NAUTIL.US
to therapy when the same therapy has failed other patients.
Remission: a decline or disappearance of signs and symptoms of cancer.
READING COMPREHENSION 1. Why are orphan diseases underfunded?
2. How does the mutation in calpain 3 cause muscle to fail to grow?
3. What are some reasons pharmaceutical com- panies would want to develop drugs for orphan diseases? What are some possible reasons they would be against doing so?
4. Statistically speaking, outliers are often ignored. In this story, why 1s patient number 45 such an interesting case? Why is it generally important to study the outliers of response?
5. Which protein’s activity 1s blocked by evero- limus? What is the function of this particular protein?
DISCUSSION QUESTIONS
1. In what contexts would it be desirable and unde- sirable to sequence your genome to see if you are at risk for a disease? What are the benefits and downsides of knowing if you are at risk for a particular disease?
2. In both pieces, mutations are responsible for causing disease. Compare and contrast the ways mutations can lead to muscular dystrophy and cancer. Are the mutations in one case hereditary? Are mutations leading to either disease caused by environmental factors? Are the mutations in either case preventable? If so, how could they be prevented?
3. How should doctors and scientists decide whether to work on a rare condition?
TEXT SETS
ACTIVITIES
Some genes are not specific to humans, but rather, are common to myriad species. In a smaller group, you will be assigned to read about one of the pro- teins listed here: http://nautil.us/issue/5/fame/ genes-that-won-the-fame-game
Please answer the following questions when itis your turn to presentto theclass:
1. What organisms is the gene present in? Were you surprised by the presence of the gene in any of the organisms listed? Ifso, why?
2. Ifthis protern was mutated, what could the con- sequences look like? Could it cause a disease?
3. Research and present one other case of an outlier being useful in science or medicine.
WHERE THIS FITS IN THE CURRICULUM
Structure and Function (HS-LS1-1) A cell contains genetic information in the form of DNA molecules. Genes are regions in the DNA that contain the instructions that code for the formation of proteins, which carry out most of the work of cells.
Variation of Traits (HS-LS3-2) Although DNA repli- cation 1s tightly regulated and remarkably accurate, errors do occur and result in mutations, which are also a source of genetic variation. Mutations can, in turn, cause disease and/or affect human health. The pattern of mutations can also predict response to drugs.
Inheritance and Variation of Traits - Environmental Factors (HS-LS3-3) Technological advances have influenced the progress of science and science has influenced advances in technology. Technologies have evolved to sequence human genes, which can better inform doctors of their patients’ health. Likewise, pharmaceutical companies have also created many drugs for the treatment of human disease.
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