Genetic
Diseases

Each year, thousands of
babies are born in the United States with genetic diseases and birth
defects. Many of these genetic
disorders have an extreme effect on a person’s quality of life. Sometimes these genetic disorders pop up
without any warning at all!
A local hospital has asked for our help to educate
the public, especially for couples that will soon be having babies of their
own. Our job is to create an
informative, yet eye-appealing brochure about a genetic disease that will be
distributed in hospital waiting rooms across southern New Jersey. Your brochure will help hundreds of families
understand why these illnesses exist and all the ways they can be prevented,
and/or treated.
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– Introduction – Process – Resources – Evaluation - Conclusion
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Once a genetic disorder has been assigned to
you, you will begin your research so that you can become an expert on the
subject. Think about the following
questions as they pertain to your disease.
·
What symptoms would a doctor or patient see
if someone has this disease?
·
How common is it?
·
Does it occur more often in girls or
boys? Is it more common in certain
ethnic groups or geographical areas?
·
Is this disease dominant or recessive? Is it a point mutation, or does it affect a
group of alleles? Is it a chromosomal
defect such as an extra chromosome, or an absence of a chromosome? If so, which pair of chromosomes is
affected?
·
Are there any treatments for the
disease? How do doctors and patients
manage the disease? Are there any
gene-therapy advances in the works?
What is the outlook for the future for patients with the disease?
1.
Gather
information about your disease and complete the Genetic Disease Data Sheet
you get from your teacher. Be sure to
write down the information about your sources (author, title, date the website
was last updated, etc.) to include on your works cited page. 
2.
Create
a tri-fold brochure that contains the following information:
Panel A: Description
Panel B: Prognosis, and
Interesting Facts
Panel C: Care/Treatment
Panel D: Symptoms
Panel E: Works Cited, name, class period,
Science/Cohen
Panel F: (Title Page) Name of disease, picture
Remember that brochures are meant to be informative,
yet eye appealing. You shouldn’t
include long paragraphs of information as you would in an essay. Along with shorter paragraphs, incorporate
bulleted statements when you can. Once
you have all of the required information, double-click this icon to open the
brochure template, to create your brochure:
For help in citing your sources on a Works Cited
page, click here: 
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– Introduction – Process – Resources – Evaluation - Conclusion
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In
addition to books and encyclopedias found in the media center, you should use
the following websites to gather information about your genetic disorder. Be sure to write down the source information
to include in your Works Cited page.
Kids
Health – http://www.kidshealth.com/teen
Healthscout - http://www.healthscout.com
Webmd.com
- http://www.webmd.com
Mdchoice- http://www.mdchoice.com/index.asp
Medicinenet- http://www.medicinenet.com/script/main/hp.asp
Medline
plus - http://www.nlm.nih.gov/medlineplus/encyclopedia.html
General: Chromosome Maps:
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.chapter.272
Genetic
Disease Information
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
Genetic
Counseling
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/gencounseling.shtml
AMA
Genetics and Molecular Medicine
http://www.ama-assn.org/ama/pub/category/1799.html
Genetics
in Medicine
http://www.geneticsinmedicine.org
Ask
NOAH about Genetic Disorders
http://www.noah-health.org/en/search/health.html
Achondroplasia (dwarfism)
http://www.geneclinics.org/profiles/achondroplasia/details.html
http://ghr.nlm.nih.gov/condition=achondroplasia
http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm
Albinism
http://www.kidshealth.org/kid/health_problems/birth_defect/albinism.html
http://albinism.med.umn.edu/facts.htm
Batten Disease
http://www.ninds.nih.gov/disorders/batten/batten.htm
http://www.nataliefund.org/batten.html
Canavan Disease
http://www.ninds.nih.gov/disorders/canavan/canavan.htm
http://www.canavanfoundation.org/canavan.php
http://www.geneclinics.org/profiles/canavan/
Colorblindness
http://www.toledo-bend.com/colorblind/aboutCB.html
http://www.kidshealth.org/kid/talk/qa/color_blind.html
http://www.nlm.nih.gov/medlineplus/ency/article/001002.htm
Cri du Chat
http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm
http://www.criduchat.asn.au/criduchat/what.htm
http://learn.genetics.utah.edu/units/disorders/karyotype/criduchat.cfm
Cystic Fibrosis
http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html
http://www.ygyh.org/cf/whatisit.htm
Downs Syndrome (Trisomy 21)
http://www.kidshealth.org/parent/medical/genetic/down_syndrome.html
http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm
Edward’s Syndrome (Trisomy 18)
http://ghr.nlm.nih.gov/condition=trisomy18
http://www.nlm.nih.gov/medlineplus/ency/article/001661.htm
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trisomy%2018%20Syndrome
Fragile X Syndrome
http://www.fragilex.org/html/home.shtml
http://www.fragilex.org/html/what.htm
http://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html
http://www.autism.org/fragilex.html
Hemochromatosis
http://www.nlm.nih.gov/medlineplus/hemochromatosis.html
http://www.hemochromatosis.org/
http://www.cdc.gov/ncbddd/hemochromatosis/
http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=180&contentid=45&rptname=bleeding
http://www.nlm.nih.gov/medlineplus/ency/article/000538.htm
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.95
Huntington’s Disease
http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html
http://www.hdsa.org/site/PageServer
http://www.ninds.nih.gov/disorders/huntington/huntington.htm
Marfan Syndrome
http://www.marfan.org/nmf/index.jsp
http://www.americanheart.org/presenter.jhtml?identifier=4672
http://www.dnafiles.org/interact/marfan/index.html
http://www.ygyh.org/marfan/whatisit.htm
Muscular Dystrophy (Duchenne)
http://www.ygyh.org/dmd/whatisit.htm
http://www.nlm.nih.gov/medlineplus/ency/article/001190.htm
http://www.kidshealth.org/teen/diseases_conditions/bones/muscular_dystrophy.html
http://www.ninds.nih.gov/disorders/md/md.htm
http://www.cdc.gov/ncbddd/duchenne/index.htm
Phenylketonuria
http://www.nlm.nih.gov/medlineplus/phenylketonuria.html
http://www.medhelp.org/lib/pku.htm
http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
Prader-Willi Syndrome
http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html
http://www.med.umich.edu/1libr/yourchild/praders.htm
Progeria (premature aging)
http://www.nlm.nih.gov/medlineplus/ency/article/001657.htm
http://www.progeriaresearch.org/about_progeria.html
http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome
Sickle Cell Anemia
http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html
http://www.sicklecelldisease.org/
http://www.kidshealth.org/teen/diseases_conditions/blood/sickle_cell_anemia.html
http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324
Spina bifida
http://www.sbaa.org/site/c.gpILKXOEJqG/b.2016945/k.2321/Spina_Bifida_Association_Web_site.htm
http://www.kidshealth.org/kid/health_problems/birth_defect/spina_bifida.html
http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm
Spinal Muscular Atrophy
http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy
Tay-Sachs Disease
http://www.nlm.nih.gov/medlineplus/taysachsdisease.html
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.238
Turner Syndrome
http://www.turner-syndrome.com/
http://www.turner-syndrome-us.org/resource/faq.html
http://ghr.nlm.nih.gov/condition=turnersyndrome
Waardenburg Syndrome
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.187
http://www.tjclark.com/d_waardenburg_syndrome.htm
http://ghr.nlm.nih.gov/condition=waardenburgsyndrome
Werner Syndrome
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.188
http://ghr.nlm.nih.gov/condition=wernersyndrome
Williams Syndrome
http://www.williams-syndrome.org/forparents/whatiswilliams.htmlhttp://www.williams-syndrome.org/forparents/whatiswilliams.html
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.189http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.189
http://learn.genetics.utah.edu/units/disorders/karyotype/williams.cfm
Xeroderma Pigmentosum
http://dermnetnz.org/systemic/xeroderma-pigmentosum.html
http://www.geneclinics.org/query?dz=xp
Top – Introduction – Process – Resources – Evaluation - Conclusion
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The following criteria will be used to evaluate your
work.
|
|
1 point Beginning |
2 points Developing |
3 points Accomplished |
4 points Excellent |
|
Data Sheet |
Information provided has
major gaps in knowledge, audience is not likely to leave with useful
information |
Information has some major
gaps in knowledge, or is presented in such a way that the audience has
trouble understanding |
Data sheet provides
information on the topic, some elements are missing |
Data sheet provides a
wealth of information on the topic, all questions are answered in a way that
the audience can understand |
|
Sources/Works Cited |
No source information is
documented. |
Source information contains
major gaps, format is incorrect |
Source information is
included, some errors in format exist |
Careful and accurate
records are kept to document the source information and is written in proper
format |
|
Use of Class Time |
Did not use class time to
focus on the project OR often distracted others |
Used some of the time well
during each class period. There was
some focus on getting the project done but occasionally distracted others. |
Used time well during each
class period. Usually focused on
getting the project done and never distracted others. |
Used time well during each
class period. Focused on getting the
project done. Never distracted
others. |
|
Brochure - Writing –
Mechanics |
There are more than 4 grammar,
spelling, capitalization, and/or punctuation errors in the brochure. |
There are 3 or 4 grammar,
spelling, capitalization, and/or punctuation errors in the brochure. |
There are 1 or 2 grammar,
spelling, capitalization, and/or punctuation errors in the brochure. |
Grammar, spelling,
capitalization and punctuation are correct throughout the brochure. |
|
Brochure - Writing -
Organization |
Less than half of the
sections of the brochure have a clear beginning, middle, and end. Information does not follow a logical
sequence, and is difficult to understand |
Most sections of the
brochure have a clear beginning, middle, and end. Information is presented somewhat haphazardly |
Almost all sections in the
brochure have a clear beginning, middle, and end; information flows somewhat
easily and is fairly easy to understand |
Each section in the
brochure has a clear beginning, middle, and end; information flows logically
and easily and is easy to understand |
|
Brochure - Attractiveness |
The brochure’s formatting
is confusing to the readers; graphics do not go with the accompanying text or
appear to be randomly chosen. |
The brochure has
well-organized information, graphics go well with the text, but there are too
few and the brochure seems “text heavy”. |
The brochure has attractive
formatting, graphics go well with text, but the graphics distract from the
text. |
The brochure has
exceptionally attractive formatting, graphics go well with text, and there is
a good mix of graphics and text. |
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– Introduction – Process – Resources – Evaluation - Conclusion
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Surely, you have
realized that it is truly amazing that the vast majority of us are free from
major genetic defects. These genetic
disorders affect thousands of families each year. You have done a great job in keeping the public informed about
many of these disorders. Has anything
you read about in class caused you to think about your family, or your future
family?
Top
– Introduction – Process – Resources – Evaluation - Conclusion
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