Genetic Disorder / Abnormality Research Paper
You have been challenged to incorporate your knowledge about cells,
cell division, genetics, and DNA to research a specific genetic
disorder. You have already completed your basic study about the
ideas of genetics and mutations. Now with the information that you
have learned you are being asked to research a specific genetic
disorder and write a research paper.
Choose from the following disorders:
 Achondroplasia (Dwarfism)
 Albinism
 Adrenal hyperplasia
 Autism/ Asperger syndrome
 Cystic Fibrosis
 Down Syndrome (Trisomy 21)
 Duchenne Muscular Dystrophy
 Familial Dysautonomia
 Gardner syndrome (intestinal polyposis)
 Gaucher’s Disease
 Hemophilia
 Huntington’s Disease
 Jacobsen Syndrome
 Klinefelters Syndrome
 Klippel-Feil Syndrome
 Leukodystrophy
 Lou Gehrig’s Disease (ALS)
 Marfan Syndrome
 Moebius Syndrome
 PKU
 Polycystic Kidney Disease
 Progeria
 Proteus Syndrome
 Retinoblastoma
 Rett’s Syndrome
 Sickle Cell Anemia
 Spinocerebellar Ataxia
 Tay-Sachs Disease
 Tourette Syndrome
 Turner Syndrome
Rough Draft of Paper Due: Friday, November 1st
Final Copy of Paper Due: Wednesday, November 6th
You will need to include the following information in the paper.
1. Characteristics of the Disease
a. What is the name of the disorder and what is the history behind
the disorder? Who discovered it or/and who have done research on
the disease?
b. Is it more common in some ethnic groups? If so, describe. Is the
disorder more common in some parts of the world than others? If
so, where?
2. How does the genetic problem affect the genetic code?
a. What chromosome is it on?
b. Is it dominant, recessive, polygenic inheritance, multiple alleles,
sex- linked, codominance, or incomplete dominance?
c. Who passes it on? Mom or Dad?
d. Is it passed on to the children?
e. Is it a gamete or body cell disorder?
3. How does the disorder manifest itself?
a. How does it make a person look or act?
b. Can you tell by looking at a person that they are affected?
c. How does it make the person different?
d. Does it start in infancy or is it adult onset?
4. How does it change their life?
a. How does it change the life of the affected individual?
b. How does it change the life of the family?
c. What do you have to do differently?
d. What provisions have to be made for later?
5. Is there any special medical care or medicine required?
6. Are there special services or support groups that can help?
7. Please include anything else you find about cures,
research or anything you deem important.
Paper Guidelines for rough draft and final drafts:
1. Must be typed using 12-point font and 1” margins.
2. Double Spaced
3. Times New Roman ONLY.
4. Use only white paper.
5. You must include a reference page in MLA format with at least 5
references; three must be from scholarly journals. DO NOT use
Wikipedia !
6. Emailed papers will be accepted under the condition that they are
sent as attachments. Formatting issues with attachments will not be
accepted and no deadline extension will be provided.
Yes Test: You must receive all “yeses” for your paper to be scored. Any
“no” will stop the process.
Yes
No
Basic Requirement
1. Paper typed
2. Disorder clearly stated in intro and referenced in the
conclusion
3. Correct documentation style used in text (APA)
4. Citing evident
5. Minimum 5 sources
6. References accurate and correctly formatted
7. Paper written 3rd person
8. Paper meets minimum length standard (5 pages,
excluding Title Page and References or 3 pages if an
adequate visual display is created)
9. Evidence of consistent and conscientious editing