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

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Presentation on theme: "HUMAN GENOME PROJECT Dr. Aslı Tolun Dept. of Molecular Biology and Genetics Boğaziçi University."— Presentation transcript:

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 3.3 billion 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: 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: < (Earlier guess: ) 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 Balat Or-Ahayim Hastanesi 14 Mart 2010 Waardenburg Syndrome

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

18 29 Eylül 2009 Kocaeli Üniversitesi 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

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 Balat Or-Ahayim Hastanesi 14 Mart 2010 TRANSGENIC ANIMALS Rat 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 1:50 1:10,000 7 x 1:1,000 1:4 million 126 x 1:50,000 1:10 billion 6251 x

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25 Split Hand/Foot Malformation - AR

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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 with HUMAN 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 Children’s rights 2001 Genetics and discrimination 1998 Human Genome and Human Rights Universal Declaration

33 UNESCO 1997 Universal Declaration on the 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 Individual’s advantage should come before that of society and community Individual’s 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 yrs Sufficiently-informed A copy of the informed consent form The right to withdraw consent Research to be initiated after consent

38 PARTICIPANT’S RIGHTS To know and not to know Psychological support Access to treatment and cure

39 MINORS’ RIGHTS 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 ‘Designer’s baby’.

43 KAYNAKÇA Avrupa Birliği: Avrupa’da Genetik ve Kamu ve Profesyonel Politikalar Avrupa Konseyi – Genetik testin etik, yasal ve sosyal açılımları üzerine 25 Öneri ve diğer öneriler ABD Ulusal Sağlık Enstitüleri Sağlık ve İnsan Servisleri Araştırma Risklerinden Koruma Ofisi Helsinki Bildirgesi, Dünya Tıp Birliği İngiltere Genetik Test için Danışma Komitesi ttp://www.doh.gov.uk/genetics/recrev3.htm ttp://www.doh.gov.uk/genetics/recrev3.htm Nürnberg İlkeleri UNESCO uluslararası bildirgeler İnsan Hakları Taraftarı Tüm Avukat ve Hekimler ABD Başkanlık Biyoetik Kurulu İngiltere İnsan Genetiği Komisyonu Genetik Araştırma ve Uygulamada Etik. TÜBA Yayınları


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