Download Genetic Diseases Project

Genetic Disorders Project
Name(s):___________________________________________________________________ Date:______________ Period:_____
You are to choose a human genetic disease and do the following:
The Questions- Write the answers to these questions on your own paper (BE SURE TO PUT
YOUR NAME(S) ON IT. You’ll attach them to this sheet when you turn it in. NUMBER EACH
QUESTION ON YOUR PAPER!
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
Identify the disease – what is its common name and technical name.
On what chromosome is the defective gene located or which chromosome abnormality is
responsible for the disease?
What are the symptoms of the disease? Explain how a person’s body is affected by the
disease.
How is the disease diagnosed? Describe the tests that are performed in order to diagnose
the disease. (blood test, x-ray, MRI…) Can a person be directly tested to see if s/he has the
gene? Can amniotic fluid be tested to see if a baby is going to have this genetic disease?
What types of therapies or treatments are currently being done for the disease?
(Medications, physical therapy, etc.) What therapies are currently being researched for
the disease? (Medications for treating something specific, gene therapy, etc.)
Identify three people who are recognized for their research or intellectual contributions that led
to understanding this disease. Give a brief summary of what they did. One or two sentences
about each person and what s/he contributed to the knowledge base for the disease is needed.
Also tell where you found this information.
What is the closest place one can go to be seen by an expert in this field? What type of doctor is
considered to be an expert in this field? (Ophthalmologist, internist, neurologist, etc.)
Are there any celebrities who have the disease or who are a spokesperson to promote awareness
of the disease? If so, who? If you can not find a celebrity who has the disease or promotes
awareness of it, provide proof that you searched and came up with no appropriate responses.
Interesting facts or statistics about the disease. For example, if it affects a type of ethnicity or sex,
or age group, race, how often do people get the disease or how common is it, or other facts you
find that you feel are interesting.
How is the disease inherited: There are several different ways in which they can be inherited.
Determine whether your disorder is an autosomal dominant trait, an autosomal recessive trait, an
X-linked recessive trait, a chromosomal error or a multi-factorial trait (polygenic disorder).
Chromosomal errors may take several types: a particular missing chromosome (e.g. a missing X
chromosome), an extra chromosome (e.g. an extra chromosome 21), or a damaged chromosome
(e.g. part of a chromosome deleted). A multi-factorial disorder is one which is caused by several
genes or by a combination of genetic and environmental factors.
A summary about what you think about the disease, if you have family members or friends who
have the disease, any opinions you have about the disease, or important facts that you learned
while researching this disease.
You are expected to write as much information as possible. You will be graded on the content and
clarity of your information that you provide. Remember, you are trying your best to gather as much
info as possible to educate someone else about the genetic disease you have chosen. Be sure and
keep a Bibliography (sources for your answers) page and attach it to this sheet when you turn
it in. PUT YOUR NAME(S) ON THIS PAPER TOO!
Poster Instructions
After you have answered all of the questions on the front of this page and finished your
research on your disorder, you will create a poster (half of a poster board) to provide quick
information about your genetic disorder. Your poster does not need to include all of the
information you recorded in your answers, but it does need to provide the basic information
about the disease (bolded topics on the front) and one, or more, graphics to help others
understand the disorder at a glance. PUT YOUR NAME(S), and CLASS PERIOD ON THE BACK OF
YOUR POSTER IN PENCIL!
Some websites that might be helpful as you look for information: INCLUDE THESE IN
YOUR BIBLIOGRAPHY PAGE IF YOU USE THEM
1) What are genetic disorders?
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http://learn.genetics.utah.edu/content/disorders/whataregd/
2)
3)
4)
5)
6)
7)
8)
9)
Medline - http://ghr.nlm.nih.gov/
Center for Disease Control - http://www.cdc.gov/genomics/default.htm
Chromosome abnormalities - http://www.chkd.org/HealthLibrary/
Gene tests - http://www.geneclinics.org/
Genetic and rare conditions - http://www.kumc.edu/gec/support/
Dolan DNA learning Center - http://www.ygyh.org/
Genetic Disease Foundation - http://www.geneticdiseasefoundation.org/
Emory University- Department of Human Genetics http://genetics.emory.edu/page/index.php?assetID=53#factsheets
10) Wikipedia search - http://en.wikipedia.org/wiki/List_of_genetic_disorders
11) Yahoo search - http://dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders/
Rubric for Evaluation of Genetic Disorder Project
Beginning
5 points
Developing
10 Points
Accomplished
15 Points
Exemplary
20 Points
1-3 of the 11 points are
addressed. Minimal input
on the project.
4-6 of the 11 points are
7-10 of the 11 points are
addressed. Some input on the addressed. Most of the
project.
points are addressed.
11 of the 11 points are
addressed. Excellent input
on the project.
1 web site or book
accessed and verified in
bibliography. (Lack of
sources equals zero
points.)
At least 2 web sites or books
accessed and verified in
bibliography.
At least 3 web sites or
books accessed and
verified in bibliography.
At least 4 web sites or
books accessed and
verified in bibliography.
Organization of Random information is
Information
presented
Slightly organized
Organized
Organized effectively with
easy understanding.
Use of class time
Majority of class time was
working on
wasted.
project
Half of class time was wasted.
Little class time was
wasted.
No class time was wasted.
3-5 spelling errors present.
Some organization, but still
not neat. Some color. Few
and/or sloppy graphic(s).
Neatly done, organized,
proper spelling, above and
1-2 spelling errors. Easily
beyond effort.
understood by all.
Information that is
Includes graphics.
presented and graphic(s)
Colorful.
are aesthetically pleasing
to the eye.
Quality of
Information
Bibliography
(sources for
your research)
Poster Quality
Disorganized
Not colorful
Sloppy
No graphics. Lots of
spelling errors (more than
6 errors).
TOTAL SCORE
Total
Score