Genetic Disease Research Project
You will be responsible for choosing a genetic disease to research. Currently, over 4,000
genetic diseases are known to afflict humans. You can find a good list at:
[Link] Use the list to get the basic information about the disease
and then begin independent research to build your understanding. Most genetic diseases are
rare and many cause serious health problems that oftentimes lead to death. One of the biggest
incentives to study genetics is the hope of curing such serious diseases. In order to familiarize
yourself with the problems, causes, treatments, and research about genetic diseases you will
choose one disease to research. Using your research you will present your findings in a
medium of your choice. Keep in mind you must meet the requirements of the assignment no
matter which format you choose. The requirements for the assignment are described below.
Format Options
Poster
Powerpoint
Prezi
Movie
Research Paper
Poem
You must include all of the following sections in your project.
Cause of the genetic disorder
Have researchers identified a bad or faulty gene? What is the name of that gene?
What’s the difference between the functional and nonfunctional genes?
Have researchers identified a nonfunctional protein? Why is the protein nonfunctional?
How does that protein affect the body or a human’s health?
Symptoms
What are the physical symptoms of the disease? What traits does the disease affect?
Are there early warning signs of the disease? How do doctors diagnose or identify the
genetic disorder?
Treatment
Is the disorder treatable? If so how do doctors cure the disease or ease the symptoms?
How effective are the treatments? What are the risks and/or side effects of
treatments? What are other benefits and costs of treatments? Are they expensive,
hard to find, controversial?
Prevalence
How common is the disorder? What groups of people does it affect? Are males more
commonly afflicted than females? Do certain races experience the disease at a greater
rate? Is the disease more common in certain countries or geographic regions?
Additionally, you must choose two of the following sections to include.
Inheritance
How does an individual acquire the disease? Describe the mechanism by which a
person becomes afflicted? Is the disease autosomal dominant or recessive, X-linked, Y-
Linked, codominant, pleiotropic, incompletely dominant or another form of inheritance?
History
When was the disease discovered? Who discovered the disease? When was the gene
and/or protein responsible for the disease identified? What person or group made
discoveries such as treatments, proteins, or genes that relate to the disease?
Current Research
Who is conduction research about the disease? Are there emerging or new treatments?
Describe recent breakthroughs or the future direction of research.
Diagnosis
What tests do doctors run to determine if an individual is afflicted by the disease? At
what age do doctors look for the disease? When do the symptoms of the disease show
up during a person’s life?
Make Your Own Section
Create a section that relates to the disease. Perhaps you could describe the role of a
leading research group. Look at a medical blog and correspond with individuals involved
with the disease. Maybe you could create a collage using pictures of symptoms. If you
are unsure about an idea see your instructor for approval.
