Your challenge is to incorporate your knowledge about cells, cell division, genetics, and DNA in order to research and report on a specific genetic disorder. No more than three people will be allowed to research a single genetic disorder.
You may choose from the following forms of media to present your research: written report, poster,
PowerPoint, Wiki page (linked to your student page on www.mervadc.wikispaces.com
)
The project is due: Monday, May 24 th
Your report will include the following sections:
A.
Introduction - History/Overview of disorder: Name the disorder and describe its history. When and who discovered the disorder? Who has researched the disorder? What types of people are most affected by the disorder?
B.
Diagnosis: Explain the way in which the disorder is diagnosed by medical professionals. This should include a description of the tests and procedures carried out to determine if a person has the disorder.
C.
Transmission: Identify the way in which a person receives the disorder. Is it inherited from a parent? If so, what type of inheritance is it (sex-linked, complete dominance, co-dominance, incomplete dominance)? Is it caused by a mutation after conception? If the disorder is inherited, then you must include a Punnett square demonstrating the probability of transmission. Consider incorporating a family pedigree as one of your figures for the paper.
D.
Signs and symptoms: List and describe each sign and symptom for the disorder. A sign is something that can be measured or observed by another person (i.e. body temperature, heart rate, blood pressure). A symptom, on the other hand, is something that is perceived by the affected individual (i.e. nausea, dizziness).
E.
Treatment: Many genetic disorders cannot be cured. Often, signs and symptoms are treated using medicine, therapy, or other medical procedures. Describe the types of treatment available for the disorder. Evaluate the advantages and disadvantages of each treatment. If more than three types of treatment exist, choose only three treatments to discuss.
F.
Reference List: Include a list of sources used in the research paper. You must include at least three sources. At least one non-website source must be used (i.e. book, magazine, newspaper, journal article). APA format should be used. Remember, only include references actually cited within the text of your report. Further information and resources for APA format can be found below.
G.
Figures: Include at least three figures in your project (pictures, tables, graphs, or diagrams) that are relevant and help explain the disorder you are researching. This may include pedigrees, Punnett squares, pictures of individuals affected by the disorder, etc.
If you have questions about the report over winter break, please email me at my home email address, which is katherine.merva@gmail.com
. This will ensure that the district spam quarantine will not block your email. You may also find this document online at my website www.d300.org/~katiemerva under the
“Documents” menu on the right side of the screen.

APA formatting and style guide: Visit the following website from Purdue Online Writing Lab for additional help with citing and listing references. http://owl.english.purdue.edu/owl/resource/560/01/
For every source used in project, you must list that reference in your reference list. References must be formatted in
APA style. To create the Reference List: Go to “Reference List: Basic Rules” http://owl.english.purdue.edu/owl/resource/560/05/
There are additional links for Reference List information at the bottom of the page. For instance, how to create references for books, websites, articles in periodicals, etc.
LIST OF GENETIC DISORDERS: Choose a few disorders that you might be interested in researching. No more than three people will be allowed to research a single genetic disorder. If you would like to research a disorder not listed below, please see Ms. Merva before beginning work.
 Achondroplasia (Dwarfism)
 Adrenal hyperplasia
 Autism/ Asperger syndrome
 Breast cancer
 Colon cancer


Cystic Fibrosis
 Down Syndrome (Trisomy 21)
 Duchenne Muscular Dystrophy
 Familial Dysautonomia
 Familial hypercholesterolemia
Fragile X Syndrome
 Gaucher Disease


Hemophilia


Holoprosencephaly
 Huntington’s Disease
 Jacobsen Syndrome
 Klinefelter Syndrome
Klippel-Feil Syndrome
Leukodystrophy


Lou Gehrig’s Disease (ALS)


Marfan Syndrome
 Moebius Syndrome
 Parkinson’s disease
 Phenylketonuria (PKU)
Polycystic Kidney Disease
Progeria (like the movie “Jack” with Robin Wiliams, only not exactly)


Prostate cancer
 Proteus Syndrome
 Retinoblastoma
 Rett’s Syndrome
 Sickle cell disease (sickle cell anemia)
 Spinocerebellar Ataxia
Tay-Sachs Disease
 Tourette Syndrome
 Turner Syndrome

INTERNET RESOURCES: Instead of going to Google first, start by visiting the D-C Media Center website http://library.d300.org/common/welcome.jsp?site=104 and click on “EBSCOhost.” Your non-website resource may be found this way because EBSCOhost contains journal, magazine, and newspaper articles.
Other helpful resources online include:
Mayo Clinic medical information and tools for healthy living http://www.mayoclinic.com/
More than 3,300 physicians, scientists and researchers from Mayo Clinic share their expertise to empower you to manage your health.
National Human Genome Research Institute http://www.genome.gov/27527652
Very helpful site from the NIH which describes genetic disorders, genetic testing, and genetic counseling.
Genetic Disorder Library http://learn.genetics.utah.edu/units/disorders/whataregd
To learn more about different genetic disorders, browse through the Genetic Disorder Library.
What can our chromosomes tell us? http://learn.genetics.utah.edu/content/begin/traits/karyotype/
A site that talks about karyotyping of genotypes. http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/ (predicting genetic disorders with karyotypes)
Genetic & Rare Conditions Site http://www.kumc.edu/gec/support/
Links to different types of disorders in alphabetical order.
Genetics Education Center http://www.kumc.edu/gec/ .
Seeks to help educate people about genetics.
Learning about the Human Genome Project and Genetics through the World Wide Web http://www.kumc.edu/gec/hgpwww.html
Looks at the ethical issues of genetic research.
Medline Plus http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
Overviews, diagnoses, symptoms, etc. of genetic disorders.
Karyotype Test http://www.cigna.com/healthinfo/hw6392.html
Why and how karyotypes are done.
The National Human Genome Research Institute http://www.nhgri.nih.gov/ .
Explains the human genome project.
A Gene Map of the Human Genome http://www.ncbi.nlm.nih.gov/science96/
You can see the mapping of several different chromosomes found within the body.

Name: _________________________________________ Disorder: _____________________________________
Rubric for Evaluation of Genetic Disorder Project
Criteria 0 2 4 Weight
Total
Score
History/
Overview
Diagnosis
Treatment
History and/or types of people affected are missing
The process and/or the tests and procedures are missing
History of disorder is vague; lists but does not describe types of people affected by disorder
Discusses the history of the disorder including when and who discovered it; describes the types of people most affected by disorder
The process of diagnosis is explained; describes the tests and procedures used for diagnosis
Cause/
Transmission
The cause/source of transmission is incorrect, unclear, and not explained;
Punnett square is missing if disorder is inherited or present if the disorder is not inherited
The cause of disorder or source of transmission is identified but not explained or not explained in detail;
Punnett square incorrectly depicts transmission of disorder, if inherited.
Signs &
Symptoms
Not present
The cause of disorder or the source of transmission is identified and explained in detail; a Punnett square is present if the disorder is inherited
Signs and symptoms are listed All signs and symptoms but not described; some signs and symptoms are missing. for the disorder are listed
and described.
Types of treatment are missing or just listed;
Advantages and disadvantages of each treatment are missing
The process of diagnosis is vague; lists but doesn’t describe the tests and procedures
Types of treatment are briefly described; Advantages and disadvantages of each treatment are listed and not described/evaluated in depth
Types of treatment are described in detail;
Advantages AND disadvantages of each treatment are evaluated.
Figures
Reference
List
No figures are included
Not present
One or two figures are included; figures are not relevant to disorder
Fewer than 3 sources used; no non-website source; APA format not followed
Minimum of 3 figures are included; figures are relevant to disorder
At least 3 sources; at least
one non-website source;
APA format used x2 x2 x3 x2 x3 x2 x1
TOTAL /60