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HUMAN GENOME PROJECT

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HUMAN GENOME PROJECT Dr. Asl Tolun Dept. of Molecular Biology and Genetics Bo azi i University UNESCO 2005 Universal Declaration on Bioethics and Human Rights ... – PowerPoint PPT presentation

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Title: HUMAN GENOME PROJECT


1
HUMAN GENOME PROJECT
  • Dr. Asli Tolun
  • Dept. of Molecular Biology and Genetics
  • Bogaziçi 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
GENOMEtotal genetic information
  • 3.3 billion nucleotides
  • 99.9 are same in all
  • 24 chromosomes (24 DNA molecules)
  • Human Genome Project
  • Total DNA sequence (gt 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 1100 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 lt 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
  • -gt 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
17
Leptin gene knock-out mouse
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 chimps
  • MCPH1 gene diverged early

19
PRACTICAL USE of HGP?
  • An example
  • 60 of our genes are similar to fruit flys
  • 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
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
  • 150 110,000 7 x
  • 11,000 14 million 126 x
  • 150,000 110 billion 6251 x

24
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25
Split Hand/Foot Malformation - AR
26
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27
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28
ETHICS
  • Universal values
  • Honesty / integrity
  • Awareness of responsibilities and duties
  • Respect for human rights and dignity
  • Respect for others rights

29
STUDENT ETHICS
  • NOT CHEATING in
  • Exams
  • Homeworks
  • Reports
  • FOR THESIS WORK
  • Obligatory course on bioethics
  • Learn research ethics
  • Ethical review for research

30
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.

31
Genetic studies withHUMAN PARTICIPANTS
  • Medical applications
  • Genetic applications
  • Research

32
UNESCO Declarations and Resolutions
  • 1948 Human Rights Universal Declaration
  • Agreements against discrimination
  • 1965 Racial discrimination
  • 1979 Discrimination against women
  • 1989 Childrens rights
  • 2001 Genetics and discrimination
  • 1998 Human Genome and Human Rights Universal
    Declaration

33
UNESCO 1997 Universal Declaration onthe Human
Genome and Human Rights
  • Human genetic data
  • Obtaining
  • Processing
  • Use
  • Storage

34
UNESCO 2005 Universal Declaration on Bioethics
and Human Rights
  • Respect to
  • Human dignity
  • Human rights
  • Basic freedom.

35
ETHICAL PRINCIPLES
  • Apply for all individuals without discrimination
  • Individuals advantage should come before that of
    society and community
  • Individuals benefit should be maximized while
    any potential harm is minimized.

36
ETHICAL COMMITTEE REVIEWS
  • Institutional ethical review boards
  • A national ethical council

37
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

38
PARTICIPANTS RIGHTS
  • To know and not to know
  • Psychological support
  • Access to treatment and cure

39
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?

40
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.

41
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.

42
FUTURE SENARIOS
  • Obligation for prenatal genetic testing
  • Obligatory genetic testing for aggressivity
  • Genetic classification in athletes
  • Insurance companies demands
  • Demands of the employer
  • Designers baby.

43
KAYNAKÇA
  • Avrupa Birligi Avrupada 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 açilimlari üzerine 25 Öneri ve diger
    öneriler http//ec.europa.eu/research/science-soci
    ety/
  • ABD Ulusal Saglik Enstitüleri Saglik ve Insan
    Servisleri Arastirma Risklerinden Koruma Ofisi
    http//ohrp.osophs.dhhs.gov/humansubjects/guidance
    /45cfr46.htm
  • Helsinki Bildirgesi, Dünya Tip Birligi
    http//www.wma.net/e/policy/b3.htm
  • Ingiltere Genetik Test için Danisma Komitesi
    ttp//www.doh.gov.uk/genetics/recrev3.htm
  • Nürnberg Ilkeleri http//ohsr.od.nih.gov/nuremberg
    .php3
  • UNESCO uluslararasi bildirgeler www.unesco.org
  • Insan Haklari Taraftari Tüm Avukat ve Hekimler
    http//www.glphr.org
  • ABD Baskanlik Biyoetik Kurulu http//www.bioethics
    .gov
  • Ingiltere Insan Genetigi Komisyonu
    http//hgc.gov.uk
  • Genetik Arastirma ve Uygulamada Etik. TÃœBA
    Yayinlari http//www.tuba.gov.tr/
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