scientists used cross breeding experiments and linkage studies to map the relative positions of genes on chromosomes – mostly in drosophila.
The $6 billion HGP officially started in 1990 with James Watson (as in Watson and Crick) as director.
Funding was a joint effort by the governments of several countries including the USA and UK, as well as from private sources hoping to make financial gains from the project.
When Watson resigned from the project in 1992 (due to his dissatisfaction of the greed displayed by the contributors by trying to patent early identifiable sequences of the DNA), the Human Genome organisation (HUGO) was established to continue the project.
Celera Genomics, a private company, was established and competed with HUGO.
In 2000 Celera, announced they had sequenced the genome. Many complained they had an unfair advantage as they could share the results of HUGO, but did not share their results.
In 2001 HUGO announced they had sequenced a ‘working draft’ of the genome from 20 different people and found a 99.9% compatibility.

4. Sequenced Genomes

5. Why linkage isn’t enough.
Linkage mapping is adequate when studying where in the genome a particular gene might be located in comparison to other genes
Linkage mapping is NOT adequate in providing the exact distance between genes. For example we might know that gene B is between gene A and C, but we don’t know where gene A, gene B or gene C actually are on a chromosome.
In order to know where a particular gene is found on a chromosome we need to under take physical mapping.
A physical map notes the actual location of a gene on a chromosome.

6. Chromosome maps.

7. HIGHLIGHTS SO FAR…
The human genome contains 3 billion nucleotide bases (A, C, T, and G).
The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases.
The functions are unknown for more than 50% of discovered genes.
The human genome sequence is almost (99.9%) exactly the same in all people.
About 2% of the genome encodes instructions for the synthesis of proteins.
Over 40% of the human proteins share similarity with fruit-fly or worm proteins.
Genes appear to be concentrated in random areas along the genome, with vast expanses of non-coding DNA between.
Chromosome 1 (the largest human chromosome) has the most genes (2968), and the Y chromosome has the fewest (231).

8. Benefits - Evolution
Study evolution through germline mutations in various lineages
Study migration of different population groups based on female genetic inheritance
Study mutations on the Y chromosome to trace lineage and migration of males
Compare breakpoints in the evolution of mutations with ages of populations and historical events

9. Benefits - Forensics
Greater accuracy in identifying the suspect of a crime by matching their DNA profile with that of any body tissue found at the scene of the crime.
Paternity testing (not necessarily a benefit to every individual) and other family relationships.
Exoneration of individual falsely accused of a crime.
Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers)
Detect bacteria and other organisms that may pollute air, water, soil, and food
Match organ donors with recipients in transplant programs
Determine pedigree for seed or livestock breeds

10. Benefits – Risk assessment
Assess health damage and risks caused by radiation exposure, including low-dose exposures
Assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins
Reduce the likelihood of heritable mutations

11. Benefits - Microbial New energy sources (biofuels) ©
New energy sources (biofuels)
Environmental monitoring to detect pollutants
Protection from biological and chemical warfare
Safe, efficient toxic waste cleanup
Understanding disease vulnerabilities and revealing drug targets
Improved diagnosis of disease
Earlier detection of genetic predispositions to disease
Rational drug design
Gene therapy and control systems for drugs
Pharmacogenomics "custom drugs"

12. ?Benefits – Breeding Disease, insect, and drought-resistant crops
Healthier, more productive, disease-resistant farm animals
More nutritious produce
Biopesticides
Edible vaccines incorporated into food products
New environmental cleanup uses for plants like tobacco

13. Limitations
Sequencing the human genome has lead scientists into its greater complexities. It is far more complicated that they ever imagined and it is now believed that the human genome and human function may never be truly understood.
They now believe that about 98% of the DNA does not code for proteins. Its function is mostly unknown.
Even though we might know were a gene sits on a chromosome, we don’t necessarily know how it functions, or how its protein functions.
Learning about the human genome doesn’t teach us to ethically and sensibly use the information we can gain about ourselves and others.

14. STEPING INTO THE FUTURE
Proteomics
Once scientists have located a particular gene and sequenced it, they can then study the protein that the gene makes. The study of proteins is known as proteomics.
Once the function of the protein has been identified, scientists can then artificially produce it using transgenic techniques.
Transgenics has already been used where the gene for insulin or Factor lllV has been inserted into cattle.
“Proteins are central to our understanding of cellular function and disease processes, and without a concerted effort in proteomics, the fruits of genomics will go unrealized.” Ian Humphrey-Smith, HUPO (Human Proteomics Organisation).

15. STEPING INTO THE FUTURE
Pharmacogenetics
An ultimate goal of pharmacogenetics is to understand how someone's genetic make-up determines how well a medicine works in his or her body, as well as what side effects are likely to occur.
In the future, advances gleaned from pharmacogenetics research will provide information to guide doctors in getting just enough of the right medicine to a person - the practice of "personalized medicine.“
Pharmacogenetics is already a multi billion dollar industry.

16. STEPING INTO THE FUTURE
Pharmacogenetics
People metabolize drugs at different rates and tests on genes that are involved in drug metabolism are being developed to see how much of a particular drug a person might need. Why is this so important?
Studies of people are being under taken who have certain desired reactions to drugs in order to perhaps transfer this reaction to others.
Helps understand who might benefit from certain drugs.
Help form a link between genes and the contribution they make to diseases.

17. STEPING INTO THE FUTURE
Environmental Genome Project
“The mission of the EGP is to improve understanding of human genetic susceptibility to environmental exposures.”
This “includes the goal of understanding how individuals differ in their susceptibility to environmental agents and how these susceptibilities change over time.”
Research topics include:
producing a database of genes that play a role in susceptibility to the environment
analysis of genes that respond to the environment by looking at their role in DNA repair, cell division, metabolism, homeostasis, cell signaling and cell cycle control
gaining a better understanding of legal, ethical and social aspects of environmental health
molecular epidemiology of environmental disease

18. STEPING INTO THE FUTURE
Human Genome Diversity Project
This is a controversial project aimed to map the differences between different racial and ethnic groups.
The HGD Project is an effort by anthropologists, geneticists, doctors, linguists, and other scholars from around the world to document the genetic variation of the human species worldwide.
The information will also be used to learn about human biological history, the biological relationships among different human groups, and may be useful in understanding the causes of and determining the treatment of particular human diseases.
The information this Project gathers may help clarify the history of specific human populations and of our species as a whole.
As far as scientists know, no particular genes make a person Irish or Chinese or Zulu or Navajo. These are cultural labels, not genetic ones. People in those populations are more likely to have some alleles in common, but no allele will be found in all members of one population and in no members of any other.

19. STEPING INTO THE FUTURE
Nutrigenomics
A new science promoting the understanding of a persons diet, their genetics, health and disease
It aims to help people to better manage their health by precisely matching their diets to their genetic makeup
Studying nutrigenomics will help people manage known genetic and dietry disorders such as diabeties or lactose intolerance
Understanding nutrigenomics will help link diet and disease with regard to diseases such as cancer, heart disease and obesity
Ray Rodriguez manages a new Nutrigenomics centre in the US and suggests that:
"The research we'll be doing in the Nutrigenomics Center is one of the first examples of taking the benefits of human genome research from the lab to the home."

20. STEPING INTO THE FUTURE
Ethical and Legal Issues
“We need to create the environment and tools needed by key decision makers in both the private and public sectors to carefully consider and respond to the challenges and opportunities that arise from scientific advances in genetics.”
The Genetics and Public Policy Center The Genetics and Public Policy Center Web Site
The Council for Responsible Genetics (Council for Responsible Genetics Web Site) fosters public debate about the social, ethical and environmental implications of genetic technologies.
The National Workrights Institute - Genetic Discrimination The National Workrights Institute Web Site The National Workrights Institute is a non-profit organization based in Princeton, NJ. They believe that all workers are entitled to their rights in the workplace.

21. STEPING INTO THE FUTURE
Ethical and Legal Issues – Some Important Questions
Who controls the genetic information discovered by the HGP?
Will rival commercial companies prevent each other and independent government researchers from developing new tests and therapies by withholding information and technological advances?
Will knowledge of our own genetic profiles allow us to avoid disease, or simply inform us of the inevitable and possibly early death? Many women who have the breast cancer gene are opting for double mastectomy even though they may never acquire breast cancer.
Will we be able to emotionally manage unwanted genetic profiles, or over react to ‘probabilities’ of possible disease.
Will our genetic profiles be used against us by employers, insurers and governments?

22. References Abbott, A. (2001) And now for the Proteome…Nature 409, 747.
Allan, R. and Greenwood, T. (2001) Year 12 Biology Student Resource and Activity Manual, Biozone International LTD.
DOEgenomics (2003) US Department of Energy – Department of Science. Retrieved from the site July 2004.
Graduate School VLAG Food Technology, Agrobiotechnology, Nutrition and Health Sciences (2004) Centre for Huma Nutrigenomics July 2004.
High Privacy Networks (2004) MyDNA. Retrieved from the site July 2004.
Morrison Institute ( 1999) Human Diversity Genome Project. Retrieved from the site July 2004.
National Institute of Environmental Health Science (2004) Environmental Genome Project. Retrieved from the site July 2004.

23. References
NuGO (2004) European Nutrigenomics Organisation. Retrieved from the site July 2004.
Stovall, A., Dean, A. and Chen, H. [no date] Richland College – Cellular Mechanism of Progeria. Retrieved from site July 2004.
University of California (2004) Nutrigenomics. Retrieved from site July 2004.
Forestry [no date] Frequently asked questions. Retrieved from the site July 2004.