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You have been challenged to incorporate your knowledge about cells, cell division, genetics, and DNA to research

and present on 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 you are being asked to research a specific genetic disorder and give an oral presentation along with creating either a PowerPoint or
poster to explain the genetic disorder.

Your multimedia presentation (powerpoint) along with your oral presentation should include the following points.

• 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?

• How is the disorder diagnosed/detected?

• How does a person receive the disorder? Is it sex-linked? Is it a mutation? Is it due to heredity?

• All of the signs and symptoms of the given disorder.

• What types of treatment are there for the disorder?

• Include a suggested list of readings and/or Internet sources that may be of interest to the class (your bibliography).

• A three question quiz at the end of the presentation intended to be taken by your classmates.

• You are encouraged to share any other information that you feel is relevant or important for others to know about the genetic disorder.

List of possible Genetic Disorders to Present:

• Achondroplasia (Dwarfism) • Leukodystrophy


• Albinism • Lou Gehrig’s Disease (ALS)
• Adrenal hyperplasia • Marfan Syndrome
• Autism/ Asperger syndrome • Moebius Syndrome
• Cystic Fibrosis • Polycystic Kidney Disease
• Down Syndrome (Trisomy 21) • Progeria
• Duchenne Muscular Dystrophy • Proteus Syndrome
• Familial Dysautonomia • Retinoblastoma
• Gardner syndrome (intestinal polyposis) • Rett’s Syndrome
• Gaucher’s Disease • Spinocerebellar Ataxia
• Hemophilia • Tay-Sachs Disease
• Huntington’s Disease • Tourette Syndrome
• Jacobsen Syndrome
• Klinefelters Syndrome • Turner Syndrome

• Klippel-Feil Syndrome

List of internet resources that may be helpful to you in creating your presentation:

Yahoo - Genetic Disorders http://dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders/.


Site explains several different disorders and contains links to all of the different types of genetic disorders.

Genetic & Rare Conditions Sitehttp://www.kumc.edu/gec/support/.


links to different types of disorders in alphabetical order.

What can our chromosomes tell us? http://biology.about.com/science/biology/gi/dynamic/offsite.htm?


site=http://gslc.genetics.utah.edu/.
A site that talks about karyotyping of genotypes.

Genetic Disorder Library


http://learn.genetics.utah.edu/units/disorders/whataregd
To learn more about different genetic disorders, browse through the Genetic Disorder Library.

A Genetics Glossary http://biology.about.com/science/biology/gi/dynamic/offsite.htm?


site=http://helios.bto.ed.ac.uk/bto/glossary/index.html
A basic genetic glossary.

Genetics Education Center http://www.kumc.edu/gec/.


Seeks to help educate people about genetics.

The National Human Genome Research Institute http://www.nhgri.nih.gov/.


Explains about the human genome project.
Department of Energy - Human Genome Project Information http://www.ornl.gov/hgmis/.
Provides a lot of information about the human genome project.

A Gene Map of the Human Genome http://www.ncbi.nlm.nih.gov/science96/.


You can see the mapping of several different chromosomes found within the body.

Learning about the Human Genome Project and Genetics through the World Wide Web http://www.kumc.edu/gec/hgpwww.html.
Looks at the ethical issues of genetic research.

Understanding Gene Testinghttp://www.accessexcellence.org/ae/AE/AEPC/NIH/index.html.


This site talks of how genes are linked to disease and how a gene creates a genetic disorder.

Basics of DNA Fingerprintinghttp://www.biology.washington.edu/fingerprint/dnaintro.html.


Explains the basic understanding of DNA fingerprinting.

What is Genetic Testing? http://www.lbl.gov/Education/ELSI/Frames/genetic-testing-f.html.


Shows the basics of genetic testing and talks about the ethical issues of that happen due to genetic testing.
Name: ____________________________ Class Period: _____________ Date: ______

Rubric for Evaluation of Genetic Disorder Presentation .


Beginning Developing Accomplished Exemplary Total
5 points 10 Points 15 Points 20 Points Score
Bare minimums have All information present
Minimums plus slight
been accomplished. Little and complete. Some Information is well
Oral extras added.
understanding about the problems with flow and thought out, flows
Answered questions
Presentation genetic disorder delivered delivery. Shows more well, all information is
from the intro and at
Quality of in oral presentation. or less some completed, Appears to
least one question
Information Could only read slides understanding of have been practiced,
posed to them in the
with no further knowledge - has minor knowledge shown.
process section.
understanding. flaws.
Bibliography
At least 2 web sites At least 6 web sites or
Amount of At least 4 web sites or
or books accessed books accessed and
books accessed and
additional No additional reading lists and verified in verified in
verified in presentation
Information for or websites provided presentation and
and presented in
presentation and
reading and presented in presented in
bibliography.
bibliography. bibliography.
websites found
and presented
Organized effectively
Organization of Random information is Disorganized at
Organized with easy
presentation presented times.
understanding.
Use of class
Majority of class time was Half of class time Little class time was No class time was
time working on
wasted. was wasted. wasted. wasted.
project
Neatly done,
organized, proper
Disorganized Spelling errors spelling, all parts
Overall Easily understood by
Not Completed present included, above and
all. Includes graphics
Multimedia Missing Key Component presentation has beyond effort.
and data tables of
Presentation Questions some flow to it but is Information that is
information retrieved.
no graphics. choppy. presented is
aesthetically pleasing
to the eye.

TOTAL SCORE

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