Genetic Disorder Research Project



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Genetic Disorder Research Project
Introduction:

There are thousands of genetic disorders that affect humans, some of which can have profound effects on a person’s quality of life. Genetic disorders are passed from parents to offspring in the genetic code, and in some cases, a person may be a carrier for a disease and pass it to their children without knowing. Because genetic diseases are usually caused by errors or mutations in the genetic code, it is extremely difficult to cure the condition, and in most cases, doctors can only treat the symptoms.


Task:

You have been selected by a local doctor to design a genetic disease fact sheet or brochure for her office. She asked that you select a genetic disease that would present information for patient education. Assume that most of the patients of your audience are adults with at least a typical high school science background.

  • Both the fact sheet and brochure should be creative as well as informative. For either option, be sure to include accurate, up-to-date information and graphics that illustrate important ideas.

  • You MUST reference at least four sources of information on a separate “works cited” page to hand in along with your finished product. These references must be in APA format. A great website for APA formatting is: www.bibme.org… Wikipedia is not a valid source!!


Procedure:


  1. Choose which disease you will research. There are many genetic diseases to choose from, and a list of links that you can explore the known human genetic diseases.

Choose from the following list:




Sickle-cell anemia

Albinism


Cystic fibrosis

Achondroplasia (dwarfism)

Huntington’s Disease

Edward’s Syndrome

Patau Syndrome

Progeria


Gaucher disease

Duchenne Muscular Distrophy

Hemophilia

Phenylketonuria

Tay Sachs Disease

Adrenoleukodystrophy (Lorenzo’s Oil)

Coffin-Lowry Syndrome

Marfan Syndrome

Rett Syndrome

Turner Syndrome

Xeroderma pigmentosum

Prader-Willi Syndrome



Hereditary nonpolyposis colorectal cancer (HNPCC)

BRCA1/2 Breast Cancer

Cri-du-chat Syndrome

Neurofibromatosis

William’s Syndrome

Angelman Syndrome

Severe combined immunodeficiency (SCID)

Hemochromatosis

Beta-thalassemia

Fragile X



Acute myeloid leukemia



  1. Answer the following questions in full sentences as you do your research.




  1. What are the possible genotypes of the parents?

  2. Describe the genotypic abnormality that results in the disease.

  3. What are the physical symptoms and/or limitations related to having the disease?

  4. What are the chances of a person with this disease passing the disease to their offspring (include possible scenarios)?

  5. How prevalent is the disease in the population (include statistics)?

  6. How possible is it that a cure will be found (latest research)?

  7. Include a Reflection section:


Helpful Websites:


  1. http://dmoz.org/Health/Conditions_and_Diseases/Genetic_Disorders/

  2. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.168

  3. http://dnai.org

  4. http://www.ygyh.org/

  5. http://learn.genetics.utah.edu/content/disorders/whataregd

  6. http://www.bibme.org  Free on-line APA formatting for “works cited”


Genetic Disorder Sign-up


Disease Name

Name

Sickle-cell anemia




Albinism




Cystic fibrosis




Achondroplasia (dwarfism)




Huntington’s Disease




Edward’s Syndrome




Patau Sydrome




Progeria




Gaucher disease




Duchenne Muscular Distrophy




Hemophilia




Phenylketonuria




Tay Sachs Disease




Adrenoleukodystrophy (Lorenzo’s Oil)




Coffin-Lowry Syndrome




Marfan Syndrome




Rett Syndrome




Turner Syndrome




Xeroderma pigmentosum




Prader-Willi Syndrome




Hereditary Nonpolyposis colorectal carcinoma (HNPCC)




BRCA1/2 Breast Cancer




Cri-du-chat Syndrome




Neurofibromatosis




William’s Syndrome




Angelman Syndrome




Severe combined immunodeficiency (SCID)




Hemochromatosis




Beta-thalassemia




Fragile X




Acute myeloid leukemia





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