Inheritable Disease Report

There quite a few genetically inheritable diseases that are caused by point mutations. 

For this assignment, you need to chose one genetically inheritable disease that is caused by a single-base pair change and write a report that includes the following information in full sentence, paragraph form.

Grammar and spelling is important, so please make sure to check your work and proofread!

 

Include the following information: (see rubric below for grading)

1.) The name of the disease.

2.)The gene responsible for this disease, where that mutation occurs within the genome (chromosome and allele location), and type of point mutation (or common options for the type, if multiple are possible). 

3.)The type of inheritance pattern for the disease (make sure to be specific using the terms autosomal, X-linked, dominant, and/or recessive).

*Expect to write one paragraph for numbers 1-3

4.) The protein molecule(s) that is/are affected by the mutation and how it/they is/are affected (1 good sized paragraph).

4.) The disease symptoms that occur in the affected individuals (1-2 good sized paragraphs).

5.)How the disease may be treated or managed (1-2 good sized paragraphs).

 

For this report, please make sure to cite your sources of information. You need at least two sources of information for your report. 

Include a full citation list at the end of your report and in-text citations anywhere you use information from a source in your report. Without those citations, it is considered plagiarism and will be an academic honesty violation. 

Why do we cite materials:

Citing Basics (Links to an external site.)

*Citation Guidelines for APA:

http://howardcc.libguides.com/apastyle-rh (Links to an external site.)

https://owl.purdue.edu/owl/research_and_citation/apa_style/apa_formatting_and_style_guide/general_format.html (Links to an external site.)

 

 

Please submit directly using this Canvas link. The file needs to be in a .doc, .docx, or .pdf format.

 

Resources Examples:

 (Links to an external site.)

• District of Columbia Department of Health. (2010). Understanding genetics: a district of Columbia guide for patients and health professionals. Washington (DC): Genetic Alliance.  Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK132154/ (Links to an external site.)
• Very technical source, but gives you helpful options to look for less detailed sources elsewhere: Chial, H. (2008). Rare genetic disorders: learning about genetic disease through gene mapping, SNPs, and microarray data. Nature education, 1(1), 192. Retrieved from https://www.nature.com/scitable/topicpage/rare-genetic-disorders-learning-about-genetic-disease-979/. (Links to an external site.)
• National Institute of Health (2020, February 11). Genetics Home Reference. Retreived from https://ghr.nlm.nih.gov/ (Links to an external site.)

Rubric

Some Rubric

Some Rubric

CriteriaRatingsPts

This criterion is linked to a Learning OutcomeName of disease

2 pts

Included the name

0 pts

No content provided.

2 pts

This criterion is linked to a Learning OutcomeGene involved and details

3 pts

Complete and accurate. Exceptional / Excellent: objectively worded, and supported with substantial and relevant information. The question is answered with a wealth of relevant details.

2 pts

Well-done / Above Average: appropriate, and well supported. Content is both adequate and appropriate, providing examples and illustrations to support all generalizations. However, contains some mistakes or is missing a full description.

1 pts

Substantial content is included, but it is inaccurate to the disease chosen. Major errors are made. Or very limited information included.

0 pts

No content provided.

3 pts

This criterion is linked to a Learning OutcomeInheritance Pattern

2 pts

Correct inheritance pattern identified

1 pts

Incorrect or partially correct inheritance pattern

0 pts

No content provided.

2 pts

This criterion is linked to a Learning OutcomeProtein affected and details

5 pts

Complete and accurate. Exceptional / Excellent: objectively worded, and supported with substantial and relevant information. The question is answered with a wealth of relevant details.

4 pts

Well-done / Above Average: appropriate, and well supported. Content is both adequate and appropriate, providing examples and illustrations to support all generalizations. However, contains some mistakes or is missing a full description.

2.5 pts

Substantial content is included, but it is inaccurate to the disease chosen. Or missing some key components in discussion of the protein how it is affected.

1 pts

Needs Improvement / Unsatisfactory: Some content is provided, but is not correct and is very limited in substance.

0 pts

No content provided.

5 pts

This criterion is linked to a Learning OutcomeDisease symptoms

5 pts

Complete and accurate. Exceptional / Excellent: objectively worded, and supported with substantial and relevant information. The question is answered with a wealth of relevant details.

4 pts

Well-done / Above Average: appropriate, and well supported. Content is both adequate and appropriate, providing examples and illustrations to support all generalizations. However, contains some mistakes or is missing a full description.

2.5 pts

Substantial content is included, but it is inaccurate to the disease chosen. Major errors are made.

1 pts

Needs Improvement / Unsatisfactory: Some content is provided, but is not correct and is very limited in substance.

0 pts

No content provided.

5 pts

This criterion is linked to a Learning OutcomeTreatment discussion

5 pts

Complete and accurate. Exceptional / Excellent: objectively worded, and supported with substantial and relevant information. The question is answered with a wealth of relevant details.

4 pts

Well-done / Above Average: appropriate, and well supported. Content is both adequate and appropriate, providing examples and illustrations to support all generalizations. However, contains some mistakes or is missing a full description.

2.5 pts

Substantial content is included, but it is inaccurate to the disease chosen. Major errors are made.

1 pts

Needs Improvement / Unsatisfactory: Some content is provided, but is not correct and is very limited in substance.

0 pts

No Marks

5 pts

This criterion is linked to a Learning OutcomeGrammar, Spelling, and Sentence Structure

3 pts

Well-written, with complete sentences, and proper grammar.

2 pts

Well-written but in need of proofreading.

0 pts

Poorly written, with sentence fragments, subject-verb agreement problems, improper scientific name formatting, and/or excess use of direct quotations rather than paraphrasing.

3 pts

This criterion is linked to a Learning OutcomeCitations and Paraphrasing

5 pts

Exceptional / Excellent: Sources used are relevant, substantial, and authoritative, demonstrating creativity and scholarly research. Information is introduced and incorporated smoothly and appropriately. Documentation is clear and free of errors. Student paraphrases well.

3 pts

Passing / Satisfactory: Sources are adequate, but may be too general. Information is occasionally weakly incorporated or is unconnected to the content of the essay. Documentation is generally close to proper APA formatting, but may contain some minor errors. Student attempts to paraphrase information for most of the paper, but mostly just rearranges words.

2 pts

Needs Improvement / Unsatisfactory: Sources are lacking or inappropriate. Information from sources is not adequately incorporated into the body of the essay. Documentation is not close to proper APA formatting. Student attempts to paraphrase and minor use of direct quotes.

0 pts

No full references and/or No in-text citations, which also results in receiving a 0 on the entire assignment as it is an academic honesty violation. OR Excessive use of direct quotes

5 pts

Total Points: 30

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