Genetic Disorder Research Project
Introduction
Some disorders come from the environment. For example, diseases like the flu or AIDS are caused by
viruses that a person may become infected with.
Other disorders are due to mistakes in the genes. A person is born with such disorders. Such disorders
are usually inherited from the parents.
Assignment Guidelines
For this project you will research a genetic disorder from the list of possible topics below. There are
many genetic disorders to choose from and you will only need to research one type. You may do this
assignment alone or in a group of two students. Only one person or group may research a specific
disorder. Students who do not choose a topic will be assigned one. If you would like to choose a
genetic disorder not found in the list, be sure to ask your teacher before you begin your research.
Genetic/Chromosomal Disorders
 Adrenoleukodystrophy
 Albinism
 Amyotrophic Lateral
Sclerosis
 Angelman Syndrome/
Prader-Willi Syndrome
 Brachycactyly
 Canavan Disease
 Cri du chat Syndrome
(Cat’s Cry Syndrome,
Monosomy 5p)
 Cystic Fibrosis
 DiGeorge syndrome/
22q11.2 deletion syndrome
 Down syndrome
(Trisomy 21)
 Duchenne Muscular
Dystrophy
 Edward’s Syndrome
 Ehler Danlos Syndrome
 Familial Mediterranean
fever
 Fragile X Syndrome
 Galactosemia
 Hemophilia A or B
 Huntington Disease
 Ichthyosis
 Klinefelter Syndrome
(XXY Syndrome)
 Lesch Nyhan Syndrome
 Leber's Congenital
Amaurosis
 Maple Syrup Urine
Disease
 Marfan syndrome
 Patau Syndrome
 Phenylketonuria (PKU)
 Polycystic Kidney
Disease
 Sickle Cell Anemia
 Tay - Sachs disease
 Triple-X Syndrome
(Trisomy X)
 Bourneville disease/
tuberous sclerosis
 Turner’s syndrome
 XYY Syndrome
Presentation Requirements
When you have researched your disorder type, you will produce a Poster, Powerpoint or
Publisher presentation, ExplainEverything, or Xtranormal with the information you have
collected. The presentation must include the following information:
Introduction
 Name the disorder
 Introduce team members
Definition of the disorder
 What happens to the body?
 What part of the body does it generally affect?
Description of the symptoms
 List all of the possible effects on the body
Cause of the disorder
 What happens in the body to cause the disease?
 Is it a mutation? A genetic tendency triggered by other factors?
How the disorder is inherited
 Is it sex-linked?
 Is there a particular chromosome it is located on?
 Is it recessive or dominant?
 Make a drawing of how the disorder is inherited (Either a Punnette square or pedigree)
How the disorder is treated
 Medications? Gene therapy?
How the disorder is diagnosed
 What tests are done? Is genetic counseling an option?
How many and what type of people are likely to have the disorder
 Is it more common in a certain group of people?
 How common is it?
Cultural Relevancy
 Are there any famous people, or their family members, who have the disease?
 Does it show up on TV or the movies?
 Any superstitions regarding the disease?
Application of research article
 What new information did you learn from your research?
Useful Resources
http://gslc.genetics.utah.edu/
The Genetic Science Learning Center is a useful source to obtain information on genetic disorders.
http://www.ncbi.nlm.nih.gov/pubmedhealth/s/diseases_and_conditions/a/
A comprehensive library of human diseases.
National Human Genome Research Institute (NHGRI)
This site from a National Institutes of Health affiliate provides information on genetics, inherited
disease research, genetics and rare diseases, online resources, and the ethical, legal, and social issues
related to genetic research.
Grading Rubric
A
Introduction
Definition
Symptoms
Cause
Inheritance
Treatment
Diagnosis
How many and what
type of people are
likely to have the
disorder
Application of research
article
Attractiveness/
Presentation
B
C
D
Title can be read from
4 ft. away and
describes the content.
Includes group
members.
The title is too small
and/or does not
describe the content of
the poster well.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Answers each topic indepth with details and
examples. Subject
knowledge is
excellent.
Covers topic in-depth
with details and
examples. Subject
knowledge is
excellent.
Title can be read from
6 ft. away and
describes content well.
Includes group
members.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Answers essential
information about
topic. Subject
knowledge appears to
be good.
Includes essential
knowledge about the
topic. Subject
knowledge appears to
be good.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are
some factual errors.
Content is minimal OR
there are several
factual errors.
Includes essential
information about the
topic but there are 1-2
factual errors.
Content is minimal OR
there are several
factual errors.
The presentation is
exceptionally attractive
in terms of design,
layout, and neatness.
The presentation is
attractive in terms of
design, layout and
neatness
The presentation is
acceptably attractive
though it may be a bit
messy.
The presentation is
distractingly messy or
very poorly designed.
It is not attractive.
Title can be read from
6 ft. away and is quite
creative. Includes
group members.
Due Date: ___January 15, 2014_____
Genetic Disorder: ________________________________
Presentation Requirements
Earned Points
Possible Points
Introduction
Definition of the disorder
Description of the symptoms
Cause of the disorder
How the disorder is inherited
How the disorder is treated
How the disorder is diagnosed
How many and what type of people are likely to have the disorder
5
5
5
10
20
5
5
8
Cultural Relevancy
2
Application of research article
Attractiveness/Presentation
 Makes excellent use of font, color, graphics,
effects, etc. to enhance the presentation.
 Personal Presentation
o If you do not present in front of the class
this will be reflected in extra attention to
detail on poster/extranormal/powerpoint
Total Points Earned
5
5
5
80