Download Human Genetic Disorders

Human Genetic Disorders
There are many different genetic disorders that can affect us: some are fatal, some affect us
from birth, while some only strike as we get older. For this project, you will design a 3-5
minute Keynote presentation on one human genetic disorder.
In the presentation you must include the following:
1.
2.
3.
4.
5.
6.
7.
8.
9.
The scientific name of your disease/disorder.
If it has a common name, what is it?
How does it affect the body? (Physical appearance, mannerisms, etc.)
At what point in a person’s life does it affect them?
What is the genetic cause? Which chromosome and gene is affected and
what does it control? (Create a gene/chromosome model…see below)
How often does it happen/appear? (1 out of how many people/births?)
Can it be passed on to the next generation?
Can it be treated? If so, how?
A picture of the disease, an example of what a person looks like who has the
disease, pictures of the symptoms, and pictures of scientists involved in finding
a cure or any image that helps tell the story.
Chromosome/Gene Model: Using your
own materials or those around the
classroom, create a hanging model of a
chromosome showing the location of the
genes affected by your disorder. Attach
an index card that includes:
1) The name of your disorder
2) The name/number of the
chromosome and gene that is/are
affected
3) Shows the location of the affected
gene.
4) Can hang from ceiling w/ model
**Also include your name, period on the intro slide and sources on the last slide**
1. Achrondroplasia
2. Acid Maltase Deficiency
36. Acromatopsia
3. Aicardi Syndrome
37. Adrenoleukodystrophy
4. Androgen Insensitivity Syndrome
38. Alpha-1 Antitrypsin Deficiency
5. Arrhythmogenic Right Ventricular Dysplasia
39. Apert Syndrome
6. Blue Rubber Bleb Nevus Syndrome
40. Ataxia Telangiectasia
7. Cri Du Chat Syndrome
41. Canavan Disease
8. Dercum’s Disease
42. Cystic Fibrosis
9. Fanconi Anemia
43. Down Syndrome
10. Fragile X Syndrome
44. Fibrodysplasia Ossificans Progressiva
11. Gaucher Disease
45. Galactosemia
12. Hemophilia
46. Hemochromatosis
13. Hurler Syndrome
47. Huntington’s Disease
14. Klinefelter Syndrome
48. Hypophosphatasia
15. Langer-Giedion Syndrome
49. Krabbes Syndrome
16. Long QT Syndrome
50. Leukodystrophy
17. Moebius Syndrome
51. Marfan Syndrome
18. Neurofibromatosis
52. Mucopolysaccharidosis (MPS)
19. Osteogenesis Imperfecta
53. Nephrogenic Diabetes Insipidus
20. Pradar-Willi Syndrome
54. Niemann-Pick Disease
21. Proteus Syndrome
55. Porphyria
22. Rett Syndrome
56. Progeria
23. Sanfilippo Syndrome
57. Retinoblastoma
24. Sickle Cell Disease
58. Rubinstein-Taybi Syndrome
25. Spina Bifida
59. Shwachman Syndrome
26. Stickler Syndrome
60. Smith-Magenis Syndrome
27. Treacher Collins Syndrome
61. Spinal Muscular Atrophy
28. Tuberous Sclerosis
62. Tay-Sachs
29. Urea Cycle Disorder
63. Trisomy
30. Waardenburg Syndrome
64. Turner’s Syndrome
31. Thrombocytopenia Absent Radius (TAR) Syndrome
65. Von Hippel-Landau Disease
32. Patau’s Disease
66. Williams Disease
33. Werdnig-Hoffman Disease
67. Edwards Disease
34. Kennedy’s Syndrome (bulbo-spinal
68. Albinism
muscular dystrophy)
35. Nail Patella Syndrome
69. Kugelberg-Welander Disease
70. Christmas Diseases
71. Cancers
72. OTHER
Name:
Genetic Disorder Presentation
Content
Informational
Text and Oral
Presentation
Visual
Presentation
Voice and Eye
Contact
10
The information
presented gives a
clear and thorough
overview of your
disorder and
questions 1-9.
10
Only the KEY points
are included as text.
The presented text is
significantly
enhanced through the
oral presentation.
4
Creates an attractive
and effective
presentation with
good use of font,
color, illustrations
and space.
4
Voice is loud and
clear. Eye contact
with the audience is
maintained with
minimal dependence
upon cue cards.
9
8
7
The information
presented gives an
overview of your
disorder and includes
responses to questions
1-9. Some responses
to 1-9 may be lacking
detail or missing.
9
8
7
The text includes key
points and some
details that could be
better enhanced
through the oral
presentation.
3
Creates an effective
presentation that
makes appropriate use
of font, color,
illustrations and
space.
3
Voice is mostly
audible and clear.
Eye contact is partly
maintained with some
dependence upon cue
cards.
6
5
4
3
The information
presented gives an
overview that may is
vague or missing
details. There may be
2 or more responses
for questions 1-9
missing.
6
5
4
3
The text serves as the
majority of the
information presented
and is only partly
enhanced through the
oral presentation.
2
Makes use of font,
color, illustrations
and space, but
occasionally these
detract from the
presentation.
2
Voice is somewhat
inaudible and/or
unclear. Dependence
on cue cards is
limiting eye contact.
Period:
points out of 28 =
%
2
1
0
There is some
information presented,
but it does not provide an
overview of your disorder
and/or questions 1-9 are
insufficiently addressed
or several are missing.
2
1
0
Very little or none of the
text is enhanced through
the oral presentation.
1
The use of font, color,
illustrations and space is
poor, and only detracts
from the presentation.
1
Voice is inaudible and/or
unclear. Eye contact is
minimal and most
information is read
straight from cue cards.