Genetic Disorder Project
Points Available: 150
Due Date: 11-30-15
*PowerPoint presentation per rubric
*Awareness Card required per rubric
*Research Paper required per rubric
Disorders
1.
Achondroplasia
(dwarfism)
13.
Lou Gehrig’s Disease
2.
Albinism
3.
Cystic Fibrosis
14.
Marfan Syndrome
4.
Down Syndrome
15.
Moebius Syndrome
(Trisomy 21)
16.
Progeria
(ALS)
5.
Familial Dysautonomia
17.
Proteus Syndrome
6.
Gardner Syndrome
18.
Retinoblastoma
7.
Gaucher’s Disease
19.
Rett’s Syndrome
8.
Hemophilia
20.
Tay Sachs Disease
9.
Huntington’s Disease
21.
Tourette Syndrome
10. Jacobsen Syndrome
22.
Turner’s Syndrome
11. Klippel-Feil Syndrome
23.
Xeroderma Pigmentosum
12. Leukodystrophy
24.
Not Listed…
1.
What is the name of your disorder (common and
scientific)?
2.
How did the genetic disorder get its name?
3.
What are the symptoms of your disorder?
4.
How common is the disorder (incidence in the
population)?
5.
Is it more common in males or females or is it equally
common?
6.
What is the prognosis or outcome of the disorder? What
is the life expectancy?
7.
Is it a gene disorder or a chromosomal disorder?
8.
What is the name/ number of the gene and
chromosomes affected?
9.
Are there different forms of the disorder? Or varying
degree in which the symptoms appear?
10. What are the treatments for this disorder?
11. What direction is the research heading? What does the
research hope to do in the future?
12. Is this disorder recessive, dominant, a spontaneous
mutation, or a chromosomal abnormality?
13. Is there one particular population that the disorder
affects over others?
14. What would it be like to live with this disorder? What are
the obligations of the caregiver of a person with this
disorder? (such as required care and financial
obligations)
15. Are there any famous people with this disorder? Who are
they? Are there any famous doctors or researchers who
have worked on this disorder?
Evaluating Web Resources
Find an interesting website using Google or another browser?
Not sure if you can use it for academic research? It is not
always easy to determine if information on the internet is
credible. However, the guidelines below will help you
understand clues about the reliability of web resources.
Authority
•
•
•
•
Who is the author of this page?
What are their credentials?
Are they affiliated with an institution?
Does the site display this information?
Objectivity
•
•
•
•
What is the purpose of this page?
Does the author state the goals for this site?
Does the content inform, educate, persuade, or rant?
If the author is affiliated with an institution (government,
university, business, etc.), does this affiliation bias the
information presented?
Accuracy
• Does the site have page sloppy layout, include misspellings
or typos?
• It's always a good idea to cross-reference information no
matter where you find it.
• Do graphics add or detract from the content? Is there
inflammatory content?
• Is the information complete or fragmented?
Currency
• When was this page created? Is there a revision/creation
date?
• Do the links work?
• Is the page maintained and up-to-date?
For more in-depth information on evaluating websites, see:
Evaluating Web Pages: Techniques to Apply & Questions to
Ask from UC Berkeley - Teaching Library Internet Workshops
• Genetic Science Learning Center A nationally and
internationally-recognized education program that
translates science and health for non-experts. In
addition to genetics, we address all areas of life science
and health as well as other scientific fields.
• National Human Genome Research Institute The National
Human Genome Research Institute began as the
National Center for Human Genome Research (NCHGR),
which was established in 1989 to carry out the role of
the National Institutes of Health (NIH) in the
International Human Genome Project (HGP). The HGP
was developed in collaboration with the United States
Department of Energy and begun in 1990 to map the
human genome.
• National Institute of Child Health and Human Development
The NICHD's wide-ranging mission to advance
knowledge about health through the lifespan means
that the Institute studies a broad range of health topics.
This section provides details about those topics and
includes the following information for each topic.
• National Institute of Health The National Institutes of
Health (NIH), a part of the U.S. Department of Health
and Human Services External Web Site Policy , is the
nation’s medical research agency—making important
discoveries that improve health and save lives.
• National Science Foundation A United States government
agency that supports fundamental research and
education in all the non-medical fields of science and
engineering.
• PubMed Books (NIH) Provides free access to books and
documents in life science and healthcare. A vital node in
the data-rich resource network at NCBI, Bookshelf
enables users to easily browse, retrieve, and read
content, and spurs discovery of related information.
• World Health Organization WHO is the directing and
coordinating authority for health within the United
Nations system. It is responsible for providing
leadership on global health matters, shaping the health
research agenda, setting norms and standards,
articulating evidence-based policy options, providing
technical support to countries and monitoring and
assessing health trends.
Henry Gray's Anatomy and Physiology The Bartleby.com
edition of Gray’s Anatomy of the Human Body features 1,247
vibrant engravings—many in color—from the classic 1918
publication, as well as a subject index with 13,000 entries
ranging from the Antrum of Highmore to the Zonule of Zinn.
Images are integral to research and greatly enhance
presentations and learning on visual topics. Be sure you
understand the concept of "fair use" before you use or
repurpose images into your work.
Fair use is generally defined as the allowance to use
copyrighted material in a fair manner without obtaining
permission from the copyright holder. For educational
purposes (research papers, classroom presentations, etc.)
always cite the original work! This may take the form of in–text
citations, a references page, an addendum to presentation, etc.
If you are planning to use your work beyond the classroom
(educational), on the web, for commercial (for-profit) purposes,
etc., you should obtain permission from the copyright holder
for all copyrighted works used in your work (including
derivative uses); neglecting to obtain permission is a violation
of US copyright law.
There are four factors that impact the justification for Fair Use
(Section 107 of US Copyright Law).
1. The purpose and character of the use, including whether
such use is of commercial nature or is for nonprofit
educational purposes. This refers to:
Whether the work is for educational use, whether there is
profit from the use of the work, whether the use is credited
(cited), level of access to the work, whether the use is for
criticism, commentary, or news reporting, how derivative the
use of the work is.
2. The nature of the copyrighted work. This refers to:
Whether the work is published, how creative the original work
is, whether the work is fiction or non-fiction.
3. Amount and substantiality of the portion used in relation to
the copyrighted work as a whole. This refers to:
How much of the original work is used, how important the
portion used is to the original work.
4. The effect of the use upon the potential market for or value
of the copyrighted work. This refers to:
Whether the use will impede or prevent the copyright holder
from profiting from their work.
A good rule of thumb is to check a website for specific
guidelines on permissions. Websites with image content that is
copyrighted will usually state the parameters that they
consider fair use for their content. Read this information to
better understand how to cite the content you are using.
Again, always cite your sources.
• Discovery Education Use the username and password
located in the Research Topics tab of this guide. All
content is available for download.
• Library of Congress : Prints and Photographs Online
Catalog Unique in their scope and richness, the picture
collections number more than 14 million images. These
include photographs, historical prints, posters,
cartoons, documentary drawings, fine prints, and
architectural and engineering designs. The collections
are particularly strong in materials documenting the
history of the United States and the lives, interests, and
achievements of the American people.
• The Smithsonian Institution Search over 8.45 million
catalog records of museum objects and library &
archives materials. More than 936,000 of these records
contain online images, video and sound files, electronic
journals and other online resources.
• New York Public Library : Gallery NYPL Digital Gallery
provides free and open access to over 800,000 images
digitized from the The New York Public Library's vast
collections.
World Book Online Image Search World Book Online offers an
image search for its entire reference database.
Websites:
http://mdlibguides.materdei.org/content.php?pid=567109&si
d=4675362