MINI-SYMPOSIUM ON GENETIC DISORDERS

What is it?
A symposium is a meeting where participants give oral presentations on subjects revolving
around a common theme. Our mini-symposium is based on the theme of genetic disorders. Each
of you will select one disorder from the list, research information on the disorder, and prepare
and deliver a comprehensive, concise, and complete oral presentation to the class.

Each presentation must be at least three minutes and not more than five minutes in length. A time
for questioning will follow each presentation.

Since you are expected to be an expert on the disorder you choose, you must deliver your talk
WITHOUT reading it. You will be given an index card on which you may jot down a few
NOTES (not a script). Only one side of the card may be used. You will have it only as a
reminder of what you are going to say, NOT as a list of statements you are going to make. You
may also include any difficult-to-spell terms that you wish to write on the board. Your references
will be listed on the back of the index card. It will be turned in as soon as your talk is over.

What must be included in the presentation?

The presentation should follow the outline below. The questions listed are designed to provoke
thought and to help you determine what is significant and what is not. They are not to be
answered individually as a question and answer session. These questions are strictly to
guide you.

1. Introduction. What is the name of the disorder? Are there any other names by which it
is commonly known?
2. Mode of inheritance. All genetic disorders are inherited. There are several different
ways in which they can be inherited.
 Determine whether your disorder is an autosomal dominant trait, an autosomal
recessive trait, an X-linked recessive trait, a chromosomal error or a multifactorial
trait (polygenic disorder).
 Chromosomal errors may take several types: a particular missing chromosome
(e.g. a missing X chromosome), an extra chromosome (e.g. Trisomy 21), or a
damaged chromosome (e.g. part of a chromosome deleted).
 A multifactorial disorder is one which is caused by several genes or by a
combination of genetic and environmental factors.
3. Clinical description of the disorder. What are the features of the disorder? How does it
affect the victim? What is it like to have the disorder? How would you describe the
disorder to someone else? What is the disorder like externally, internally, biochemically,
psychologically, etc.? What problems are associated with the disorder? Is the disorder
physically limiting? Is it life-threatening? Is it invariably fatal? Is it found more
commonly in certain groups of people, such as a particular ethnic or religious group or a
particular gender?
4. Detection. Can the disorder be detected before its symptoms appear? If so, how? Can it
be detected prenatally? If so, how? Is there any way to detect a carrier of the disorder? If
so, how?
5. Treatment. Can anything be done for the disorder? Can the basic defect be treated? Can
the symptoms or results of the disorder be treated? Is there a cure for the disorder? Is
there any gene therapy for the disorder?
How will this activity be graded?
You will receive a project grade of 100 points. Seventy (70) points of your grade will be based
on your presentation. The following factors will be used to determine that part of the grade:

1. Accuracy - How accurate was your presentation? Did you give any misinformation? Did
you appear to know the information well? Did you answer questions accurately? Did you
make the effort to insure that all terms were pronounced correctly? (30 points)
2. Following directions - Did you stick to the time limits? Did you make your note card
and use it properly? Did you include all the required information? (15 points)
3. Delivery - Did you speak loudly and clearly? Were you too fast or too slow? Did you
appear confident and poised? Did you have proper eye contact with the class? Were you
enthusiastic? Did you avoid silliness? (15 points)
4. Use of visual aids - Did you use the board/overhead well? Did you use any other visual
aids such as pictures, charts, objects, demonstrations, handouts, etc? Some disorders
have interesting pictures while others do not. If your presentation is thorough without
visual aids, then that’s OK, too. (5 points)
5. References – Did you use at least two references? All references used must be listed on
the back of your index card. Do not worry about the format of your reference list. Just
put down the book or journal title plus author, website, etc. Remember, Google is not a
reference.

You will also receive a participation grade as an audience/symposium member for each day of
the symposium. The remaining thirty (30) points will be determined by your attention to each
presentation, respect for your classmates, and participation in the questions and answers.

Library Passes
We will work on this project during one class period. I will write two additional library passes
for each of you to work on your project outside of class. You must show me this assignment
sheet with your planner to get a library pass. More passes may be given on a case-by-case basis.

#1 ________________________ #2 ________________________
Date/Time Date/Time

Presentations will be between February 24th and March 10th. I will post a schedule for you
to sign up for a time slot; again first come, first served. Your time slot is your due date. Late
work will be assessed penalties. If you are absent on your presentation day, I expect you to turn
in a note card and/or outline of your presentation with all visual aids on that day.
YOUR DISORDER MAY BE SELECTED FROM THE LIST BELOW. If you find another
genetic disease that you wish to present, please speak with me to get approval. Only one student
per block will present each disease. You must sign up with Mr. Bedinger when you decide
which disease to present. First come, first served.

Disease Disease
Sickle-Cell Anemia Cystic Fibrosis

Breast cancer Alzheimer disease

Amyotrophic Lateral Sclerosis (ALS) Tay Sachs Disease

Edward's Syndrome/Patau's Syndrome colorblindness

Turner's Syndrome Down Syndrome

Polycystic kidney disease epidermolysis

Klinefelter's Syndrome Duchenne Muscular Dystrophy

3-M Syndrome Incontinentia pigmenti

Pompe disease Huntington Disease

Gaucher disease Burkitt lymphoma

Hemophilia Cri-du-chat Syndrome

albinism Pituitary dwarfism syndrome

retinitis pigmentosa Galactosemia

Familial Lipoprotein Lipase Deficiency Severe Combined Immunodeficiency (SCID)

Neurofibromatosis Cleft Lip/Palate

Parkinson's disease Polydactyly

Marfan Syndrome Osteogenesis Imperfecta

Fragile X syndrome Familial Dysautonomia

Phenylketonuria Spina Bifida/Anencephaly

Celiac disease
The following websites and databases may help in your research:

o ProQuest Platinum – available here at school

o GenesTest – http://www.genetests.org
o Genetics Education Center - http://www.kumc.edu/gec/support/
o Medline Encyclopedia Plus – http://www.nlm.nih.gov/medlineplus/encyclopedia.html
o Neurological Disorders – http://www.ninds.nih.gov/disorders/disorder_index.htm
o New York Online Access to Health – http://www.noah-health.org/en/search/a2z.php

Search tips:
 Use quotation marks, ex. “fragile X syndrome”
 Use + or – signs, ex Muscular Dystrophy+symptoms
 Use Advanced Search when possible
 Our Librarians are experts at research. They are standing by to assist
you in any way they can.