You have been challenged to incorporate your knowledge about cells, cell division, genetics, and DNA to research and present on a specific genetic disorder. You have already completed your basic study about the ideas of genetics and mutations. Now with the information that you have you are being asked to research a specific genetic disorder.
 IN YOUR OWN WORDS, using complete sentences, paragraph style, summarize the information in the spaces provided.
 DON’T just COPY and PASTE information from the INTERNET!
Analyse Information from at least 2-3 sites and summarise them in your own words.
 IMAGES – at least 3 good and appropriate images need to be included in your report
 You must have the following
in your project.
1.
Introduction
 What is the name of the disorder that you are researching?
 Who discovered this disorder, when and where, etc?
 What is the incidence of this disorder? (eg. One in 10,000 Australia, more in males – males:
 females = 7:3, is it more often in some ethnic groups)
Is this disorder more likely to occur in certain populations?
2.
Cause of the Disorder
 What category of genetic disorders does this disorder fit into (single gene defect, multifactorial defect, mitochondrial disorder or chromosome abnormalities)

Is it a recessive or dominant trait?

Is it sex-linked

Which chromosome is the gene for the disorder located on?

Are there environmental factors or influences?
3.
Genetic Diagram(s) - Make a drawing of how the disorder is inherited (such as a Genetic diagram,
Punnett square or pedigree). You need other information if Punnett square is not applicable to your selected disorder.
4.
Signs and symptoms of the disorder.
 How do these problems affect the patient’s daily life.

List the parts of the body that are affected.

How does the disorder progress? Over time, what happens to the person who has the disorder?

Is the disorder dangerous.
5.
Treatment of this disorder
 Don’t just mention – no cure!
 Since the patient has a lot of associated problems – what sort of medication, physiotherapy etc may help to alleviate his or her problems.
 What is the status of research on the disorder? This information could also include therapy or ways the individual with the disorder adapts.
6.
Prevention of this disorder
 A description of any protocols that may be used to determine carriers and/or individuals who might have the disorder and the probabilities of their passing the disorder to their offspring.
 Genetic Counselling, Genetic Tests
7.
References
 3 References need to be included – Be specific
Don’t just simply site: Google image, Wikipedia etc.
 When you site the internet information, you need to write down the Title and the publisher other than the actual site:
Eg. Genetic Disorder Information from genomics.energy.gov http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
 If it is a book or journal, you need to include the author, year of publication, Title of the book or journal, edition, publisher, page numbers.

Eg. Lofts, Graeme and evergreen, Merrin (2000) “Science Quest 4” 2 nd Edition, Jacaranda p.176-179
Selected Genetic Disorder = _______________________________ Name: ________________________________
No mark if the criteria is not addressed!
Use of Class time
Brilliant Work
[ 4 marks ]
Effective uses of class time
Good Work
[ 3 marks ]
Good uses of class time
Satisfactory
[ 2 marks ]
Uses of class time in an ordinary way
1 – 2 days late
Need to improve
[ 1 mark ]
Not using class time well
3 - 5 days late Submitting work
On time (with draft)
Introduction Address to all the required information
Causes Address to all the required information
On time (no draft)
Address to most of the required information
Address to most of the required information
Good Hand drawn diagrams
Genetic diagrams
Images
Signs and
Symptoms
Need to be hand drawn and clear with keys and description
3 appropriate and high quality images
Detailed description including how they affect daily life
3 images but not clear or in good quality
Description of symptoms clearly but did not mention the impact on daily life
Good description of the treatment in different areas
Treatment
Prevention
Detailed description of the treatment in different areas other than medication
Excellent uses of internet for the latest information
Including genetic counseling and tests
Good information on genetic counseling and tests
References 3 references with titles 3 references without titles
Presentation Excellent uses of layout and space including border and other feature of the word processing in
Word or PowerPoint
Good presentation with proper layout and a few features of the software
Marks
Address to some of the required information
Address to some of the required information
Hand drawn diagrams missing parts
2 images mention some signs and symptoms
Limited description of treatment
Some description on prevention
2 references without titles
Reasonable presentation
Only very brief introduction
Only very brief description
Diagrams directly copied from the internet
1 image
Very brief mention in signs and symptoms
Very brief description
Very brief description
Some references but not specific
Lack of subheadings and layout

≤45 46-55 56-65 66-75 76-85 86-95 96-100
NS MR S G VG Ex OS