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LESSON PLAN Current Genetic Research Subject/Course: Grade 11 Academic SBI3U Concept: Examining recent genetic research Date: January , 2012 Time Period: 75 min. BIG IDEA: Research in genetics is expansive and has implications in many scientific fields LEARNING GOALS: To consider the ways in which genetic research is reported in the media and the significance To examine current articles on genetic research, including contributions from Canadian scientists To gain an appreciation for the widespread implications of genetic research in various fields To summarize and analyze articles in science and communicate ideas OVERALL EXPECTATIONS: D1. Evaluate the importance of some recent contribution to our knowledge of genetic processes. D3. Demonstrate an understanding of concepts and processes related to the transmission of hereditary characteristics. SPECIFIC EXPECTATIONS: describe and analyse examples of genetic technologies that were developed on the basis of scientific understanding (e.g., the improvement of an experimental procedure to extract DNA from bacterial or plant cells) identify and describe examples of Canadian contributions to knowledge about genetic processes (e.g., research into cystic fibrosis) and to technologies and techniques related to genetic processes (e.g., the invention of nuclear magnetic resonance [NMR]) PRIOR KNOWLEDGE Students have an understanding of terms such as gene, allele, chromosome, DNA, genome, and mutation Students have knowledge of genetic processes such as mitosis and meiosis REQUIRED MATERIALS Handout- Minds On article Science Daily articles (approximately 5 packages of 5 articles, 1 for each group) STSE Assignment handout STEP BY STEP DESCRIPTION: Step Details Ask questions about the term “ genohype” Have students Think-Pair-Share about pros and cons of media involvement in genetic research Classroom Discussion Distribute abstract of article “Do the print media “hype” genetic research? A comparison of newspaper stories and peer-reviewed research papers” (Appendix B) Assessment for Read the article together, using volunteer or chosen readers learning through classroom discussion Discuss reactions and opinions on results and implications of the study (Appendix A) Minds On Activity Group work- Jigsaw Divide class into “home” groups and distribute a package with all 5 articles Have each person in the home group select an article and move into that “expert” group In their expert groups students read their article and make a summary, including the main idea and implications of the research After expert groups have completed their summaries (~25 min) students return to their home group and each person shares the summary of their article (~20 min) Teacher will circle the room to ensure that groups stay on task and answer any questions if needed As a class have students share what they found most interesting among the articles and why it is important to keep informed about these issues Classroom Discussion Handout outline for STSE assignment (if time) Assessment for learning, through classroom discussion. Consolidation Time (min) 10-15 min. 45-50 min. 15 min. ASSESSMENT FOR AND AS LEARNING: Informal assessment will take place throughout the classroom discussions Informal assessment will also take place during the group work activity. The main ideas of this lesson will be addressed in the STSE assignment will be evaluated based on student’s research and presentation Appendix A - Teacher Notes Minds On Any ideas what is meant by the term “genohype”? - “hyped” portrayal of both the benefits and risks associated with genetic research and the application of genetic technologies Who do you think is behind “genohype”, the journalists or scientists? - May not always be the journalists as many scientists are under pressure to "make their research sound exciting and immediately applicable" (clarify that scientists write journal articles and journalists report their findings in magazines, newspapers, on the news and other forms of media) Think-Pair-Share- Pros and Cons of media involvement of genetic research Gather a few ideas before moving onto article Pro- allows general public to be updated on issues related to medicine and health Cons- exaggeration may lead public to be misinformed or have a skewed view on issues Article- “Do the print media “hype” genetic research? A comparison of newspaper stories and peerreviewed research papers” from the Canadian Medical Association Journal (2004) - In this study they found that most newspaper articles are written by in-house specialist science and technology or medical journalists Read article summary together What is your reaction to the findings? Are you surprised? Do you think there is harm in reporting the benefits? Why or Why not? - - sensationalization of genetics may have an adverse impact on the public’s ability to participate in policy discussions and on the utilization of genetic services because it creates inflated perceptions of the value of, for example, specific genetic tests (inflates expectations for general public and special interest groups such as patients and investors) by reporting only benefits they leave out the risks, for instance reports on new prescription drugs often leave out harmful side effects Why might there be an under-representation of risks in both scientific and newspaper articles? - Scientists do not want to emphasize costs or risks because they have their own agenda too Are there any limitations to this study? - Researchers only looked at print media (and only those related to peer reviewed articles and published abstracts) This study looked only at articles in respected newspapers, such as the Globe and Mail, Wall Street Journal, Guardian, etc. How might this affect the results and implications of the study? - These papers may have more journalists with science backgrounds affects the results and given that they are not circulated as highly as other tabloids may not be representative of what the public is reading Don’t take everything you see or read as the absolute truth and be sure to analyze where information comes from. Bear in mind that a few exaggerated articles may discredit all others in the public’s opinion. Try to understand that genetics is a relatively new field of study and it will take time to fully understand the complexity of many genetic issues. With that in mind it is an exciting field with advancements occurring in technology and implications for many other areas of science (health, environment, evolution, etc.) Appendix B- Mind’s On Article Do the print media “hype” genetic research? A comparison of newspaper stories and peer-reviewed research papers Tania M. Bubela, Timothy A. Caulfield 1. From the Health Law Institute (Bubela, Caulfield), the Faculty of Law and the Faculty of Medicine and Dentistry (Caulfield), University of Alberta, Edmonton, Alta. Timothy Caulfield is Canada Research Chair in Health Law and Policy and is Research Director at the Health Law Institute. 2004 Abstract Background: The public gets most of its information about genetic research from the media. It has been suggested that media representations may involve exaggeration, called “genohype.” To examine the accuracy and nature of media coverage of genetic research, we reviewed the reporting of single-gene discoveries and associated technologies in major daily newspapers in Canada, the United States, Great Britain and Australia. Methods: We used neutral search terms to identify articles about gene discoveries and associated technologies hosted on the Dow Jones Interactive and Canadian NewsDisk databases from January 1995 to June 2001. We compared the contents, claims and conclusions of the scientific journal article with those of the associated newspaper article. Coders subjectively assigned the newspaper articles to 1 of 3 categories: moderately to highly exaggerated claims, slightly exaggerated claims or no exaggerated claims. We used classification tree software to identify the variables that contributed to the assignment of each newspaper article to 1 of the 3 categories: attention structure (positioning in the newspaper and length of the article), authorship, research topic, source of information other than the scientific paper, type and likelihood of risks and benefits, discussion of controversy, valuation tone (positive or negative), framing (e.g., description of research, celebration of progress, report of economic prospects or ethical perspective), technical accuracy (either omissions or errors that changed the description of the methods or interpretation of the results) and use of metaphors. Results: We examined 627 newspaper articles reporting on 111 papers published in 24 scientific and medical journals. Only 11% of the newspaper articles were categorized as having moderately to highly exaggerated claims; the majority were categorized as having no claims (63%) or slightly exaggerated claims (26%). The classification analysis ranked the reporting of risks as the most important variable in determining the categorization of newspaper articles. Only 15% of the newspaper articles and 5% of the scientific journal articles discussed costs or risks, whereas 97% of the newspaper articles and 98% of the scientific journal articles discussed the likelihood of benefits of the research. Interpretation: Our data suggest that the majority of newspaper articles accurately convey the results of and reflect the claims made in scientific journal articles. Our study also highlights an overemphasis on benefits and under-representation of risks in both scientific and newspaper articles. The cause and nature of this trend is uncertain. Appendix C- Articles (#1) DNA Mismatch Repair Happens Only During a Brief Window of Opportunity ScienceDaily (Dec. 22, 2011) — In eukaryotes -- the group of organisms that include humans -- a key to survival is the ability of certain proteins to quickly and accurately repair genetic errors that occur when DNA is replicated to make new cells. In a paper published in the December 23, 2011 issue of the journal Science, researchers at the Ludwig Institute for Cancer Research and the University of California, San Diego School of Medicine have solved part of the mystery of how these proteins do their job, a process called DNA mismatch repair (MMR). "One of the major questions in MMR is how MMR proteins figure out which base in a DNA mispair is the wrong one," said Ludwig Institute assistant investigator Christopher D. Putnam, PhD, an adjunct assistant professor of medicine at UC San Diego. "For example, if guanine (G) is inappropriately in a base-pair with thymine (T), is the G or the T the error? Picking the wrong base results in mutations, not fixes." Using Saccharomyces cerevisiae, or baker's yeast, as their model organism, the researchers, led by Richard D. Kolodner, PhD, Ludwig Institute investigator and UCSD professor of medicine and cellular and molecular medicine, discovered that newly replicated DNA produces a temporary signal for 10 to 15 minutes after replication which helps identify it as new -- and thus a potential subject for MMR. The actual signal was not identified, but Putnam said it might be tell-tale nicks in singlestranded DNA or certain proteins associated with replication. The scientists are working to pinpoint the precise signal. The findings, combined with earlier, published work that visualized MMR in a living cell for the first time, more fully explains how eukaryotes eliminate DNA replication errors, which can result in defects and the development of cancers. "How eukaryotes identify the newly synthesized strand of DNA is a mystery that has persisted for at least 30 years," said Putnam. "These findings really change our ideas of how MMR works," said Putnam. Co-authors include Hans Hombauer and Anjana Srivatsan of the Ludwig Institute for Cancer Research, UCSD Departments of Medicine and Cellular and Molecular Medicine, Institute of Genomic Medicine and UC San Diego Moores Cancer Center. Funding for this research came from the National Institutes of Health. (#2) Frogs Use Calls to Find Mates With Matching Chromosomes; Tree Frogs That Look Similar Hear Chromosome Difference in Calls ScienceDaily (Dec. 27, 2011) — When it comes to love songs, female tree frogs are pretty picky. According to a new study from the University of Missouri, certain female tree frogs may be remarkably attuned to the songs of mates who share the same number of chromosomes as they do. The discovery offers insight into how new frog species may have evolved. Carl Gerhardt, Curators Professor of Biological Sciences in the MU College of Arts and Science and doctoral student Mitch Tucker studied two closely related species of grey tree frogs that live in Missouri, the eastern grey tree frog (Hyla versicolor) and the Cope's grey tree frog (H. chrysoscelis). "To the naked eye -- human and frog -- the two frogs look exactly alike," Gerhardt said. "The frogs differ only in the number of chromosomes. The eastern grey tree frog has double the number of chromosomes." To the ears of potential mates, the two species differ in their vocal performances. "The males are both singing the same love song -- just one frog is singing it slower. It's kind of like the difference between Eric Clapton's original and unplugged versions of Layla," Tucker said. In previous studies, the scientists found that tree frogs with more sets of chromosome have larger cell sizes, which slows down the trill rate. What was not known was whether the calling preferences of females are similarly linked to chromosome number. To answer this question, Tucker simulated the chromosome duplication event by replicating spring temperatures early in the frog development. Females were grown to maturity and then exposed to computer-generated, synthetic male calls that differed by trill rate. They found that the females hopped toward the calls with the trill rate of the males with matching chromosome numbers, which indicates female preference. "This shows that chromosome number alone can control the behavior that keeps the species separate," Gerhardt said. "In turn, as chromosome number increases, so does the size of cells, which is probably the immediate cause of the changes in calls and preferences." In animals, the origin of species is often associated with geographic barriers. A large body of water or range of mountains, for example, splits a large population and prevents mating. The eastern grey tree frog, according to Gerhardt, may represent a rare case of rapid evolution occurring by chromosome duplication, changes in behavior and reproductive isolation. The report, titled "Parallel changes in mate-attracting calls and female preferences in autotriploid tree frogs," was published by the journal Proceedings of the Royal Society BBiological Sciences. The study was supported by funding from the National Science Foundation, National Institutes of Health, and the University of Missouri Research Board. (#3) Major breast cancer breakthrough announced at BC Cancer Agency VANCOUVER, Oct. 7, 2009 /PRNewswire/ - For the first time in history, BC Cancer Agency scientists in British Columbia, Canadahave decoded all of the three billion letters in the DNA sequence of a metastatic lobular breast cancer tumour, a type of breast cancer which accounts for about 10 per cent of all breast cancers, and have found all of the mutations, or "spelling" mistakes that caused the cancer to spread. The landmark study, which will be published October 8th as the cover story in the prestigious international science journal Nature, helps unlock the secrets of how cancer begins and spreads, thus pointing the way to the development of new breast cancer treatment targets and therapies. "One in nine women is expected to develop breast cancer, and breast cancer accounts for 29 per cent of all cancer diagnoses for B.C. women," said Health Services Minister Kevin Falcon. "As a result of the efforts of the scientists behind the study, this breakthrough finding gives further hope to the thousands of women with this terrible disease." "I never thought I would see this in my lifetime," said Dr. Samuel Aparicio, head of the breast cancer research program at the BC Cancer Agency, an agency of the Provincial Health Services Authority (PHSA). "This is a watershed event in our ability to understand the causes of breast cancer and to develop personalized medicines for our patients. The number of doors that can now be opened to future research is considerable." Partnering with the BC Cancer Agency's Genome Sciences Centre, Dr. Aparicio's team used the latest in next-generation DNA sequencing technology to study the evolution of a single patient's lobular breast cancer tumour over a nine-year interval. They found 32 mutations in the metastatic cancer tumour and then looked to see how many of those same spelling mistakes were present in the original tumour. The result was surprising - only five of the 32 could have been present in all of the cells of the primary tumour, thus fingering them as the criminals that caused the disease to get started in the first place. These five mutations were previously unknown to researchers as playing a role in cancer. "This study demonstrates the remarkable capacity of next-generation DNA sequencing technology," says Dr. Marco Marra, Director, BC Cancer Agency's Genome Sciences Centre. "The project that decoded the first human genome in 2001 took years and an enormous amount of funding. We were able to sequence the breast cancer genome in weeks and at a fraction of the cost." "Through our research at the BC Cancer Agency, we are dedicated to finding new and novel ways to detect cancer earlier and to develop more enhanced treatments," said Brian Schmidt, Interim President, BC Cancer Agency and Senior Vice President, Provincial Services, Population and Public Health, PHSA. "This discovery is a wonderful example of how investment in research is helping to pave the way toward better outcomes for cancer patients in the future." The discovery is not only a major scientific milestone for the BC Cancer Agency, an acknowledged world leader in cancer research care, but also a significant testimony to the power of philanthropy invested in science to fuel cancer research and drive new discoveries. "The BC Cancer Foundation, as the fundraising arm of the agency, has raised over $15 million to support breast cancer research at the BC Cancer Agency across the province, including Dr. Aparicio's program, through its Weekend to End Breast Cancer walk," said BC Cancer Foundation President and CEO Douglas Nelson. "We are very grateful to the many thousands of British Columbians who have walked, donated and supported The Weekend to End Breast Cancer over the past six years. To everyone who has walked or contributed we can confidently say your efforts have made a difference - you are a partner in this remarkable achievement." The BC Cancer Foundation founded the BC Cancer Agency's Genome Sciences Centre, the Centre for Translational and Applied Genomics at the BC Cancer Agency, and the BC Cancer Agency's Breast Cancer Outcomes Unit, all of which played a key role in the study. The research was conducted in the BC Cancer Agency's research centre in Vancouver, which was constructed by the BC Cancer Foundation, with donor and provincial and federal government funding. The Canadian Breast Cancer Foundation, BC/Yukon Region supported a key member of Dr. Aparicio's research team through a bioinformatics fellowship. Other funders and supporters include the Canadian Institutes for Health Research, Genome Canada and Genome BC, the Canadian Foundation for Innovation, and the Michael Smith Foundation for Health Research. Dr. Aparicio was recruited in 2005 from Cambridge University, UK to develop a breast cancer research program in British Columbia at the BC Cancer Agency. He holds the Nan and Lorraine Robertson Chair in Breast Cancer Research at theUniversity of British Columbia (UBC), the Canada Research Chair in Molecular Oncology and is a professor in the Department of Pathology and Laboratory Medicine at UBC. The BC Cancer Agency is committed to reducing the incidence of cancer, reducing the mortality from cancer and improving the quality of life of those living with cancer. It provides a comprehensive cancer control program by working with community partners to deliver a range of oncology services, including prevention, early detection, diagnosis and treatment, research, education, supportive care, rehabilitation and palliative care. The BC Cancer Foundation raises funds to support research and enhancements to patient care at the BC Cancer Agency throughout B.C. (#4) Cold Cases Gone Hot: Researchers Solve Decades-Old Medical Mysteries Using Genetics ScienceDaily (Jan. 28, 2011) — The mystery began in 1976. Adolfo Pampena was diagnosed with a rare form of cancer that caused a strange combination of symptoms and was associated with the occurrence of multiple tumours in his stomach and colon. His medical team was stumped and was unable to answer the most important questions for him and his family: the cause of his disease and the risk for future generations. Now, 35 years later, the answers are at hand thanks to a genetic study led by investigators at the Research Institute of the McGill University Health Centre (RI MUHC), the McGill Program in Cancer Genetics at the Gerald Bronfman Centre for Clinical Research in Oncology and the Lady Davis Institute for Medical Research at the Jewish General Hospital. The study was recently published in The New England Journal of Medicine (NEJM). The researchers were able to pinpoint the gene responsible for the disease (BUB1B), which is involved in the regulation of chromosomal separation. Instability during cell division can result in chromosomes ending up in the wrong place, which can lead to the development of tumours. "The general significance of this discovery is that individuals can be seen at our genetic clinic with an unknown condition and end up with a diagnosis that is relevant to patients and their families," said Dr. William Foulkes, senior author of the study and a researcher in genetics at the RI MUHC, the Lady Davis Institute. "My father and family were relieved that the cancer risk for other family members is much less than we thought," said Mary Pampena, Adolfo's daughter. "Now we know more about my father's genetic history and the cancers he had. We know what screening test to do in the future. This is important information for us, our children and future generations." In another study published in the January, 2011 Journal of the American Medical Association (JAMA). Dr. Foulkes details a second solved mystery involving five families with a long history of nontoxic multinodular goiter (MNG). Goiter is a thyroid disease which can lead to extreme swelling of the neck or larynx. The most common form of the disease is not genetic and is due to iodine insufficiency. However, this form of MNG was known to be genetic, but to date, no one had ever localized the specific gene or mutation responsible. Dr. Foulkes, Dr. Marc Tischkowitz (from the Program in Cancer Genetics and the Lady Davis Institute) and their team finally succeeded, and found the mutation in a surprising place. As it turns out, the mutation, in a gene called DICER1, was extremely unusual, Foulkes said, who is also James McGill Professor of Medicine, Human Genetics and Oncology and Director of the Program in Cancer Genetics at McGill University. "It changes the protein in only one place, and that single change is enough to trigger multinodular goiter. Generally speaking, when you have a mutation in a disease gene, it causes a multitude of problems, not just one illness. But in this case, we have no evidence that it causes anything except goiter. Intriguingly, women in three of the families had been diagnosed with an unusual type of ovarian tumor called Sertoli-Leydig Cell Tumor and thus Foulkes and his colleagues were able confirm that there is a genetic link between multi-nodular goiter and these rare tumors. This link had first been postulated in 1974. "In the future, our challenge as researchers is to be able to help people with an unknown condition by finding out rather quickly what the genetic cause of their problem is" explained Foulkes. "We can hope in the long-term to have an impact on treatment, diagnosis and other aspect of management." (#5) Coffee Drinking in Your Genes? Genetic Variants in Two Genes Linked With Caffeine Intake ScienceDaily (Apr. 6, 2011) — Two genes in which variation affects intake of caffeine, the most widely consumed stimulant in the world, have been discovered. A team of investigators from the National Cancer Institute, Harvard School of Public Health, Brigham and Women's Hospital, and the University of North Carolina at Chapel Hill examined genetic variation across the entire genome of more than 47,000 individuals from the U.S., as described in the open-access journal PLoS Genetics. The genes identified were CYP1A2, which has previously been implicated in the metabolism of caffeine, and AHR, involved in the regulation of CYP1A2. Individuals with the highest-consumption genotype for either gene consumed ~40 mg more caffeine than those with the lowest-consumption genotype, equivalent to the amount of 1/3 cup of caffeinated coffee, or 1 can of cola. Caffeine is implicated in numerous physiological and medical conditions; it affects sleep patterns, energy levels, mood, and mental and physical performance. The identification of genes that have an impact on daily consumption offers opportunities to better understand these conditions. Further exploration of the identified genetic variants may provide insight into the speed of caffeine metabolism, how long caffeine circulates in the blood, or how strong the physiological effects of consuming a given amount of caffeine are. Apart from smoking, genetic determinants of lifestyle behaviors have generally not been consistently described. This study is among the first to examine the entire genome for a relationship between genetics and caffeine intake, a lifestyle behavior relevant to over 90% of U.S. adults. The study's success also suggests that additional genetic determinants of dietary and lifestyle behaviors may be identified in the future using a similar genome-based research strategy.