1. A person s entire genetic code can fit on a flash drive. True or false

Transcription

1 Cracking Your Genetic Code Homework Assignment due 09/05/14 (5 PM) credit 15 pts Go to: & answer these: 1 A person s entire genetic code can fit on a flash drive True or false 2 Is genetic code really the best descriptor for what the show is talking about? Y or N 3 If you answered N to question #2, what would be a better descriptor? 4 What advice were ancient Greeks given, and how does that relate to the name on the flash drive? 5 According to Gregory Stock, We are entering an era of 6 Who is Andrew Schmitz, and what symptoms did he display? 7 When Andrew s DNA was sent to a company for sequencing, what was done to the DNA to make it easier to sequence? 8 How long did it take and how much did it cost to complete the 1 st human genome sequence (not Andrew s)? How long? How many $ 9 What happens if DNA is copied incorrectly? 10 Does Dr Jacob think it is possible that Andrew might have a genetic problem for which no treatment exists? Y or N (Circle one) 11 Some companies provide partial genome sequencing What is the name of one of the best known of these companies? 12 How many sites are analyzed with the gene chips used by this company? 13 What odds were given for Jay Adelson someday developing Parkinson s? 14 How many DNA analysis companies allow you to go directly to them to get genotyping analysis done without requiring a doctor s referral? 1

2 15 Francis Collins had DNA analyses done by three different companies What disease did the analysis suggest he was at risk for, and how did he alter his life style to improve his odds of not getting this disease? 16 Were the data from all three companies in agreement about all of his health risks? Explain your answer briefly 17 What was Dr Tanzi s explanation for the results Dr Collins received? 18 Is it common for there to be a very tight linkage between a specific mutation and a disease? Elaborate very briefly Y or N 19 There is a subset of disease related genes that are very likely to make you sick, even if you only have one of them These are disease genes 20 Who is Megan Sullivan? 21 What three characteristics were listed as being caused by Megan s disease? 22 What genetic change causes Meagan s disease? 23 Why did Katie Moser decide to get tested for the disease? 2

3 24 How did some of her relatives respond to her decision? 25 What mutation did Catherine Elton consider being tested for, and what disease did her mother, grandmother, and aunt all die from? 26 What reasons did Ms Elton give for deciding not to be tested? 27 What statement does Ms Elton make about the risks and benefits of genetic testing? 28 What is an actionable gene? 29 Would you consider the Huntington s gene to be an actionable gene at the current time? Y or N 30 Give two examples of actionable genes: & 31 How many actionable genes had scientists identified at the time this program was made? 32 Back to Andrew Schmitz for a moment: a) How long did it take to sequence his genome and how expensive was it? b) Solve the following for x: x time to sequence 1 st human genome = 1 time to sequence Andrew s genome x = c) Solve the following for z: z cost to sequence 1 st human genome = 1 cost to sequence Andrew s genome z = 33 What is a meaningful variant for Andrew? 34 Another young man, Nicholas Volker, had a genetic health problem What gene (and on what chromosome ) was responsible for Nick s health problems? 35 To what disorders was this gene linked? 3

4 36 What mutation (base change) was responsible for Nick s disease? 37 What treatment appears to have saved Nick? 38 From what disease was Michael McCarrick suffering? 39 What drug is/was Michael taking, and what does it target? 40 What letters are CF patients lacking, in what gene, and on which chromosome is this gene located? 41 CF is a recessive disorder Does it appear to fit in the category of diseases called loss-of-function genetic diseases? Y or N 42 What leads to lung infections in CF patients? 43 Why does Michael McCarrick s outcome from taking Kalydeco seem less likely to be positive than that for Paul Glynn? 44 Paul does appear to be showing real improvement in his health as a result of taking Kalydeco? a) What figure is given as a possible annual cost for Kalydeco? b) At this price, what would it cost Paul to take this drug for 20 years? (Show calc) c) (Information not from the Nova program:) Approximately 1,000 new cases of CF are diagnosed per year in the US Only about 5% of these people have the mutation (G551D) for which Kalydeco use has been approved In the space below, calculate how many people are diagnosed per year in the US with the G551D mutation 4

5 d) In the space below calculate how much it would cost [(using your estimate from b)] to supply the people diagnosed in one year in the US [your value from c), above] for 20 years of their life 45 What is the most common disease of the genome? 46 What type of cancer did Tom Garpestad develop? 47 When it is discovered that a melanoma patient s cancer has spread, how long do they have to live? 48 What term is used to describe the process of cancer cells spreading from one location to other sites in the body? 49 If the genome of a healthy human had already been sequenced, why was it considered interesting and possibly useful to sequence all of the genes (the genome) of a melanoma cell? 50 What gene was described in the program as being the melanoma gene, on what chromosome is this gene located, and how does the mutation influence the behavior of the protein that this gene codes for (ie, it s gene product) 51 Did Tom have the mutation indicated above in #50? Y or N 52 A drug (Zelboraf) has been developed to treat Tom s form of cancer How does this drug work? 53 What kind of cells does this drug kill? 5

6 54 After taking the drug, how long did it take Tom to get from a near death state back to his regular life? 55 Does melanoma return in some patients that initially appear to be cured by the drug? Y or N 56 In one word, what can cancer cells do to overcome the effects of the drug? 57 Briefly, how does Tom respond to the news that his cancer appears to be coming back? 58 How many months of quality life are patients getting from the drug treatment? 59 How are genome studies being used by breast cancer patients and their doctors to help make treatment decisions? 60 At what cell stage in embryo development is a single cell removed from the embryo to determine if is contains a genetic disease? Circle one: Give the name (& initials) of this procedure: ( ) 62 How many diseases are Mark Hughes and his team testing for? 63 Can this procedure be used to determine gender? Y or N 64 Why won t it be possible to use PDG to select for general desirable traits (like height) any time soon? 65 Briefly, how did the Beery twins parents know their children had a health problem? 66 What was the original diagnosis for the twins? 6

7 67 What happened to Alexis around age 5 that suggested the original diagnosis might be wrong? 68 What was Retta Beery s response to Alexis worsening condition? 69 What was the treatment for the rare condition Mrs Beery read about that mimicked your answer in #68? 70 For what human function is the compound you listed in #69 above required? 71 How did Alexis respond to the treatment re #69? 72 Did the twins still have health problems? Y or N 73 What did Joe Beery (the father) do in response to Alexis continuing problems? 74 What was discovered about Alexis from the answer to #73? And what occurred as a result? 75 What does Joe indicate saved Alexis and Noah s lives? 76 What does Joe think would have been different if the twins had the procedure indicated in #75 at birth? 77 Briefly, what factors are listed as downsides to whole genome sequencing early in life? 7

8 Back to Andrew 78 What did geneticist Elizabeth Worthy find in Andrew s genome? 79 Did this finding lead to a cure for Andrew? Y or N 80 Briefly, what happened longer term with: Michael McCarrick Paul Glynn Tom Garpestad Alexis & Noah Beery 81 What does Dr Collins give as an important reason to know your genome? Finally, things you might want to consider, but the answers of (to?) which are not part of this assignment Not for credit issues to consider on your own: What would you do if you were in Katie Moser s place? What would you do if you were in Catherine Elton s place? (Re tamoxifen/raloxifene?) If you had a loss-of-function genetic disease, would that influence your choice of a mate? If you had a loss-of-function genetic disease, would that influence your interest in having children? Would you consider using PGD if you and your mate were heterozygous for the same loss-of-function disease? If you had a dominant genetic disease (like Huntington s), would that influence your interest in having children? Has learning about these people changed your level of interest in genetics? Would you like to have your genome sequenced? If your answer to the above question was yes, how much would you consider to be a reasonable amount to pay for the sequencing? 8