Genetic Disorder Brochure

URGENT!!! There is need to quickly educate government officials about genetic disorders. Lobbying groups are trying to ask these officials to allocate money for research and future funding. The officials have ordered the production of brochures that are designed for the general public about specific genetic disorders. You will need to find this information and format it in an easy to read brochure. Then, you will “practice” your presentation of your research to your colleagues (classmates) before you present it before the government officials.

Presentation Date(s): ______

Information to include on the Brochure:

Use the information from your Project Sheet!

·  description of your disorder

·  how your disorder is inherited

·  symptoms of your disorder

·  age at which your disorder shows up

·  possibilities of testing parents and/or fetus

·  effect of the disorder on the patient and on the family

·  treatment of the disorder and costs of treatment

Your presentation should

·  have accurate information

·  be free of spelling or grammar errors

·  have some graphics that are relevant to the topic

·  use a font that is readable for the average person

·  have a design that is clean and clear

·  be colorful

·  use terminology that the average person can understand (not too technical; simplify if needed)

Genetic Disorders to choose from include:

1.  Achondroplasia
2.  Achromatopsia
3.  Acid Maltase Deficiency
4.  Adrenoleukodystrophy
5.  Aicardi Syndrome
6.  Alpha-1 Antitrypsin Deficiency
7.  Androgen Insensitivity Syndrome
8.  Apert Syndrome
9.  Ataxia Telangiectasia
10.  Barth Syndrome
11.  Blue Rubber Bleb Nevus Syndrome
12.  Canavan Disease
13.  Cri Du Chat Syndrome
14.  Cystic Fibrosis
15.  Dercum's Disease
16.  Ectodermal Dysplasia
17.  Fanconi Anemia
18.  Fragile X Syndrome
19.  Galactosemia
20.  Gaucher Disease
21.  Hemochromatosis
22.  Hemophilia
23.  Huntington's Disease
24.  Hurler Syndrome
25.  Klinefelter Syndrome
26.  Krabbes Disease
27.  Langer-Giedion Syndrome
28.  Leukodystrophy
29.  Long QT Syndrome / 30.  Marfan Syndrome
31.  Moebius Syndrome
32.  Mucopolysaccharidosis (MPS)
33.  Nail Patella Syndrome
34.  Neurofibromatosis
35.  Niemann-Pick Disease
36.  Osteogenesis Imperfecta
37.  Porphyria
38.  Prader-Willi Syndrome
39.  Progeria
40.  Proteus Syndrome
41.  Retinoblastoma
42.  Rett Syndrome
43.  Rubinstein-Taybi Syndrome
44.  Sanfilippo Syndrome
45.  Shwachman Syndrome
46.  Sickle Cell Anemia
47.  Smith-Magenis Syndrome
48.  Stickler Syndrome
49.  Tay-Sachs
50.  Treacher Collins Syndrome
51.  Trisomy 21
52.  Tuberous Sclerosis
53.  Turner's Syndrome
54.  Urea Cycle Disorder
55.  von Hippel-Lindau Disease
56.  Waardenburg Syndrome
57.  Williams Syndrome
58.  Wilson's Disease

These links are general and will have information about several of the listed disorders:

National Center for Biotechnology Information - http://www.ncbi.nlm.nih.gov/disease/index.html

National Center for Biotechnology Information - Online Inheritance in Man

http://www3.ncbi.nlm.nih.gov/Omim/

Med Help International http://medhelp.org

National Organization for Rare Diseases http://www.rarediseases.org/

NOTE: Each student in the class must choose a different genetic disorder to research.

RUBRIC for Genetic Disorder Brochure

Category / Possible Points / Requirements / Points Earned
Cover Page
(name of disorder & image) / 5 / None provided = 0 pts
Title, but no image = 2 pts
Title & image = 5 pts
Description
(in paragraph format and with symptoms listed) / 15 / None provided = 0 pts
Description provided( not in paragraph format); no symptoms = 5 pts
Description in paragraph format; no symptoms = 10 pts
Description in paragraph format; includes symptoms = 15 pts
Expression
·  At what age does this disease first become evident?
·  Is the disorder variably expressed? / 10 / None provided = 0 pts
Answers only one of the questions = 5 pts
Answers both questions = 10 pts
Prevalence
·  What is the % of people who have this?
·  If it is a RARE disorder, how many people have been affected by it? / 5 / None provided = 0 pts
Provided = 5 pts
Type of Disorder
·  What chromosome(s) is/are affected?
·  Is it sex-linked?
·  Is it dominant or recessive? / 10 / None provided = 0 pts
1 of 2 requirements = 5 pts
2 of 2 requirements = 10 pts
Testing/Diagnosis
·  How is the person diagnosed?
·  Is this disorder due to a chromosomal mutation, and is it able to be detected before birth?
·  Can the parents be tested to see if they are carriers? How does this work? / 10 / None provided = 0 pts
Answers only one of the questions = 3 pts
Answers only two of the questions = 7 pts
Answers all three of the questions = 10 pts
Treatment
·  What is the treatment?
·  How much does treatment cost? / 10 / None provided = 0 pts
Answers only one of the questions = 5 pts
Answers both questions = 10 pts
Family Life
·  How is the family impacted? / 5 / None provided = 0 pts
Answers the question = 5 pts
Works Cited
(minimum of 3 sources)
one should be from a database) / 10 / None provided = 0 pts
Only 1 source = 3 pts
Only 2 sources = 7 pts
3 or more sources = 10 pts
Format
(5 pts ea: easy to read; images/pictures; use of color; bullets) / 20 / None provided = 0 pts
1 of 4 requirements = 5 pts
2 of 4 requirements = 10 pts
3 of 4 requirements = 15 pts
4 of 4 requirements = 20 pts
NOTE: the PRESENTATION will count as a separate “Participation” grade

TOTAL SCORE = ______