Genetic Diseases WebQuest


A WebQuest for 7th Grade (Science)

Designed by

Pamela Aban

for

J741, Educational Services in Libraries

School of Library and Information Studies

University of South Carolina at Columbia

Fall 2004

Amanda LeBlanc, Instructor


                                                                                                       

Image from www.doegenomes.org



Introduction | Task | Process | Evaluation | Conclusion | Credits | Teacher's Page


Introduction


You are a medical intern who has a patient that has come to you not feeling well.  Based on the patient's symptoms, you will make a diagnosis of the patient's disease.  Once you have diagnosed and researched the disease, you will then report your findings to your fellow colleagues at the Genetic Disease Conference for medical interns. 

At the conference you will learn about a wide variety of genetic diseases and disorders.  You will gain an understanding that mutations can affect the function of an organism and can result in diseases and how those diseases are inherited.  You will hopefully develop a compassion for people with diseases.  You will also collaborate on possible ideas that could lead to further scientific research for these diseases.




 

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Task


1.  As a medical intern, you have a patient in your clinic who is ill.  Based on the case study with the symptoms provided to you by the Chief Resident, your job as a medical intern is to learn what you can about these symptoms and diagnose this disease.

2.  Once you have diagnosed the disease that this patient has, you will investigate various aspects of the genetic disease or disorder and record your findings.  You will need to record the information that you found regarding this disease in your scientific journal  pdf .

3.  You will then create a presentation using MS PowerPoint to present the facts you learned in Steps 1 and 2 to your fellow colleagues at a medical conference, as doctors often do to share medical information.

4.  After the presentations and based on what you learned at the conference, you will collaborate with your colleagues on future research ideas and questions.  You will help formulate questions for future study ideas for these genetic diseases.

 

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Process


1.  First you will be given a case study prepared by your Chief Resident on a patient who is ill in your clinic.  Each intern will receive a different case study. (See blank sample here).

2.  Each intern will read and review their case study carefully for clues based the patient description and symptoms.  Based on the information provided on the case study, visit the following site in order to explore the various genetic diseases and their symptoms.  This will help you to make your diagnosis.

 Make Your Diagnosis                       

 Glossary1  Glossary 2  for clarification of terms

3.  Once you have diagnosed what you believe the disease to be, please consult and confirm your diagnosis with your Chief Resident before proceeding further.

4.  Once the disease confirmation has been made, conduct a thorough investigation into that particular genetic disease.

5.  Please print and record your research in your scientific journal pdf as a way to guide and organize your research.   For your research, you will need to identify the:

  • symptoms 
  • causes
  • incidence
  • tests and screening
  • treatments
  • how it is inherited
  • facts and theories
  • expected quality of life for the patient
  • additional thoughts and questions

6. In order for you to conduct your research, you have been provided with the following Internet resources:

Sites with Various Genetic Disease Information:

Genetics Home Reference:  The U.S. National Library of Medicine provides a service that includes this guide to understanding genetic conditions.  Includes information on what is new, a handbook, glossary, resources, a search box, and the browse option for exploring more information on each disease.  

Genetic Information and Patient Services:  a non-profit organization providing information on the Internet about genetic disorders and birth defects.  Includes definitions of disorders, resources, and a glossary.

Genetic Disorders:  The National Institutes of Health, National Human Genome Research Institute provides an overview of genetic diseases and information on some specific genetic disorders.

Blazing the Genetic Trail, Howard Hughes Medical Institute:  Information on why there are so many errors in our DNA, how genetic disorders are inherited, and how to conquer a genetic disease.

Genetic and Rare Conditions Site, U of Kansas Medical Center:  Includes advocacy and support groups, information on genetic conditions and birth defects, and national and international organizations.

Sites for Specific Genetic Diseases:
Alzheimer Disease
Fragile X
Neurofibromatosis
Beta-Thalassemia
Hemochromatosis
Phenylketonuria
Cystic Fibrosis
Hemophilia
Polycystic Kidney Disease
Down Syndrome
Huntington Disease
Sickle Cell Disease
Duchenne/ Becker Muscular Dystrophy
Marfan Syndrome
Tay-Sachs Disease


7.  Each intern will also need to visit your school or local public library and use (1) print resource to obtain additional information on your disease.  Your print resource may be an encyclopedia, a book, or a magazine.

8.  Remember to always cite your sources that were used for your research and presentation.  There is a space at the bottom of your scientific journal  pdf for recording citations.  If you need help, following one of these links:
 OSLIS Citation Maker or NoodleBib 5.

Citation Examples:  

Book Citation:   Author's Last Name, First Name Middle Name. Title of Book. City of Publication: Publisher's Name, Year of Publication.

Magazine Citation:  Last Name, First Name Middle Name. "Title of Article." Name of Magazine. Date of Publication: Page Numbers of Article. 

Webpage Citation:  Last Name, First Name Middle Name. "Specific Page or Article Title." Title of Entire Web Site.  Date Web Page Was Last Revised. Sponsoring Organization. Date You Read It <URL>.

9.  Once you have investigated your genetic disease, you will create a MS PowerPoint presentation (guidelines here  pdf ) to present to your fellow medical interns at the Genetic Disease Conference.  This will be an opportunity for you to give an oral and multimedia presentation using graphics on the results of your research.  Professionals often meet at conferences in order to present and share ideas and discoveries with their colleagues.

10.  As part of the conference and following the genetic disease presentations, you will participate in a brainstorming session with other young, bright, and innovative medical interns on ideas that warrant further investigative research into possible cures or treatments for these various genetic diseases.

11.  Select an intern or have the Chief Resident record the ideas.  Also, as Part II of this session, record questions that you would like to ask a genetic counselor or genetic researcher in order to further your understanding of the diseases.

12.  For the disease that you diagnosed and investigated, what would you recommend to the family of the patient based on what you have learned?  After consulting with your fellow colleagues if needed,

  • What tests or screening would you suggest to confirm the diagnosis?
  • Would you recommend further testing of the parents or siblings?
  • How would you explain to the family how the disease is inherited?
  • What treatment would you suggest as the best one?
  • Do you know anyone personally with this type of inherited disease?
  • What is the prognosis for this patient?
  • Once you have learned what it is like living with the disease, do you have any ideas on how to make life easier for this patient?
Remember, as medical interns, it is important to use compassionate and caring attitudes in relaying information to the family and patient.



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Evaluation


Research Rubric  pdf

PowerPoint Rubric  pdf

Presentation Rubric  pdf




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Conclusion


What an amazing group of medical interns you are!  You have successfully diagnosed, researched, and creatively presented your findings to your colleagues. You have learned a great amount of information about other genetic diseases, as well as using research skills, and collaborating and sharing of information. You have developed a sense of compassion for your patients by learning about what life is like for each patient and the difficulties they must endure.  This will help you become an informed patient, family member, or perhaps, one day, a future physician.  You have done a wonderful job of developing ideas for future research investigations into these diseases.  Maybe one of you will find a cure for one of these genetic diseases one day!

If you would like to learn more, you might want to check out the following links:

Gene Therapy Related Links:  The Gene School '99 is an educational site that explores genetic science.  Includes gene therapy information and links, ethics, fundamental information, a glossary, and interactive games and experiments.

Human Genome Project:  The National Institutes of Health, National Human Genome Research Institute includes information entitled, "All About the Human Genome Project."

Ethics of Genetic Testing:  Access Excellence @ The National Health Museum provides an overview on genetic screening and ethics.  Includes some genetic diagnoses available, along with the incidences and nature of some genetic diseases.

How Stuff Works
:  Information on How the Cell Works, including enzymes, proteins, DNA, genetic diseases, and biotechnology.  Includes links to more information.






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Credits 

I would like to say a special thank you to Mrs. Linda Strother, 7th grade Gifted Science teacher at Lakeside Middle School in Evans, Georgia, for all of her help and suggestions while collaborating on this project.  I would also like to thank my professor at the University of South Carolina, Mrs. Amanda LeBlanc for her guidance, and to Mrs. Kim Isiminger, School Media Specialist at Lakeside Middle School, for all of her help.

Books
Arnold, Caroline.  Genetics: From Mendel to Gene Splicing.  New York:  Franklin Watts, 1986.
Bornstein, Sandy.  What Makes You What You Are: A First Look at Genetics.  Englewood Cliffs, NJ: Julian Messner, 1989.
Brown, Fern G.  Hereditary Diseases.  New York:  Franklin Watts, 1987.
Edelson, Edward.  Birth Defects.  New York:  Chelsea House Publishers, 1992.
Facklam, Margery and Howard Facklam.  From Cell to Clone.  San Diego:  Harcourt Brace Javanovich, 1979.
Graham, Ian.  Genetics: The Study of Heredity.  Milwaukee, WI: Gareth Stevens Publishing, 2002.
Gutnick, Martin J.  Genetics:  Projects for Young People.  New York:  Franklin Watts, 1985.
Holmes, Fiona.  Tomorrow's World Medicine.  London:  British Broadcasting Corp., 1985.
Hyde, Margaret O.  and Lawrence E. Hyde.  Cloning and the New Genetics.  Hillside, NJ:  Enslow Publishers,Inc., 1984.
Lampton, Christopher.  DNA and the Creation of New Life.  New York: Arco Publishing, Inc., 1983.
Marshall, Diana, ed.  The Revolution in Genetics: Understanding Global Issues.  North Mankato, MN: Smart Apple Media, 2003.
Silverstein, Alvin and Virginia Silverstein.  The Genetics Explosion.  New York:  Macmillan Publishing Company, 1980.
Swisher, Clarice.  Genetic Engineering.  San Diego, CA: Lucent Books, Inc., 1996.

Websites

Baker, Dan, Mark Anunson, and Josh Cracraft.  "Gene School '99." 1999. Oracle Education Foundation ThinkQuest. 3 October 2004.  Available URL:  http://library.thinkquest.org/28599/links_gene_therapy.htm

"Blazing the Genetic Trail." Spring 2002.  Howard Hughes Medical Institute.  4 October 2004.  Available URL:  http://www.hhmi.org/genetictrail/

Devore, David.  "Genetic Screening and Ethics."  1992.  Access Excellence at the National Health Museum. Woodrow Wilson Biology Institute.  4 October 2004.  Available URL: http://www.accessexcellence.org/AE/AEPC/WWC/1992/gen_screen1.html

Dolan DNA Learning Center. "Your Genes, Your Health: A Multimedia Guide to Genetic Disorders."  2002.  Cold Spring Harbor Laboratory.  Internet.  1 October 2004.  Available URL:  www.yourgenesyourhealth.org

Collins, Debra.  "Genetic and Rare Conditions Site." 2004.  Medical Genetics, University of Kansas Medical Center.  4 October 2004.  Available URL: http://www.kumc.edu/gec/support/

Genetic Information and Patient Services, Inc. "The GAPS Index to Information on the Internet about Genetic Disorders and Birth Defects." Arizona State Public Information Network.  13 October 2004.  Available URL: http://aspin.asu.edu/geneinfo/index.html

GeneTests.  "Glossary."  2004.  University of Washington, Seattle, WA.  4 October 2004.  Available URL: http://www.geneclinics.org/servlet/access?qry=ALLTERMS&db=genestar&fcn=term&gtreport2=true&id=
8888891&key=2Fom71itycp1e 


"Genetics Home Reference:  Your Guide to Understanding Genetic Conditions." 8 October 2004. U.S. National Library of Medicine.  Internet.  4 October 2004.  Available URL: http://ghr.nlm.nih.gov/

"How Cells Work."  2004.  HowStuffWorks, Inc.  4 October 2004.  Available URL:  http://science.howstuffworks.com/cell.htm

National Human Genome Research Institute. "All About the Human Genome Project."  August 2004. The National Institutes of Health. 4 October 2004.  Available URL:  http://www.genome.gov/10001772

National Human Genome Research Institute.  "Specific Genetic Disorders." October 2004. The National Institutes of Health. 4 October 2004.  Available URL:  http://www.genome.gov/10001204

National Human Genome Research Institute.  "Talking Glossary of Genetic Terms."  2004.  The National Institutes of Health.  4 October 2004.  Available URL: http://www.genome.gov/10002096

"NoodleBib5." 2004. Noodle Tools, Inc.  4 October 2004. Available URL: http://www.noodletools.com/noodlebib/citeone.php

"OSLIS Citation Maker." 28 May 2003.  Oregon School Library Information System.  4 October 2004.  Available URL:  http://www.oslis.k12.or.us/citeintro/ctimeout.php

U.S. National Library of Medicine. "Genetics Home Reference: Your Guide to Understanding Genetic Conditions."  24 September 2004.  Internet.  2 October 2004.  Available URL:  http://ghr.nlm.nih.gov/

Specific Diseases National Websites

"Alzheimer's Association." 2004.  Alzheimer's Association.  4 October 2004.  Available URL:  http://www.alz.org/

"Bleeding Disorders Info Center." 25 September 2004. National Hemophilia Foundation.  15 October 2004.  Available URL:  http://www.hemophilia.org/home.htm

"Breaking the Sickle Cycle." 14 March 2004. Sickle Cell Disease Association of America, Inc.  15 October 2004.  Available URL:  http://www.sicklecelldisease.org/default.htm

"Cooley's Anemia Foundation: Leading the Fight Against Thalassemia."  2001.  Cooley's Anemia Foundation.  4 October 2004.  Available URL: http://www.thalassemia.org/

"Cystic Fibrosis Foundation Home Page."  Cystic Fibrosis Foundation.  4 October 2004.  Available URL:  http://www.cff.org/home/

"Fraxa Home Page." 2004. The Fragile X Research Foundation.  15 October 2004.  Available URL:  http://www.fraxa.org/

"HDSA Home Page."  Huntington's Disease Society of America.  15 October 2004.  Available URL:  http://www.hdsa.org/

"The National Down Syndrome Society Web Site." 2004. National Down Syndrome Society.  4 October 2004. Available URL:  http://www.ndss.org/

"National PKU News:  News and Information about Phenylketonuria."  October 2004. The National PKU News.  Available URL:  http://www.pkunews.org/

"Neurofibromatosis Home Page." 2004. The National Neurofibromatosis Foundation. 15 October 2004.  Available URL:  http://www.nf.org/

"NMF Home Page." 2004.  The National Marfan Foundation.  15 October 2004.  Available URL:  http://www.marfan.org/nmf/index.jsp

"Parent Project: Muscular Dystrophy:  Leading the Duchenne Muscular Dystrophy Community."  12 October 2004.  Parent Project Muscular Dystrophy.  15 October 2004. Available URL: http://www.parentprojectmd.org/news/latest/index.html

"PKD Foundation:  For Research in Polycyctic Kidney Disease."  PKD Foundation.  15 October 2004.  Available URL:  http://www.pkdcure.org/home.htm

"Prevention Through Genetic Testing."  10 October 2004.  American Hemochromatosis Society.  15 October 2004.  Available URL:  http://www.americanhs.org/

"Welcome to the National Tay-Sachs & Allied Diseases Association, Inc. Web Site."  NTSAD.  15 October 2004.  Available URL:  http://www.ntsad.org/

Images

U.S. Department of Energy Office of Science. "Human Genome Project Information: Image Gallery."  11 March 2004.  Internet.  23 September 2004.  Available URL: http://www.ornl.gov/sci/techresources/Human_Genome/education/images.shtml

Meisner, Gary. "Phi: The Golden Number: DNA."  2004.  Internet.  23 September 2004.  Available URL:  http://www.goldennumber.net/dna.htm.  Used with permission.

AAA-Backgrounds. "Backgrounds." 2000.  Internet.  2 October 2004.  Available URL:  http://www.aaa-backgrounds.com



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Created by Pamela Aban  --  September 27, 2004
email:  sweet15pea@yahoo.com



Based on a template from The WebQuest Page