Mini-Symposium on Genetic Disorders

Mini-Convention/Poster on Genetic Disorders

What is it? At scientific conventions, participants are given the opportunity to set up a display to share their current research projects. For this project, you are a scientist at a genetic disorder conference, and you have been asked to set up a display to educate other participants about a genetic disorder you have been studying. You will select and research one disorder, and prepare an informative poster. One class period, you will stand next to your poster and present to other students who visit your poster. Another day, you will visit stations to learn about other genetic disorders.

What should be included in your poster?

I. Introduction (2 pt) – What is the name of the disorder? Are there any other names by which it is commonly known? Do you know someone that suffers from this?

II. Modes of inheritance (2 pt) – 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, autosomal recessive trait, sex-linked trait, a chromosomal error or a multifactorial trait. Chromosomal errors include a missing chromosome, an extra chromosome, or a damaged chromosome. A multifactorial disorder is one that is caused by several genes or by a combination of genetic and environmental factors.

III. Clinical description of the disorder (6 pt) – What are the features of the disorder? How does it affect the individual? 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 found more commonly in certain groups of people, such as a particular ethnic group or gender?

IV. Treatment (5 pt) – Can anything be done for the disorder? Can the basic defects be treated? Can the symptoms or results of the disorder be treated? Is there a cure for this disorder? Is gene therapy available?

V. Detection (2 pt) – Can the disorder be detected before its symptoms appear? If so, how? Can it be detected prenatally? Is there any way to detect a carrier?

VI. Sources (3 pt) – You must include at least 3 reputable sources. Sites such as google & yahoo are search engines and should not be listed as sources. Sites such as Wikipedia can be modified by the general public and should not be used for this project. I recommend you start with the databases through the Guilford library, and sites such as Mayo Clinic & the Genetic Science Learning Center (University of Utah).

How will this activity be graded?

1. Thorough & Accurate Information (20 pt) – Did you include all information described above? How accurate was your information? Did you give any misinformation? Did you appear to know the information well? Did you answer questions accurately? Did you make the effort to pronounce all terms correctly? 2. Delivery/Presentation (5 points) – 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 your audience? Were you enthusiastic? 3. Effectiveness of Poster (5 points) – Is your information organized, easy to read & in your own words (don’t cut & paste...that’s plagiarism)? Did you include several pictures and/or diagrams to enhance your presentation? Does it look

Your disorder may be selected from the list below or you may choose another disorder with my approval. Only one person per class may select a disorder.

. Sickle-Cell Anemia . Maple Syrup Urine Disease (MSUD) . Turner’s Syndrome . Severe Combined Immunodeficiency . Klinefelter’s Syndrome Syndrome (SCID) . Hemophilia . Duchenne Muscular Dystrophy . Marfan Syndrome . Pituitary Dwarfism Syndrome . Phenylketonuria (PKU) . Galactosemia . Cystic Fibrosis . Diabetes Mellitus . Tay Sachs Disease . Diabetes Insipidus . Down Syndrome . Parkinson’s Disease . Huntington’s Disease . Alzheimer’s . Cri-du-chat Syndrome . Alcoholism . Osteogenesis Imperfecta . Colorblindness . Spina Bifida . Williams Syndrome . Anencephaly . Breast Cancer . Albinism . Hypothyroidism . Progeria . Adrenoleukodystrophy (ALD) . Crohn’s Disease . Retinoblastoma . Angelman Syndrome . Tuberous Sclerosis

Grading Check-list Introduction – 2 pt Detection – 2 pt Mode of Inheritance – 2 pt 3 Reputable Sources – 3 pt Clinical Description – 6 pt Delivery/Presentation – 5 pt Treatment – 5 pt Effectiveness of Poster – 5 pt TOTAL ______X 3 = ______/90 OR ______% Name ______Date ______Hour ______

Mini-Convention Genetic Disorder Poster Session – Fact Sheet

Name of Disorder 3 Interesting Facts Mode of Inheritance