Genetic Disorders Research Project

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Name: __________________________________
Date _______________________
Genetic Disorder Research Project
My chosen disorder is _______________________________________________
Project Summary
Your job is to create an informative brochure that contains information about your assigned genetic
disorder.
Your audience is family members or friends who know someone with your chosen disorder. Assume
they are able to read, with at least an 8th grade reading level. So, watch your vocabulary. If you don’t
know the word, neither do they!
This project has three parts:
1. Research Notes (Due Date: __________________)
2. Informational Brochure(Due Date: __________________)
3. Presentation (Date: __________________)
Useful Websites:
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http://www.nlm.nih.gov/medlineplus
Medline Plus provides information about a wide range of medical issues. Try typing your
disorder name into the search bar on this site. You will usually get a summary of the disorder
and some links for more information.
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http://kidshealth.org/teen/diseases_conditions/genetic/genes_genetic_disorders.html
An article reviews basic genetics and inheritance. Includes links to descriptions of Hemophilia,
Marfan Syndrome, Albinism, Turner Syndrome, von Willebrand Disease, Cystic Fibrosis, and
Muscular Dystrophy.
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http://www.ygyh.org
Multimedia descriptions of many disorders. Including Fragile X, Marfan, Hemophilia, Cystic
Fibrosis, Muscular Dystrophy, PKU, Huntington Disease, Neurofibromatosis (NF), Sickle Cell,
Hemochromatosis, Tay-Sachs, Teta-thalassemia, Down Syndrome, Alzheimer Disease, Polycystic
Kidney Disease.
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https://www.genome.gov/10001204/specific-genetic-disorders/
Includes a list of selected genetic, orphan and rare diseases with links to more in-depth
information on the disorders.
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https://www.medicinenet.com/genetic_disease/article.htm
Gives overview of what a genetic disorder is. Includes links to many different genetic disorders
separated by the type of mutation that causes the disorder.
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https://rarediseases.info.nih.gov/diseases/browse-by-first-letter
Genetic disorders listed alphabetically.
Genetics Research Disorders List
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Down’s Syndrome
Phenylketonuria (PKU)
Fragile X Syndrome
Hemophelia
Tay-Sach’s
Sickle Cell Anemia
Cystic Fibrosis
Neurofibromatosis
Albinism
Osteogenesis imperfect
Spina Bifida
Gaucher disease
Huntington disease
Marfan Syndrome
Polycystic Kidney disease
Dwarfism
Lymphoma (Hodgkin’s and/or NonHodgkin’s)
Duchenne Muscular Dystrophy
Severe Combined
Immunodeficiency/adenosine
deaminase deficiency (SCID)- also
known as the “boy in the bubble
disease”
Manic Depression
Schizophrenia
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Alzheimer’s
Diabetes
Juvenile Arthritis
Adrenoleucodystrophy (ALD)
Colon Cancer
Ovarian Cancer
Uterine Cancer
Prostate Cancer
Breast Cancer
Malignant Melanoma (Skin Cancer)
Bone Cancer
Leukemia
Retinoblastoma
Other Genetic Topics/Issues
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Prenatal Testing
Human Genome
Gergor Mendel and Mendelism
Cloning Endangered Species
Genetically Altered Plants
DNA Fingerprinting
Cloning Animals
Oncogenes
Online Research for a Genetic Disorder
Directions: Complete the following information on your chosen genetic disorder. Answer in complete
sentences.
1. What is the name of the genetic disorder?
2. What system/part of the body/ does the disorder affect?
3. What gene and/or chromosome is mutated in this disorder?
4. What is the type of mutation that causes this disorder?
5. Is this mutation dominant or recessive?
6. What are the symptoms of this disorder?
7. What are the possible treatments for this disorder?
8. Does this disorder affect specific populations of people more so than other populations? What
are they?
9. What is the percentage or ratio of the population suffering from this disorder?
Websites Used for Research
Website 1
Name of Website:
Web Address:
Interesting Facts Not Included in Questions
Fact 1:
Fact 2:
Website 2
Name of Website:
Web Address:
Interesting Facts Not Included in Questions
Fact 1:
Fact 2:
Back of Brochure
(Websites, Interesting Facts, etc.)
Inside Flap (Behind Cover)
(Symptoms)
(Name of Disorder/Picture)
Front Cover
Inside Right
(Treatment)
Inside Center
(Genetic Cause)
Inside Left
(Description of Disorder)
Genetic Disorders Presentation Rubric
Look below for the components necessary for your visual presentation. Have this on the day of the
presentations and hand it to your teacher when it is your time to present.
Point Value
10
10
25
15
10
Component
Research questions completely answered on due date
Draft of brochure complete on due date
Brochure
 Name of disorder/disease
 Brief description of disorder/disease
 Type of mutation that causes disorder
 Dominant or recessive trait
 Possible treatments/preventative precautions
 Specific populations affected
 Percentage of people with disorder
 Two sources
 Two interesting facts
Brochure
 Well-organized
 Full-color and visually pleasing
 At least one image
Brochure
 Knowledgeable about researched disorder – can answer questions asked
 Presentation is well thought out
 Visual is well explained
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