Download Genetic Disorder Research Project Introduction: There are

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
2. Answer the following questions in full sentences as you do your research.
a.
b.
c.
d.
What are the possible genotypes of the parents?
Describe the genotypic abnormality that results in the disease.
What are the physical symptoms and/or limitations related to having the disease?
What are the chances of a person with this disease passing the disease to their offspring
(include possible scenarios)?
e. How prevalent is the disease in the population (include statistics)?
f. How possible is it that a cure will be found (latest research)?
g. Include a Reflection section:
 3 things you found interesting
 2 unanswered questions
 1 way to help someone with the disorder
Helpful Websites:
1.
2.
3.
4.
5.
6.
http://dmoz.org/Health/Conditions_and_Diseases/Genetic_Disorders/
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.168
http://dnai.org
http://www.ygyh.org/
http://learn.genetics.utah.edu/content/disorders/whataregd
http://www.bibme.org  Free on-line APA formatting for “works cited”
Genetic Disorder Sign-up
Disease 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
Name