List of Genetic Disorders
Achromatopsia
Aicardi Syndrome
Albinism
Alexander Disease
Alpers’ Disease
Alzheimer’s Disease
Angelman Syndrome
Autism
Bardet-Biedl Syndrome
Barth Syndrome
Best’s Disease
Bipolar Disorder
Bloom Syndrome
Canavan Syndrome
Cancer Genetics
Carnitine Deficiencies
Cerebral Palsy
Cleft Lip/Cleft Palate
Coffin Lowry Syndrome
Color Blindness
Heart Defects
Hip Dysplasia
Cooley’s Anemia
Corneal Dystrophy
Cystic Fibrosis
Cystinosis
Diabetes
Down Syndrome
Epidermolysis Bullosa
Familial Dysautonomia
Fibrodysplasia
Fragile X Syndrome
Deficiency Anemia
Galactosemia
Gaucher Disease
Gilbert’s Syndrome
Glaucoma
Hemochromatosis
Hemoglobin C Disease
Hemophilia/Bleeding Disorders
Hirschsprung’s Disease
Homocystinuria
Huntington’s Disease
Hurler Syndrome
Klinefelter Syndrome
Macular Degeneration
Marshall Syndrome
Menkes Disease
Metabolic Disorders
Microphthalmus
Mitochondrial Disease
Mucolipidoses
Muscular Dystrophy
Neonatal Onset Multisystem Inflammatory Disease
Neural Tube Defects
Noonan Syndrome
Optic Atrophy
Osteogenesis Imperfecta
Peutz-Jeghers Syndrome
Phenylketonuria (PKU)
Pseudoxanthoma Elasticum
Progeria
Scheie Syndrome
Schizophrenia
Sickle Cell Anemia
Skeletal Dysplasias
Spherocytosis
Spina Bifida
Spinocerebellar Ataxia
Stargardt Disease (Macular Degeneration)
Stickler Syndrome
Tay-Sachs Disease
Thalassemia
Treacher Collins Syndrome
Tuberous Sclerosis
Turner’s Syndrome
Urea Cycle Disorder
Usher’s Syndrome
Werner Syndrome
XXX Syndrome
XYY Syndrome
Genetics Project – Test Grade
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 an informational brochure or poster to explain the genetic disorder. Due
February 26 or 27 (Depending if you are Gold Day or Black Day). You will have one research
day in the computer lab and ½ a class day to work on your project.
Your multimedia presentation (brochure / poster) 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?
Describe how the disorder is inherited. Is it a recessive or dominant trait? Which
chromosome is the gene for the disorder located on? Is this disorder more likely to occur in
certain populations? Are there environmental factors or influences?
How is the disorder diagnosed? How does a person receive the disorder? Is it sex-linked? Is
it a mutation? Is it due to heredity?
You will need to find out all of the signs and symptoms of the given disorder and share these
with the class.
What types of treatment there are for the disorder? . What is the status of research on
the disease? This information could also include therapy or ways the individual with the
disorder adapts.
Make a drawing of how the disorder is inherited (such as a Punnett square or
Pedigree – extra 5 points for a pedigree)
Include a suggested list of readings and/or Internet sources that may be of interest to the
class.
You are encouraged to share any other information that you feel is relevant.
The Grade:
You will be graded on a rubric as follows:
15% Research
70% Media
Presentation
Brochure: Like
what you get at the
doctor’s office.
There are forms
for this on the
internet and links on
my web page.
Poster should be
the small poster
size 11”X18”
You may type,
print, draw, collage,
paint, or use
printed pictures. It
is up to you. Notice
neatness and
creativity count.
10% Oral
Presentation
5% On Time
5 points Extra
Credit
10 points Extra
Credit
10 points Extra
Credit
15% Fill out the research form from the computer research. Turn in on Research
day.
10% - What is the name of the disorder and what is the history behind the
disorder? Who discovered it or/and who has done research on the disease?
10% Describe how the disorder is inherited. Is it a recessive or dominant trait?
Which chromosome is the gene for the disorder located on? Is this disorder more
likely to occur in certain populations? Are there environmental factors or
influences?
5% PICTURES INCLUDED
5% Make a drawing of how the disorder is inherited (such as a Punnett square or
pedigree)
10% How is the disorder diagnosed? How does a person receive the disorder? Is it
sex-linked? Is it a mutation? Is it due to heredity?
10% You will need to find out all of the signs and symptoms of the given disorder
and share these with the class.
10% What types of treatment there are for the disorder? What is the status of
research on the disease? This information could also include therapy or ways the
individual with the disorder adapts.
5% Include a suggested list of readings and/or Internet sources that may be of
interest to the class.
5% You are encouraged to share any other information that you feel is relevant
5% creativity
5% neatness, legibility
5% Orderly and Informative, Correct information is shared
5% Professional, clear speaking
Turned in by due date – 10 points off for each late day
Early - Turned in before March 25. Must be good and thorough work.
Professional and Informative enough to keep as a permanent classroom display.
Include an article from a periodical (Medical Journal or Magazine like Time) that
discusses genetic disorders. The article must be within the last two years. It must
be an original of the article or a good copy of the original – no cutting and pasting
off the internet. The librarian can help you search for this.
Name________________ Date ____________ Period ____
Research Notes
Name of Genetic Disorder: _____________________________________________
Who discovered it? ___________________________________________________
History of the disorder: _______________________________________________
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How is the disorder inherited? ___________________________________________
Is it a recessive or dominant trait? __________________________________________
Which chromosome is the gene for the disorder located on? ________________________
Is this disorder more likely to occur in certain populations? ________________________
Are there environmental factors or influences? _________________________________
How is the disorder diagnosed?
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How does a person receive the disorder? Is it sex-linked? Is it a mutation? Is it due to
heredity?
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Signs and Symptoms
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Treatments and Research
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Suggested Readings or Web pages (include titles and authors; web page addresses)
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Other Interesting Facts
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