Name_____________________________
Date
Period________
Genetic Disorder Presentation Project
Overview: You and your partner are to create a PowerPoint presentation that will be used to teach the class about a
genetic disorder. The presentation should provide the class with information about an assigned genetic disorder.
The presentation should be creative as well as informative. 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” slide. (www.google.com DOES NOT count)
PowerPoint: You and your partner will research your assigned genetic disorder and provide the following
information on your presentation. One of you will act as the geneticist, the other the physician treating the disorder.
The geneticist will be responsible for the following information:
 Cause of Disorder (examples: category of mutation, nondisjunction) (For all point mutation disorders,
include the missing or mutant protein that is the cause of these symptoms. For all chromosomal mutation
disorders, include a karyotype in a form that can be effectively shown to the class.)
o be sure to include the gene or chromosome that is affected by this disorder; examples: X, Y, #21)
 Mode of Inheritance (examples: sex-linked, recessive, and/or dominant, random)
The physician treating the disorder will be responsible for the following information:
 Symptoms of Disorder
 Populations Affected (example: gender, race, anybody)
 Medical Treatments (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?)
General information that should be included into your presentation include:
 The name of the disorder and any common names it might also be recognized by.
 Graphics should be used to enhance your presentation.
 Works Cited (At least four sources are required for this project. More than four is acceptable, and encouraged!
Give credit for graphics you did not make.)
Presentation: After researching the disorder you and your partner will be responsible for teaching the class about
your disorder. All of the above information must be included in the presentation. All slides must be easily readable
and should include graphics to enhance your presentation. It must fully inform the class of all issues pertaining to
your assigned genetic disorder. Your presentation will be graded based on accuracy, completeness, and creativity.
You will turn in a hard copy of your presentation the day presentations are to begin. (You may print the handout
version so that it will print 6 slides per page.)
Possible Internet Resources:
 Center for Disease Control Genetic Information
o http://www.cdc.gov/genetics/info.htm
 International Birth Defects Information Systems
o http://ibis-birthdefects.org/index.htm
 National Center for Biotechnology Information
o http://www.ncbi.nlm.nih.gov/disease/
 Genetic Alliance
o http://www.geneticalliance.org/
 Howard Hughes Medical Institute
o http://www.hhmi.org/genetictrail/
 National Institute of Health Office of Rare Diseases
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o http://rarediseases.info.nih.gov/
Genetics Education Center
o http://www.kumc.edu/gec/
Medline Plus
o http://www.nlm.nih.gov/medlineplus/ency
clopedia.html
Your Genes, Your Health:
o http://www.ygyh.org/
Genome project:
o www.genome.gov/10001204
http://ghr.nlm.nih.gov
Class Period:
Name of Disorder
Alzheimer Disease
Angelman Syndrome
Cat Eye Syndrome
Cri-du-Chat
Cystic Fibrosis
Duchenne Muscular Dystrophy
Dyslexia
Edwards Syndrome
Fragile X
Haemochromatosis
Hemophilia
Huntington's Disease
Klinefelter's Syndrome
Marfan Syndrome
Neurofibromatosis
PKU
Prader-Willi Syndrome
Progeria
Sickle Cell Anemia
Tay Sachs Disease
Trisomy 21
Turner's Syndrome
Geneticist
Doctor
Genetic Disorder Presentation Rubric (Geneticist) - Name:
Period:
General: 12 Points
 Graphics: At least 4 are used (excluding karyotype, if required) and relevant to presentation……………………..…………….….……____/4
 Works Cited: At least 4 sources are cited giving credit to both content and graphics used in your presentation…………..……____/4
 Slide Layout: Slides are clearly laid out illustrating main points (hint: a slide shouldn’t have entire paragraphs “cut and pasted”
from a website)…………………….………………………………………………………………………………………………………………………….…………...……____/2
 Presentation: Presenter understands information they are presenting and can clearly explain topic (hint: presenters shouldn’t
have to read everything off of the slide and never look at the class)…………………………………………………………………………..…….…____/2
Geneticist Content: 18 points
Please check the box to the left if your disorder is caused by non-disjunction or a chromosomal mutation: examples of these
disorders include monosomy, trisomy, and clear damage to all or part of a CHROMOSOME.
 The following elements should be included in your presentation………………..………………………………………...…….…….…….………____/18
scientific and common name of disorder, if available (2 pt.)
identification of mode of inheritance: nondisjunction,
specific chromosome # that is affected by disorder (4 pts.)
random mutation, inherited mutation, and/or sex-linked
detailed description of how the chromosome pair is
disorder (2 pts.)
different from a non-affected person (4 pts.)
explanation of how mode of inheritance works (2 pts.)
karyotype of an affected person with the disorder (4 pts.)
OR
Please check the box to the left if your disorder is caused by a gene mutation: examples of these disorders include any disease
linked to the mutation of a single gene (not chromosome) and/or affect a single protein in the body.
 The following elements should be included in your presentation………………..…………………………….………………...…….…….………____/18
 scientific and common name of disorder, if available (2 pt.)
identification of mode of inheritance: random mutation,
specific gene that is affected by disorder (5 pts.)
inherited mutation, dominant, recessive, sex-linked, codominant,
detailed description of missing or mutant protein (5 pts.)
and/or incomplete dominant disorder (3 pts.)
explanation of how mode of inheritance works (3 pts.)
Total Points Out of = ____ out of 30 = ________%
Comments:
Genetic Disorder Presentation Rubric (Doctor) - Name:
Period:
General: 12 Points
 Graphics: At least 4 are used (excluding karyotype, if required) and relevant to presentation……………………………..…….….……____/4
 Works Cited: At least 4 sources are cited giving credit to both content and graphics used in your presentation…….……….…____/4
 Slide Layout: Slides are clearly laid out illustrating main points (hint: a slide shouldn’t have entire paragraphs “cut and pasted”
from a website)…………………….………………………………………………………………………………………………………………………………….…...……____/2
 Presentation: Presenter understands information they are presenting and can clearly explain topic (hint: presenters shouldn’t
have to read everything off of the slide and never look at the class)………………………………………………………………..……………….…____/2
Doctor Content: 18 points
 The following elements should be included in your presentation (3 pts. each)………………..………………………………….…….………____/18
detailed list of general symptoms
medical assistance or supports needed by patient
medical assistance or supports needed as patient ages
long term outlook (quality of life) of patient
treatment for symptoms and/or possible cures
populations affected (do any specific genders, ages, races, or ethnicities seemed to being affected more often than others)
Total Points Out of = ____ out of 30 = ________%
Comments: