Genetic Disorder Project and Presentation
(modified from a project found on the Robbinsdale School District website)
Overview
Create a digital presentation (PowerPoint, Prezi, Microsoft Movie, Vuvox, etc.) for a doctor’s office waiting
room. The presentation should provide patients with information about one of the genetic disorders listed
below. Assume that most of the patients of your audience are adults with a typical high school science
background. The presentation should be creative as well as informative. You want people to watch it and be
able to understand it. Be sure to include accurate, up-to-date information and graphics that illustrate
important ideas. You should reference at least four sources of information on a separate “works cited”
page to hand in along with your presentation. (Google, Wikipedia and Ask.com DO NOT count.)
Bibliography should be in correct format; www.easybib.com is an excellent resource to use to create your
works cited pages.
Procedure
You will research the genetic disorder of your choice and use the following questions. as a guide, to the type
of information you will need for your brochure.

What other names are there for this disorder? (Any common names?)

What gene or chromosome is affected by this disorder? (X, Y, #21)

What causes the disorder? Is the disorder a point mutation or a frame-shift mutation? Provide
specific evidence for your answer in the form of the normal and mutated DNA sequences. (If this
question cannot be answered due to a lack of scientific knowledge, state this very clearly in your
pamphlet.)

What is the name of the protein that is affected? What does this protein normally do for the body?
What effect does the defective protein have on the body?

Are there prenatal tests for this disorder?

What are the symptoms?

What population is affected? (ethnic group or nationality) Can anyone be a candidate for the
disorder?

What is the inheritance pattern? (Is it sex-linked, recessive, and/or dominant?)

How is the disorder typically passed down within a family? Use a Punnett Square and pedigree to
support your written explanation.

How is the condition or disorder diagnosed? Explain what the diagnostic tests look for.

What kind of medical assistance will the affected child need? Will further assistance be needed, as
the child grows older? What is the long-term outlook for the child?

Describe any treatments or cures.

Could this disorder have been prevented?

Can this individual have children in the future? Will those children be affected?

What is the current status of research on this disorder? Is there a cure coming soon? (DO NOT say
there is no hope… find something.)
Power Point Presentation
After researching the disorder, make a presentation that could be shown to patients. The presentation must
be a minimum of 10 slides. This presentation should be of professional quality. It must fully inform the
patient of all issues pertaining to the genetic disorder. Again, use the questions provided to guide your
research. Your presentation will be graded based on accuracy, completeness, and creativity. Visual
representations (pictures, graphs, etc.) should be incorporated into the brochure. Remember to check spelling,
grammar, punctuation and other conventions.
Give credit for graphics you did not make.
Works Cited Page
You will need to prepare, on a separate sheet, a works cited page that identifies all sources used to make the
presentation. At least four sources are required for this project. More than four is acceptable, and
encouraged! (Be sure to use proper format; do not just list websites, list author, title, date, etc.)
Possible Internet Resources (use google.com to search for other sites)
Online Mendelian Inheritance in Man
Center for Disease Control Genetic Information
International Birth Defects Information Systems
National Center for Biotechnology Information
Genetic Alliance
Howard Hughes Medical Institute
National Institute of Health Office of Rare Diseases
Genetics Education Center
List of Genetic Diseases
(Circle the one you have chosen)
Achondroplasia
Adrenoleukodystrophy
Albinism oculocutaneous
Alport Syndrome
Angleman Syndrome
Canavan Disease
Cat Eye Syndrome
Charcot Marie Tooth
Cockayne Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome (Trisomy 21)
Duchenne Muscular
Dystrophy
Edwards Syndrome
Familial Mediterranean Fever
Galactosemia
Gaucher Disease
Gyrate Atrophy
Hemophilia A
Hemophilia B
Huntington’s Disease
Hurler Syndrome
Jacobson Syndrome
Krabbes Disease
Marfan Syndrome
Monsomy 9p or Alfi’s Syndrome
Mytonic Dystrophy (Steinert Disease)
Nail Patella Syndrome
Neimann-Pick Disease
Neurofibromatosis
Osteogenesis Imperfecta
Patau Syndrome or Trisomy 13
Phenylketonuria
Pompe’s Disease
Prader-Willi Syndrome
Refsum Disease
Rentinitis pigementosa
Rett Syndrome
Sickle Cell Anemia
Smith-Magenis Syndrome
Von Hippel-Lindau Syndrome
Williams Syndrome
Wilson’s Syndrome
Wolrf Hirschhorn Syndrome
Genetic Disease Notes
What other names are there for this disorder? (Any common names?)
What causes the disorder? (mutation, nondisjunction)
What gene or chromosome is affected by this disorder? (X, Y, #21)
Are there prenatal tests for this disorder?
What are the symptoms?
What population is affected? Can anyone be a candidate for the disorder?
How is it inherited? (Is it sex-linked, recessive, and/or dominant?)
What kind of medical assistance will the affected child need? Will further assistance be needed, as the child
grows older? What is the long-term outlook for the child?
Are there any treatments or cures?
Could this disorder have been prevented?
Can this individual have children in the future? Will those children be affected?
What is the current status of research on this disorder? Is there a cure coming soon?
Sources:
Genetic Disease Presentation Rubric
25
15
10
5
0
All facts in the
Presentation are
accurate.
Content is well
organized
using headings
or bulleted lists
to group related
material.
99-90% of the
facts in the
presentation are
accurate. Uses
headings or
bulleted lists to
organize, but
the overall
organization of
topics appears
flawed.
89-80% of the
facts in the
presentation are
accurate.
Fewer than 80%
of the facts in
the presentation
are accurate.
Content is
logically
organized for
the most part.
Presentation not
submitted.
Student has
demonstrated
the ability to
answer
accurately all
questions related
to the selected
disease.
Student has
demonstrated
the ability to
accurately
answer most
questions
about the
selected disease.
Student has
demonstrated
the ability to
accurately
answer less than
half of the
questions about
the selected
disease.
Presentation
is
Rehearsed
with
Delivery not
Presentation
well rehearsed
fairly smooth
smooth, but able
with smooth
delivery that
to maintain
delivery that
holds audience
interest of the
holds audience
attention most of audience most of
attention.
the time.
the time.
Makes good use
Makes use of
Attractiveness Makes excellent
use of font, color, of font, color,
font, color,
graphics, effects, graphics, effects, graphics, effects,
etc. to enhance the etc. to enhance to etc. but
presentation.
presentation.
occasionally these
detract from the
presentation
content.
More than 4
4 original sources 3 original sources
Sources
original sources
used to gather
used to gather
used to gather
information for
information for
information for
presentation.
presentation.
presentation.
Source
Source
Source
information
information
information
collected for all
collected for
collected for all
graphics, facts
graphics, facts
graphics, facts
and quotes. All
and quotes, but
and quotes. All
documented in
not documented
documented in
desired format.
in desired format.
Student appears
to have little
knowledge
about the selected
disease.
Student did not
demonstrate any
learning from
this experience.
Delivery not
smooth and
audience
attention often
lost.
Presentation not
given.
Use of font, color,
graphics, effects
etc. but these
often distract
from the
presentaion
content.
Presentation not
given.
2 original sources
used to gather
information for
presentation.
Sources not cited
in the appropriate
format.
Fewer than 2
original used to
gather
information for
presentation.
Sources not cited
in the appropriate
format.
Category
Content Accuracy
Knowledge
Gained
Mechanics
and
Originality
desired format.
No misspellings
or grammatical
errors. Product
shows a large
amount of
original thought.
Ideas are creative
and inventive.
Three or fewer
misspellings
and/or
mechanical
errors. Product
shows some
original thought.
Work shows new
ideas and
insights.
Four
misspellings
and/or
grammatical
errors. Uses other
people's ideas
(giving them
credit), but there
is little evidence
of original
thinking.
5 errors in
spelling or
grammar. Uses
other people's
ideas, but does
not give them
credit.
More than 5
errors in spelling
or grammar.
Uses other people's
ideas, but does
not give them
credit.