THE HUMAN GENOME PROJECT

1. THE HUMAN GENOME PROJECT �The gene is by far the most sophisticated program around.� Bill Gates, CEO Microsoft

3.  Questions surround Mendel�s findings Mendel�s ideas seem obvious today. This was not the case in the past. No one had ever heard of a �gene� in Mendel�s time. Biologists previously failed to distinguish between heredity and development.

4. The Discovery DNA of �Inheritance insures the continuity informed from generation to generation that lies even deeper than the chemical molecule. It lies the structuring of atomic groups. In this sense, I am a supporter of the chemical heredity theory.�

5. The �Transforming Principle� Walter Sutton and Theodor Boveri independently came to the conclusion that chromosomes must be the factors that Mendel believed are passed on from parents to offspring.

6. The �Transforming Principle� Their ideas were later confirmed by Thomas Hunt Morgan. Using the Drosophila melanogaster (fruit fly) Morgan and his students (Morgan�s boys) found a correlation between the gene for eye color with the X chromosome.

7. Oswald Avery Experiment

8. The Secret of Life James Watson and Francis Crick discovered the double helix in 1953.

9. Advances in Genetics In 1973 Recombinant DNA procedures were introduced by Stanley Cohen and Herb Boyer At same time, Fred Sanger and Walter Gilbert developed a new way to determine the order of bases along the DNA molecules. The method was called Chain Termination Method

10. Genetic Sequencing Humans could now sequence the genome of any organism. By the early 1980�s. viral genome containing more than 100,000 bases and bacterial genomes containing more than a million bases become realistic objectives. Scientists began pondering the possibility of a �Human Genome Project�

11. Genetic Sequencing Currently, 100 prokaryotic and 18 eukaryotic genomes have been sequenced As more genetic information becomes available, pieces of our evolutionary past will come together.

12. Comparing the Human Genome with other Genomes Gene numbers of different species Humans: 31,000 Thale cress: 26,000 Nematode worm: 18,000 Fruit fly: 13,000 Yeast: 6,000 Tuberculosis microbe: 4,000

13. Comparing the Human Genome with that of Mus musculus (mouse) The human genome has about 400 million more nucleotides than the mouse. Humans and mice genetically diverged about 75 million years ago The human and the mouse genomes both have approximately 30,000 genes . (99% identical) There are only three hundred genes unique to either organism

14. Comparing the Human Genome with that of Mus musculus (mouse) Most of the nearly 150 genes unique to mice are linked with the sense of smell, which is highly developed in rodents, and with reproduction. Mice produce frequent large litters. The genomes of humans and mice are so similar that the best explanation for why a mouse develops into a mouse and not a human is that the genes are expressed at different times and possibly in different tissues.

15. Comparing the Human Genome with that of Pan troglodytes(Chimpanzees) Humans and chimps diverged from a common ancestor only about 5 million years ago. Preliminary sequence comparisons indicate that chimp DNA is 98.7% identical with human DNA. If just the gene sequences encoding proteins are considered, the similarity increases to 99.2%.

16. How could two species differ so much in body and behavior, and yet have almost equivelent sets of genes? Observations reveal that chimp and human genomes show very different patterns of gene transcription activity, at least in brain cells. Humans have one less chromosome than chimpanzees, gorillas, and orangutans. It�s not that we have lost a chromosome. At some point in time, two mid-sized ape chromosomes fused to make what is now human chromosome 2, the second largest chromosome in our genome.

17. Applications of Genetic Information

18. Ways of gathering genetic information One can gather genetic information in various ways. It can be acquired via a family's medical history or during a routine physical exam. Genetic info can also be gathered through common lab tests that measure the production of certain substances. The most accurate approach is through DNA. Different genetic tests identify explicit DNA characteristics.

19. Ethical and Societal Implications:Genetic Discrimination Examples of discrimination: workplace, insurance, military, etc� A survey conducted in 1996 of individuals at risk of developing a genetic disorder, showed that they were discriminated against over 20 percent of the time. Another recent study conducted by genetic counselors showed that over 500 people lost their job based upon new knowledge of their genetic info to their employers. In 1995 a poll showed that over 80 percent of Americans were at least somewhat concerned that genetic information would get into the �wrong hands� and would either cost them more in insurance money or an employment opportunity.

20. Ethical and Societal Implications An 18-year-old man, who could potentially develop Huntington's disease from one of his parents refused to get tested. Why? He wanted to serve in the United States Armed Forces and was afraid that the recruiters would prevent him from joining. This would ultimately keep him out of the Persian Gulf War. When the question regarding hereditary disorders on his application asked about Huntington's disease in his family medical history he replied with an answer of �no�.

21. Ethical and Societal Implications:Gene Patenting In June 2000, the human genome was mapped and thousands of investors, scientists, etc. requested patents for genes and varying pieces of gene sequences. The total number of "working" human genes is estimated to be somewhere between 25,000 and 100,000, it represents approximately three and a half percent of the total human genome. The rest of the genetic information is made up of �junk� DNA. The ownership of information now may greatly �payoff� for the person that owns it later because when the function is eventually determined it may be of great importance.

22. Ethical and Societal Implications:Resulting Laws The need for federal protection has been recognized by Congress with the introduction of numerous bills with bipartisan support. Three stand-alone bills have been introduced that amend existing civil rights or labor laws to protect workers against employment discrimination based on genetic information (S. 1045, Sen. Daschle; H.R. 2275, Rep. Lowey; H.R. 2215, Rep. Kennedy). Two additional bills have been introduced that include worker protections against discrimination based on genetic information, as part of broader proposals addressing the use of genetic information (S. 422, Sen. Domenici; H.R. 2198, Rep. Stearns). (4)

23. Ethical and Societal Implications:Resulting Laws In January 2001, the United States Patent and Trademark Office released an 1100 page set of guidelines aimed at stopping companies� from patenting genes that were sequenced before creating a particular applied use for them.

24. The human genome can teach us: About basic process of life; About genetic diseases that affect some people and not others; And gives us an insight on how to treat devastating diseases like Alzheimer�s and cancer.

25. Why study the HGP? The identification of genes will aid in the diagnosis, treatment, and prevention of many of our more common ailments, including high blood pressure, heart disease, diabetes, mental illness such as schizophrenia, and some types of cancers.

26. Insulin Gene The insulin gene was the first pharmaceutical product made using recombinant DNA technology.

27. a1 Milano gene The normal gene has gone through a point mutation which caused a different amino acid to be added. The new amino acid causes the whole protein to fold differently In the case of this mutation, the new protein became more effective.

28. Cancer One in 4 people will die of cancer, and researches all over the world are competing in the race to beat such a terrible disease. Some researches believe that the cure for cancer lies hidden in our genome.

29. Oncogenes RAS malfunction is one of the most common causes of cancer since it sends signal for division. When RAS goes berserk, the p53 gene, which is a tumor suppressant gene, activates defensive enzymes that stop incorrect growth signals sent by the RAS oncogene.

30. Gene Therapy Gene therapy an approach where the gene is the drug, and we are trying to deliver the drug, or gene, to a particular part of the body of patients with the gene defected. Uses p53 protein to make cancerous cell to commit apoptose.

31. Li-Fraumeni syndrome A person that inherits only one functional copy of the p53 gene from their parents, then they are predisposed to cancer and usually develop several independent tumors in a variety of tissues in early adulthood

32. Gene Therapy Gene therapy an approach where the gene is the drug, and we are trying to deliver the drug, or gene, to a particular part of the body of patients with the gene defected

33. Have We Found The Fountain Of Youth? Cell can only divide so many times before it cannot do so any more because the telomere at end of chromosome becomes used up every time the cell divides. In other words, aging and the age people live until is written in our genes.

34. How can the HPG impact us in the near future? Pharmacists are already working on the development of drugs tailored to each individual's genetic makeup. In other words, doctors will be able to pick the medication that would work best for an individual. This should optimize the treatment while reducing the side effects

35. How can the HPG impact us in the near future? Currently, however, we do not have the technology available to replace malfunctioning gene.