Genetic Disease Research Project

Project questions/goals:

• Research a single genetic disease and prepare  electronic and printed presentations to demonstrate your understanding of topis we have been discussing through the last few units.
• For your assigned disease, research the following:

1. What gene is affected to cause this disease?
2. On which chromosome is the gene located?  Find an image of the chromosome or a human karyotype and identify the location of the gene. 

3. What is the function of the "normal" gene?  What protein/enzyme does it code for?  What is the function of this protein/enzyme?

    

4. What are the symptoms of the disease?  How is this related to the function of the protein? 

5. What type of mutation (or other chromosomal error) is often associated with this disease?

    

6. Why is the non-“normal” form of the gene unable to produce a functional protein/enzyme? 

7. What is the pattern of inheritance of this disease? 

8. What is the frequency of this disease in the population?  Frequency of carriers? 

9. What are currently available treatment options? 

10. If there is an effective treatment available, how does this work?  If there is none, why has it been difficult to develop an effective treatment?  List at least one support organization for those with the disease and their families.

• You will each create your own Wiki page and submit a 3-fold brochure.

Helpful sites:

The National Institues of Health (NIH) Genetic Disease Reference http://ghr.nlm.nih.gov/BrowseConditions

Note:  There is a fine line between plagirism and quoting information from a source.  For this project, NO TEXT should be directly quoted from any of your sources.  Look up enough resources so that you can describe the disease in your own words.  DO make a list of ALL of your references at the end of the Wiki.  If I see that you are simply "cutting and pasting" information from other sites, you will NOT receive any credit for this project.

List your name and the disease you wish to research below.  You may not work on a disease that has already been "claimed" by another student.  You can claim a disease by simply posting a link below... you do not need to start your project page immediately.

Mai-Lee Picard - Menkes Syndrome

Hannah Ajmani- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency)

Ben Ballintyn - abetalipoproteinemia

Edward Kong - Neurofibromatosis Type 1

Sarah Meyers-Cystic Fibrosis

Ashley Hough- Cartilage-Hair Hypoplasia

James Ross: Hypophosphatasia

Connie Wang: Achondroplasia

Logan McGowan- MCD Deficiency

Douglas Ober-Wolman disease

Neil Steiner: N-acetylglutamate synthase deficiency

Ricardo Vollbrechthausen: Familial Lipoprotein Lipase Deficiency.