Topic 1: Genetic disease/ Genome research

1. Topic 1: Genetic disease/ Genome research

2. Readings: • Unit 8 Cardiovascular Disease p.97~110 • Sequence sharing (Nature)

3. keywords • cardiovascular disease (CVD) (n. phr.)心血管疾病: diseases relating to the heart and blood vessels • Gene • genome

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

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

6. Please read all words loudly coronary heart disease (n. phr.)冠狀動脈心臟病 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.)周邊動脈疾病 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.)風溼性心臟病 diseases caused by stiffness and pain in the joints (= places where two bones are connected) or muscles of the body

7. More words (5) congenital heart disease (n. phr.)先天性心臟病 heart diseases existing at or from birth (6) atherosclerosis (n.)動脈粥狀硬化 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.)人工心臟瓣膜 a device, either external or implanted, that substitutes for or supplements a missing or defective part of the heart (8) balloon angioplasty (n. phr.)氣球擴張術 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 device (9) coordination (n.) harmonious combination or interaction, as of functions or parts.

8. 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? )

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

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

11. 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.

12. Discussion (2) How heart diseases discussed in Unit 8 are genome-related?

13. Supplementary Reading Read, Think, and Reflect!

14. 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

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

16. 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.)藥物基因學 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)

17. 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.

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

19. V. S.

20. 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

22. 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 use—genomic information sharing and its privacy protection.

23. Paradox! • All information published in the Internet should be kept confidential. • Don’t disclose this widespread secret!

24. 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.

25. 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.

26. 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)

27. Conclusion • 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 information.

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

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

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

31. Life is short; art is for ever. ~Hippocrates