GENETIC DISORDER TERM PROJECT: 50 POINTS
DUE DATE ______
YOU ARE GOING TO RESEARCH A GENETIC DISORDER OF INTEREST TO YOU. AFTER YOU HAVE DONE THE RESEARCH, YOU ARE GOING
TO CREATE A PROJECT AAND ORAL PRESENTATION ENT THE INFORMATION TO YOUR CLASSMATES. YOU MUST ANSWER ALL OF THE
LISTED OBJECTIVES AND SHOULD REPRESENT THIS INFORMATION IN A CLEAR AND EASY-TO-UNDERSTAND MANNER.
(LATE PROJECTS WILL NOT BE ACCEPTED)
YOU MUST FIND THE GENE AND CHROMOSOME THAT IS AFFECTED TO GET CREDIT FOR THIS PROJECT.
PART ONE: RESEARCH SUMMARIES (10 POINTS)
Students must have a minimum of 5 resources for their project. Students will need to do 5 summaries as part of their research.
Each summary is worth 2 points (must provide URL for full credit)
PART TWO: PROJECT PLANNER (35 POINTS)
A. The project planner must be completed to have your Oral Presentation graded.
B. Information not on the planner will not be graded for the final score.
PART THREE: ORAL PRESENTATION (5 POINTS): 2-3 MINUTES
A. Name of disorder
B. Gene Affected
C. Chromosome affected
D. Autosomal or Sex-Linked
E. Dominant or Recessive
F. At Least (2) Interesting Facts
1. WHAT IS IT?
This section of your project should deal with background information on the disease under study. This might include
the physical effects of the disease and how it was first discovered.
2. HOW IS IT INHERITED?
This section of the project should deal with the specifics on how the disorder is inherited. For some disorders, this
might be a problem on a specific gene; other disorders are caused from a chromosomal abnormality. When
completing this portion of your project it is important to be very specific. Information on the specifics of the problem
can generally be found when researching the background information for the disease.
3. WHAT GENE & CHROMOSOME DOES IT AFFECT?
For most diseases there is information about the chromosome or gene affected that causes the disease. You must
include the chromosome and gene. Be sure to be thorough. If you do not include this information you will not get
credit for the project.
4. WHO GETS THE DISORDER?
This section should detail the different nationalities, or specific gender, that gets the disease. Many genetic diseases
affect races at differential rates due to the marriage and breeding practices. This section may also contain the age at
which most people are diagnosed with the disease.
5. GENETIC TESTING
This section should deal with how the disease is diagnosed, taking into consideration any current methods of
detecting the disease. Some diseases may be diagnosed with blood tests and karyotyping. Others may not. It is
important to be specific on how the particular abnormality is detected.
6. TREATMENTS
This section should deal with current and future applications of treatments for the disease. This may include gene
therapy, medications and/or preventative procedures. Please also note the negative and positive aspects of the
different types of therapy available.
7. CURRENT RESEARCH
This should include any information on research that is being done to find a treatment or cure for this particular disease;
8. DIAGRAMS (PUNNET SQUARE AND PEDIGREE)
The pictures or diagrams must relate back to the information discussed in your project. So either talk about them in the
project, or give them a caption.
 This MUST include 1 family pedigree and at least one Punnett squares. (Must be created by you)
9. REFERENCES
a. You must cite all sources in MLA format.
b.
References must be posted on the back. Minimum of 5 (2 max from internet).
 Author’s Name. Title of Book. City: Publisher, Year.
 Author’s Name. “Title of Article.” Title of Publication Date Published: Pages.
 Author’s Name. “Title of Online Article.” Title of Online Publication Version (Year Published): Pages. Date Accessed <Web
address>.
GENETIC DISORDER TOPICS
1st Choice will be given to students, who have that disorder in their immediate family, or other close relation.
If you would like to do a disorder not listed here, please let me know…
As long as you can find the gene and chromosome, you can do the disorder
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Achondroplasia (dwarfism)
Adrenoleukodystrophy (ALD)
Albinism
Alkaptonuria
Alport Syndrome
Asthma
 Autosomal Recessive Polycystic Kidney Disease
 Birt-Hogg-Dube Syndrome
 Cystic Fibrosis
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Campomelic Dysplasia
Duchenne Muscular Dystrophy
Fabry disease
Fibrodysplasia Ossificans Progressiva
Friedrich’s Ataxia
Gaucher's disease
Hemophilia
Hemochromatosis
Hereditary Breast Cancer
 Hereditary Coproporphyria
 Hereditary nonpolyposis colorectal cancer
 Hypertrophic Cardiomyopathy
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Huntington's Disease
Incontinentia Pigmenti
Krabbe's Disease
Leber's Congenital Amaurosis
Long QT Syndrome
Marfan Syndrome
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Myotonic dystrophy
Neurofibromatosis
Osteogenesis Imperfecta
Phenylketonuria
Pompe
Retinitis Pigmentosa
 Shprintzen syndrome
 Sickle Cell Anemia
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Tay Sachs
Treacher Collins Syndrome
Usher Syndrome
Von Hippel-Lindau
Waardenburg syndrome
Wilson’s Disease
Xeroderma Pigmentosa
MLA Format
Works Cited
Author’s Name. Title of Book. City: Publisher, Year.
Author’s Name. “Title of Article.” Title of Publication Date Published: Pages.
Author’s Name. “Title of Online Article.” Title of Online Publication Version (Year Published): Pages.
Date Accessed <Web address>.
“Title of Article.” Title of Media. CD-ROM. City: Publisher, Year.
USEFUL WEBSITES
Genetics Reference Site http://ghr.nlm.nih.gov/
Human Chromosome Map http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.chapter.272
General Genetics Information http://gslc.genetics.utah.edu/
National Human Genome Research Institute: www.genome.gov
Genetic Disorders & Birth Defects Information Center: http://geneinfo.medlib.iupui.edu
NBCI: Genes and Disease: www.ncbi.nlm.nih.gov/disease
Office of Rare Diseases: http://rarediseases.info.nih.gov
Name ___________________________________________________________
Per ______________
NAME OF GENETIC DISORDER:
_______________________________________________________________________
OTHER NAMES:
___________________________________________________________________________________
BACKGROUND INFORMATION should include information about symptoms, history or discovery and other interesting info
1.
______________________________________________________________________________________________
2. _______________________________________________________________________________________________
3. _______________________________________________________________________________________________
4. _______________________________________________________________________________________________
5. _______________________________________________________________________________________________
6. _______________________________________________________________________________________________
7. _______________________________________________________________________________________________
8. _______________________________________________________________________________________________
9. _______________________________________________________________________________________________
10. _______________________________________________________________________________________________
11. _______________________________________________________________________________________________
12. _______________________________________________________________________________________________
13. _______________________________________________________________________________________________
14. _______________________________________________________________________________________________
15. _______________________________________________________________________________________________
INTERESTING FACT(S):
1. _______________________________________________________________________________________________
2. _______________________________________________________________________________________________
HISTORY OF DISCOVERY OF THE DISORDER
__________________________________________________________________________________________________
__________________________________________________________________________________________________
GENE(S) AFFECTED: _________________________________________________________________________________
CHROMOSOME(S) AFFECTED: _________________________________________________________________________
MODE OF INHERITANCE
 Autosomal or Sex linked
 Dominant or Recessive
WHO GETS THE DISORDER:
Gender: ______________________________________ Age: _________________________________________
Specific ethnic group: ___________________________
GENETIC TESTING (how they know someone has it)
1. ___________________________________________________________________________________________
2. ___________________________________________________________________________________________
3. ___________________________________________________________________________________________
4. ___________________________________________________________________________________________
TREATMENTS (what they do when they know someone has it)
1. ___________________________________________________________________________________________
2. ___________________________________________________________________________________________
3. ___________________________________________________________________________________________
4. ___________________________________________________________________________________________
CURRENT RESEARCH (what they are learning currently about this disorder)
1. __________________________________________________________________________________________
2. __________________________________________________________________________________________
3. __________________________________________________________________________________________
4. __________________________________________________________________________________________
Where you found the research URL: ___________________________________________________________________
DIAGRAMS: Use the spaces provided to create a punnet square and a pedigree for your genetic disorder.
 Punnet square: Make sure to label gametes, genotype and phenotype ratios.
 Pedigree: 3 generations of a family with your genetic disorder.
 Make sure to label each generation, each individual and all genotypes, make sure to shade all carriers correctly.
 State whether it is autsomal or sex-linked, dominant or recessive.
Punnet Square
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Pedigree
MLA (Works Cited): Examples for creating work cited page are on the project paper
1. ___________________________________________________________________________________________
2. ___________________________________________________________________________________________
3. ___________________________________________________________________________________________
4. ___________________________________________________________________________________________
5. ___________________________________________________________________________________________
PRESENTATION
You will be giving a 2-3 minute presentation on your genetic disorder… during which you must tell you classmates
Your handwritten notecard should include all of the following
 What Gene is effected
 What Chromosome is affected
 If the disorder is Autosomal or Sex-linked
 If the disorder is Recessive or Dominant
 Share at least two (2) interesting facts about your disorder.
 You must have (1) 8x11 color picture of what the disorder looks like
 You must have (1) 8x11 color picture of a handmade punnett square and pedigree for the disorder