Disorder or condtion that seems to be ruuning in the family

REQUIRED TERM PROJECT: CONTENT

(1) Identify a disorder or other condition that seems to be “running in your family”. This may involve formal or informal conversation with relatives you haven’t seen in a while. You may also opt to research a condition in a family of someone you know well enough to obtain very personal information. Please be tactful when you are talking with people – remember that you will be asking them some very personal questions.

(2) IMPORTANT: Do not be concerned about whether or not the trait you find is genetic. Look for a trait that offers the most information if you have family members with a number of different conditions. Determining whether or not it is inherited will be one of the conclusions of your analysis. A finding of the trait being non-genetic is just as valid as verifying a genetic basis.

(3) Construct a family tree according to the correct procedure outlined in class and in the supplementary reading. Obtain as much information as you can as to which family member(s) have the condition. It is just as important to identify who does NOT have the condition.

(4) Outline signs, symptoms, etiology, statistical rate of occurrence, and treatments for the condition. Be sure to keep this part concise, even though there might be “tons” of information on the condition.

(5) Part of your analysis will be to answer these questions:
1. Is the trait controlled by a single gene, more than one gene, or is it not genetic at all?
2. Is there a heavy environmental (geographic or physiological) influence?
3. Are there variations in expression of the symptoms?
4. If genetic, can someone have the gene or genes without having symptoms?
5. If non-genetic, can someone have the symptoms without having defective genes?
6. At what age does it onset?
The trait you study will – guaranteed!!! – have its own unique, aIDitional set of questions to be answered.

(6) Following all the principles of accurate, legal genetic counseling, write up a genetic counseling analysis for this family to include the following MINIMUM:
a. Choose one person in this family (it could certainly be yourself) and determine what the “oIDs” are of passing this trait on to the next generation.
b. Support these conclusions with very strong evidence.
(7) DEADLINES:
REQUIRED DEADLINE NUMBER ONE:

Students must have determined the trait to be studied ON OR BEFORE THE END OF CLASS ON THURSDAY, FEBRUARY 12). All that needs to be done at this point is to tell professor the condition you will be analyzing. This must be done on a one-to-one basis, either in class or by e-mail.
There will be a 10% deduction from your paper if this deadline is not met.
SPECIAL NOTE: Valid research on one topic may lead you down another path later on. Please let your professor know and the topic can certainly be changed without penalty.

REQUIRED DEADLINE NUMBER TWO:

Students must hand in (not by e-mail) a typed “progress report” (minimum of two paragraphs) AT THE START OF CLASS ON – NOT BEFORE – MONDAY, MARCH 23. This is to include the work that has been done, the work that has to be done, and a minimum of four up-to-date references.
There will be a 20% deduction from your paper if this deadline is not met, or if the report is incomplete.

FINAL DEADLINE:

Final term projects must be handed in on or before the beginning of the class on FRIDAY, APRIL 24. NO EXCEPTIONS. Projects not turned in by then receive a zero.

(8) SUBMISSION FORMAT: READ CAREFULLY:

a. Submit a hard copy of the paper including integrated tables, pictures, references, footnotes, endnotes, etc. Fancy binders are not necessary – a well-placed staple (NOT a paper clip) will be fine. The family tree must not be stapled in with the paper. You should simply tuck it into the paper itself so that it can be easily removed.

b. You must also submit an electronic copy of the paper (graphics and family tree need not be included) on any of the following media in Windows format: USB, CD, or DVD. Papers will not be accepted without this aIDitional copy. These media will be returned to you when the paper is returned on the completion of your scheduled final exam.

(9) Grading of the term project:
1. Description of trait; symptoms, etiology, etc. – 10% of the grade.
2. Presentation of family tree – 10% of the grade.
3. Determination of mode of inheritance – 10% of the grade.
4. Estimation of recurrence (or occurrence) risk – 10% of the grade.
5. Analysis of data to form conclusions – 25% of the grade.
6. Genetic counseling analysis – 20% of the grade.
7. Quality of references cited and citation protocol – 5%
8. Spelling, syntax, grammar, sentence structure, readability – 5% of the grade.
9. Submission format (see “final deadline”) — 5%

(10) A word on references:

(1) Generally, if the reference is more than five years old, it is probably out of date. Out of date references lead to erroneous conclusions.
(2) References from the internet will be accepted only under the following conditions:
a. It must be from a refereed or juried source, such as an on-line version of a journal, or well-established public media.
b. It must have the name of an author / editor, and a publication date.
c. Internet references must be properly cited:

HOW TO CITE REFERENCES FROM THE INTERNET

People who work in diamond mines generally have to look through towering piles of useless rocks to find the few gems which are the objects of their search. When you do a literature search on the internet, you will encounter the same circumstances. It will be up to you to excavate the gems from the rocks. Your internet “gems” must include the following to be considered acceptable references:

1. The name of the article or reference.
2. The name of the author or editor if it is given. If there is no reference to an author or editor, the reference is NOT ACCEPTABLE.
3. The date of publication of the article or reference. References from “OMIM” (Online Mendelian Inheritance in Man) must include the catalogue number.
4. The URL where the article can be found.

 

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