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HUMAN GENOME PROJECT

HUMAN GENOME PROJECT. Dr. Aslı Tolun Dept. of Molecular Biology and Genetics Boğaziçi University. DNA helix. GENETICS. Chemical molecule: a DNA chain 4 types of nucleotides (A, G, C, T) DNA codes for proteins Example: insulin gene → insulin hormone. FLOW of GENETIC INFORMATION.

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HUMAN GENOME PROJECT

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  1. HUMAN GENOME PROJECT Dr. Aslı Tolun Dept. of Molecular Biology and Genetics Boğaziçi University

  2. DNA helix

  3. GENETICS • Chemical molecule: a DNA chain • 4 types of nucleotides (A, G, C, T) • DNA codes for proteins • Example: insulin gene → insulin hormone

  4. FLOW of GENETIC INFORMATION • DNA → codes for proteins • DNA: ATGGCCTTAGATCATAGG • Coding: ATGGCCTTAGATCATAGG • Protein aa1 aa2 aa3 aa4 aa5 aa6

  5. GENOME:total genetic information 3.3billion nucleotides 99.9% are same in all 24 chromosomes (24 DNA molecules) Human Genome Project Total DNA sequence (=>genes) Proteomics Functions of all genes (proteins)

  6. PROTEOMICS WHY study it: Scientific curiosity Human evolution Interaction of environment with genetics Basis for inherited disorders

  7. The PROJECT 1986 proposed 1990 initiated April 2003 ‘completed’ (2005) April 2004 Mistakes 1:100 000 Today almost complete

  8. INTERNATIONAL COLLABORATION USA, ENGLAND, FRANCE, GERMANY, JAPAN, CHINA: 20 research centers

  9. PURPOSE • All of DNA sequence • Sequences of all genes • Functions of all genes • Establishment of data bases • Develeopment/improvement of techniques • Ethical, legal and social issues

  10. WHY STUDY GENOMICS? • Scientific curiosity • Human evolution • Interaction of genetics and environment • Genetic basis of inherited diseases • Prevention (genetic councelling) • Developing therapeutic means

  11. FIRST RESULTS 2003 • Genes constitute about 5% of the genome • Genes: < 30 000. (Earlier guess: 80 000) • Half are “unknown genes” • About 99.9% are same in all individuals • A difference of about 3 million nucleotides -> Susceptibilities to diseases?

  12. MAJORITY OF OUR GENES ARE SHARED • 21% – by all organisms • 32% – by all eukaryotes • 24% – by all animals • 22% – by only vertebrates • 1% – only in “humans”

  13. SIMILARITY TO OTHER SPECIES Genes: 99% shared by mouse (diverged 75 million years ago) 61% shared by fruit fly (Drosophila) 43% with a small nematode (diverged 500 million years ago)

  14. COMPARATIVE GENOMICS Chimpanzee, gorilla, monkeys, mouse, rat, cow, dog, chicken, fish, primitive vertebrates, bee, mosquito, fruit fly, nematode, yeast, plants, bacteria etc.

  15. UNDERSTANDING GENE FUNCTION • NUCLEOTIDE SEQUENCE (domains) • SIMILARITY TO OTHER GENES • ANIMAL MODELS • GENETIC DISEASES

  16. Waardenburg Syndrome Balat Or-Ahayim Hastanesi 14 Mart 2010

  17. Leptin gene knock-out mouse Balat Or-Ahayim Hastanesi 14 Mart 2010

  18. BRAIN ENLARGEMENT • 1.23% difference between genes, h vs chimp • Brain/body weight ratio: 3x larger in humans • “Microcephaly genes” identified: • ASPM gene: very different from chimp’s • MCPH1 gene: diverged early Kocaeli Üniversitesi

  19. PRACTICAL USE of HGP? An example 60% of our genes are similar to fruit fly’s Similarly, 2/3 of our ‘cancer genes’ ‘Parkinson gene’ to fruit fly  disease

  20. RESEARCH EXAMPLES Evolution of stomach ulcer bacterium Origin of American dog Evolution of crops Domestication of animals

  21. TRANSGENIC ANIMALSRat growth hormone to mouse Balat Or-Ahayim Hastanesi 14 Mart 2010

  22. DISEASE GENE HUNT BENEFITS: Scientific Families Prevention (Genetic counseling) Developing therapeutic interventions

  23. FREQUENCY OF DISEASES RECESSIVES ARE VERY FREQUENT Carrier Patient Increase in freq. freq. cousin marriage 1:50 1:10,000 7 x 1:1,000 1:4 million 126 x 1:50,000 1:10 billion 6251 x

  24. Split Hand/Foot Malformation - AR

  25. ETHICS Universal values: • Honesty / integrity • Awareness of responsibilities and duties • Respect for human rights and dignity • Respect for others’ rights

  26. STUDENT ETHICS NOT CHEATING in • Exams • Homeworks • Reports FOR THESIS WORK: • Obligatory course on bioethics • Learn research ethics • Ethical review for research

  27. HGP ETHICAL ISSUES • No discrimination • Respect to privacy • Confidentiality of data • Informing the subject • Informed consent form • Help to cope with psycological effects • Patents, ownership, etc.

  28. Genetic studies withHUMAN PARTICIPANTS • Medical applications • Genetic applications • Research

  29. UNESCO Declarations and Resolutions • 1948 Human Rights Universal Declaration • Agreements against discrimination: 1965 Racial discrimination 1979 Discrimination against women 1989 Children’s rights 2001 Genetics and discrimination • 1998 Human Genomeand Human Rights Universal Declaration

  30. UNESCO 1997 Universal Declaration onthe Human Genome and Human Rights Human genetic data: • Obtaining • Processing • Use • Storage

  31. UNESCO 2005 Universal Declaration onBioethics and Human Rights Respect to: • Human dignity • Human rights • Basic freedom.

  32. ETHICAL PRINCIPLES • Apply for all individuals without discrimination • Individual’s advantage should come before that of society and community • Individual’s benefit should be maximized while any potential harm is minimized.

  33. ETHICAL COMMITTEE REVIEWS • Institutional ethical review boards • A national ethical council

  34. OBTAINING CONSENT • Without pressure, on free will • Those not competent.... • Children 11-18 yrs • Sufficiently-informed • A copy of the informed consent form • The right to withdraw consent • Research to be initiated after consent

  35. PARTICIPANT’S RIGHTS • To know and not to know • Psychological support • Access to treatment and cure

  36. MINORS’ RIGHTS • 11-18 yrs: consent • Genetic testing – only if a ‘good reason’ • Should the parents know the results? • At what age should the result be told? By whom?

  37. RESPONSIBILITIES of the STATE • National ethics councils • Sufficient ethics training for workers • Inform relevant UNESCO committees about whether the declarations are followed in the country.

  38. CONTROVERCIAL ISSUES • Gene therapy • Sex selection in embryo (male/second) • Embryo selection for histocompatibility • Embryo selection for a trait (deafness) • Filing of the genetic data by the state • Availability of that data.

  39. FUTURE SENARIOS • Obligation for prenatal genetic testing • Obligatory genetic testing for “aggressivity” • Genetic classification in athletes • Insurance companies’ demands • Demands of the employer • ‘Designer’s baby’.

  40. KAYNAKÇA Avrupa Birliği: Avrupa’da Genetik ve Kamu ve Profesyonel Politikalar http://europa.eu.int/comm/research/biosociety/pdf/bmh4_ct98_0550_partb.pdf Avrupa Konseyi – Genetik testin etik, yasal ve sosyal açılımları üzerine 25 Öneri ve diğer önerilerhttp://ec.europa.eu/research/science-society/ ABD Ulusal Sağlık Enstitüleri Sağlık ve İnsan ServisleriAraştırma Risklerinden Koruma Ofisihttp://ohrp.osophs.dhhs.gov/humansubjects/guidance/45cfr46.htm Helsinki Bildirgesi, Dünya Tıp Birliğihttp://www.wma.net/e/policy/b3.htm İngiltere Genetik Test için Danışma Komitesi ttp://www.doh.gov.uk/genetics/recrev3.htm Nürnberg İlkelerihttp://ohsr.od.nih.gov/nuremberg.php3 UNESCO uluslararası bildirgelerwww.unesco.org İnsan Hakları Taraftarı Tüm Avukat ve Hekimlerhttp://www.glphr.org ABD Başkanlık Biyoetik Kuruluhttp://www.bioethics.gov İngiltere İnsan Genetiği Komisyonuhttp://hgc.gov.uk Genetik Araştırma ve Uygulamada Etik. TÜBA Yayınlarıhttp://www.tuba.gov.tr/

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