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Topic 1: Genetic disease/ Genome research


Topic 1: Genetic disease/ Genome research – PowerPoint PPT presentation

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Title: Topic 1: Genetic disease/ Genome research

Topic 1 Genetic disease/ Genome research
  • Unit 8 Cardiovascular Disease p.97110
  • Sequence sharing (Nature)

  • cardiovascular disease (CVD) (n. phr.)?????
    diseases relating to the heart and blood vessels
  • Gene
  • genome

Greek etymology
  • cardi0- heart
  • Cardiogram
  • cardioscope
  • Vascular- blood vessels
  • vasculitis
  • vaculotoxic
  • Gene- beginning
  • Genesis, genetics
  • pathogenesis

Brainstorming! (Discussion 1)
  • Why have many countries made large investments
    in medical programs for the prevention of heart

Please read all words loudly
  • coronary heart disease (n. phr.)???????
  • an extremely dangerous medical condition in
    which the flow of
  • blood to the heart is blocked by a blood
    clot ( a mass of blood)
  • peripheral artery disease (n. phr.)??????
  • diseases relating to one of the larger
    tubes that carry blood from the heart
  • to other parts of the body
  • rheumatic heart disease (n. phr.)??????
  • diseases caused by stiffness and pain in
    the joints ( places where two
  • bones are connected) or muscles of the

More words
  • (5) congenital heart disease (n. phr.)??????
  • heart diseases existing at or from birth
  • (6) atherosclerosis (n.)??????
  • a condition in which fatty material builds
    up inside the arteries and
  • narrows the lumen, or the inner space
    through which blood flows
  • (7) prosthetic valve (n. phr.)??????
  • a device, either external or implanted, that
    substitutes for or
  • supplements a missing or defective part of
    the heart
  • (8) balloon angioplasty (n. phr.) ?????
  • The repair of a blood vessel, as by
    inserting a balloon-tipped catheter to
  • unclog it or by replacing part of the
    vessel with either a piece of the
  • patient's own tissue or a prosthetic
  • (9) coordination (n.)
  • harmonious combination or interaction, as
    of functions or parts.

Unit 8. Cardiovascular Diseases a summary
  • CVD is a complex group of chronic diseases
    involving the heart and blood vessels.
  • Globally, it is the number one cause of death,
    representing 29 of all deaths. (estimated
    numbers? )

CVD risk factors?
  • - aging, smoking, high blood pressure, diabetes,
    physical inactivity, and stress

Common symptoms
  • discomfort or pain
  • shortness of breath
  • feeling of sick
  • faint
  • Nauseous
  • having cold sweats
  • appear pale

Prevention and treatment
  • should avoid an unhealthy diet, physical
    inactivity, excess weight gain, tobacco use,
    second-hand smoke, and foods high in fat, sugar,
    and salt.

Discussion (2)
  • How heart diseases discussed in Unit 8 are

Supplementary Reading
  • Read, Think, and Reflect!

Vocabulary 1-4
  • (1) underpin (v.)
  • to prop up or support from below
    strengthen, as by reinforcing a
  • foundation
  • (2) give a glimpse (v. phr.)
  • see the light of hope
  • (3) vie/ vying (v.)
  • to compete with
  • (4) be fraught with (v. phr.)
  • be filled with

Vocabulary 5-8
  • (5) futile (a.)
  • useless, not helpful
  • (6) agonize (v.)
  • to suffer extreme pain or anguish be in
  • (7) veracity (n.)
  • correctness or accuracy, as of the
    senses or of a scientific instrument
  • (8) deluge (n.)
  • anything that overwhelms like a flood

Vocabulary 9-12
  • (9) reconcile (v.)
  • to cause (a person) to accept or be
    resigned to something not desired
  • (10) onus (n. phr.)
  • a difficult or disagreeable obligation,
    task, burden, etc.
  • (11) pharmacogenomics (n.)?????
  • the study of human genetic variability
    in relation to drug action and its
  • application to medical treatment
  • (12) divulge (v.)
  • to disclose or reveal (something
    private, secret, or previously unknown)

p.s. phenotype
  • A phenotype (from Greek phainein, 'to show'
    typos, 'type') is the composite of an organism's
    observable characteristics or traits, such as its
    morphology, development, biochemical or
    physiological properties, phenology, behavior,
    and products of behavior (such as a bird's nest).
    Phenotypes result from the expression of an
    organism's genes as well as the influence of
    environmental factors and the interactions
    between the two.

Main Concern
  • Through discussing two books, Kevin Daviess The
    1,000 Genome and Misha Angrists Here is a Human
    Being, Peter Border questions how we can protect
    our personal genomic data while making them
    available for research.

V. S.
Two perspectives
  • Scientific v.s. personal and political
  • Both (V) improve the usefulness of genome data
    for healthcare
  • Neither (X) practical application and genomic
    privacy and security

(No Transcript)
Main Idea
  • Despite the growth of personal genomics and its
    implications which are mentioned in the two
    books, we cannot overlook one major obstacle in
    the research of genomics and its practical
    usegenomic information sharing and its privacy

  • All information published in the Internet should
    be kept confidential.
  • Dont disclose this
  • widespread secret!

Supporting details (1)
  • On one end of the spectrum of genomic information
    sharing is that some are willing to reveal not
    only their genomic data but also to share the
    information related to their health, living
    environment and family background.

Supporting details (2)
  • On the other end is people who entrust companies
    to test and save their genome information, but
    they prefer to retain the control over the issue
    about who can see the information. So, the
    information is less accessible to researchers.

Supporting details (3)
  • Two ways to ease the problem of genomic
    information sharing one is through genomic
    companies to recruit customers into research
    projects the other is through national or
    regional health-care systems concerned with
    disease prevention to offer genomic tests on a
    more systematic basis. (The UK Biobank model)

  • An open question the accumulation and
    interpretation of genome databank.
  • A reminding Even with great amount of genome
    data alone, it will not be useful unless we have
    the health, life-style and family information of
    the people who have given their genome

Discussion (3)
  • According to the Personal Genome Project, why
    does the genomic research impinge upon the
    privacy issue?

Discussion (4)
  • In paragraph 3, the author (Davies) wrote, He
    acquaints us with DNA microscopes, nanopores and
    ion sensors, techniquesfor a few hundred
    dollars. What does the sentence imply?

Discussion (5) The Greatest Puzzle Genome
  • What will be the greatest challenge in making
    genome studies practical?

Life is short art is for ever. Hippocrates