年份
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问题
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2019
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Jonathan, age 50, has just been diagnosed with Huntington disease (HD). His genetic counselor, Karen, seeks Jonathan’s consent to disclose this diagnosis to his daughter, Sarah, who is 25. Jonathan refuses to allow Karen or anyone else on the medical staff to reveal this diagnosis to Sarah. (1) Present arguments for and against Jonathan’s position by discussing the relevant goals, rights, and duties of each of the parties in this case. (2) Then choose one argument to defend, using your knowledge of the scientific and medical aspects of HD. Be certain to use your knowledge of the scientific and medical aspects of HD to support your views.
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2018
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Traditionally, genetic testing for diagnosis or risk of disease has been done in conjunction with medical professionals, such as genetic counselors. These professionals are experts not only in genetics, but also in counseling patients and family members about the benefits and potential harms of learning about a disease risk. Today, this traditional route is not the only option: direct-to-consumer genetic testing, offered by several companies, does not require a medical professional. The U.S. Food and Drug Administration (FDA) has established a process by which companies can provide predictive testing for certain disorders, in addition to common traits such as straight or wavy hair.
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2017
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In the early 1990s, gene therapy was hailed as a potential treatment or cure for many genetic diseases and conditions. Unfortunately, problems during clinical trials, including the death of a patient due to a fatal immune reaction, forced scientists to re-think their strategies. Recent advances in biology have made gene therapy more promising than ever and expanded the field beyond its original concept of providing an additional, functional copy of a malfunctioning gene to specific cells. Choose one modern example of gene therapy (since 2005), describe the disease or condition researchers are attempting to treat, and explain how the therapy/approach might repair the underlying cause of the disease or condition.
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2016
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Choose a genetic test that is currently available for a condition or disease that does not cause symptoms until adulthood (i.e., an adult-onset condition such as hereditary breast cancer). Describe how the test works and how certain the test results are. Then, either defend or refute the recommendation below from ASHG’s recent position statement on pediatric genetic testing.
“Adolescents should be encouraged to defer predictive or pre-dispositional testing for adult-onset conditions until adulthood because of the complexity of the potential impact of the information at formative life stages.”
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2015
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In 1969, Jonathan Beckwith, James Shapiro, and Lawrence Eron isolated the first gene, the Lac Z gene from E.coli. At that time, genes were thought to be discrete, contiguous segments of DNA that coded for functional protein products. Using our current understanding of how the human genome is structured and regulated, and what products it can produce, choose a phenomenon (a molecular process, structure, or product, not a disease) that expands on the traditional definition of a gene. Explain the phenomenon and provide three specific examples of it in the human genome
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2014
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Complex traits, such as blood pressure, height, cardiovascular disease, or autism, are the combined result of multiple genes and the environment. For ONE complex human trait of your choosing, identify and explain the contributions of at least one genetic factor AND one environmental factor. How does this interplay lead to a phenotype? Keep in mind that the environment may include nutrition, psychological elements, and other non-genetic factors. If the molecular or biological basis of the interaction between the genetic and environmental factors is known, be sure to discuss it. If not, discuss the gaps in our knowledge of how those factors influence your chosen trait.
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2013
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2013 marks the 60th anniversary of the discovery of the double helix of DNA by James Watson and Francis Crick and the 10th anniversary of the first sequencing of the human genome. Choose either of these breakthroughs and explain its broader impact on biotechnology, human health and disease, or our understanding of basic genetics, such as genetic variation or gene expression.
Justify your answer in detail and be sure to include one or more specific examples of broader impact. Use reliable references and citations to support your argument, for example, research published by experts in scientific journal articles and books.
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2012
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Genes exert their influence on organisms by being turned on and off in precise ways and at precise times. Disease can result when problems arise during this process of “gene regulation.” The first processes of gene regulation to be discovered involved molecular ‘switches’ that regulate transcription at gene promoters.
In the last 20 years, genomic research has uncovered many new types of gene regulation that earlier researchers would have never imagined. Genes can be regulated by repressors, activators, enhancers, epigenetic changes to chromatin, RNA interference, the environment, and other processes. Choose one of the gene regulation processes listed above and, using references to support your argument, explain why/how that regulatory process is critically important to ONE of the following:
Early development
Normal cell function
Causation of disease or cell malfunction
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2011
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In 2010, a major discovery in genetics research found that the DNA of some modern humans contains small amounts of Neanderthal DNA. Briefly explain this finding and discuss its relevance to human ancestry and evolution.
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2010
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Scientists can now determine the complete DNA sequences of organisms, including humans. Now that this milestone has been reached, is there a reason to continue learning about Mendel, alleles, and inheritance patterns? Explain your answer.
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2009
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Some traits come in two varieties (for example, Mendel’s round and wrinkled peas with the green and yellow colors). Do all traits for all species come in only two varieties? Justify your answer by explaining the relationship between genes and traits.
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2008
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Discuss the practical implications that genetics research is playing in our lives today. Discuss where is might lead us in the next 10 years.
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2007
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Discuss the practical implications that genetics research is playing in our lives today. Discuss where is might lead us in the next 10 years.
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