Human Genetic Disorders Project

In this project, you will adopt the role of genetic counselor. Your job involves meeting with both potential parents interested in assessing
the risks of having a child (e.g., are they carriers for a disease?) as well as those who are already pregnant and wish to consult about
prenatal screening for their developing baby (e.g., does it have any genetic or chromosomal abnormalities?). ​Each of you will be tasked
with providing a consultation to a family or individual, helping them to better understand a particular genetic disease.​ Your presentation
to the class about your genetic disorder should mimic what you would tell your client in this situation.

You of course want your clients to trust that you know what you are talking about, so outside ​research​ will be necessary to prepare for this
meeting. Please be sure to refer to your book and several other sources when completing your research. Wikipedia is a great jumping off
point to familiarize yourself with the disorder, but it should not be your only source. Information found on Wikipedia should be
corroborated with another source. Make use of the “references” section at the end of the Wikipedia article to help you with this. An MLA
Works Cited of the sources your referenced is part of your grade.

Links to helpful genetic disorders websites: MLA webpage citation help

- ​http://www.genome.gov/10001204 - http://honolulu.hawaii.edu/legacylib/mlahcc.html
-​http://www.ornl.gov/sci/techresources/Human_Genome/medicin - http://library.duke.edu/research/citing/workscited/webpag
e/assist.shtml e.html
- ​http://learn.genetics.utah.edu/units/disorders/whataregd/ - http://www.lib.wsc.ma.edu/mlastyle.htm
-​http://dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_D
isorders/
- ​http://www.noah-health.org/en/genetic/
- ​http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
- ​https://ghr.nlm.nih.gov/condition
- ​http://www.ygyh.org/
- ​http://www.specialchild.com/disorder.html

You should come to your consultation with a ​visual aide​ to help your clients understand the disease better. In many cases, it will be helpful
to include a picture of a person with the disease. Your visual aide could be a pamphlet, flyer/handout, infographic, or Google Slides. If you
choose to use a slideshow, it should have​ no more than 5 words per slide​. Make sure to share the slides with Ms. Stoughton by the start of
class on the day of presentations. If you are distributing a physical handout, make sure to print enough copies for the entire class (that’s 15
copies).
You may use notes when you present, but presentation is part of your grade, and points will be lost if you simply read because it makes you
seem unfamiliar with the topic. You are a busy genetic counselor and need to stay on track with your appointments for the day, so your
consult should stay between ​2 and 5 minutes​. Remember that you do not want to rush through it, because your clients will want to process
and take notes on this information that could have a big impact on their future.

List of conditions to be covered:

Albinism Hemophilia A and B

Congenital Adrenal Hyperplasia Huntington’s Disease
Cri-du-chat Klinefelter’s
Cystic Fibrosis Marfan syndrome
Down’s Syndrome Phenylketonuria
Duchenne Muscular Dystrophy Tay Sachs
Edward’s Syndrome Turner’s syndrome
Fatal Familial Insomnia William’s Syndrome
Fragile X Syndrome
 Name:_____________________ Genetic Disorder:______________________________ 

Human Genetic Disorders Rubric

Not Yet… EXPECTATIONS Excellent! SCORE
(Areas not yet meeting expectations) (Areas Exceeding Expectations)
Name​ of your disease (some diseases have more than /2
one name)
Which chromosome​ is affected? /2
What kind of ​mutation/issue​ causes this disorder /3
(duplication, deletion, inversion, translocation,
nondisjunction, etc)?
Is it a dominant, recessive, sex-linked, or an aneuploidy /3
mutation? (It may not be—may be something else)
Description/Symptoms​ of the disorder /5
Statistics​ - what proportion of people is affected and /2
are there any male/female differences in occurrence?
Possible ​therapies/treatments​ for this disorder? /2
Is there a cure?
Visual Aide /3
● Includes a picture of a person with the
condition if applicable
Work Cited​ – turned in, typed in correct MLA format /3
Presentation​ of disorder /33
● Presentation is between 2 and 5 minutes
● Makes eye contact with audience
● Speaks audibly (loudly enough)
● Demonstrates familiarity and preparation

Total: ____ / 33