Download mini-symposium on genetic disorders

BIOLOGY
DUE DATE: Feb. 12, 2016
EXTRA CREDIT PROJECT – 4th Six Weeks;
GENETIC DISORDER
Make a Powerpoint presentation (at least 12 slides), a pamphlet, a poster or a
research paper on one of the Genetic Disorders listed. Research paper must be
double spaced and at least 2 pages in length. You will print the Powerpoint
presentation and turn it in (you may print 6 slides per page, does not have to be
color)
What must be included?
1. Introduction
o What is the name of the disorder? Are there any other names by which it is
commonly known?
2. Mode of inheritance
o 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. an extra chromosome 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
o 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 particular sex?
4. Treatment
o 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?
5. Detection
o 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?
6. Real life story – Find information on someone with the disorder.
7. References – 3-5 references should be cited.
******CHOOSE A DISORDER FROM THE NEXT PAGE*******
YOUR DISORDER MAY BE SELECTED FROM THE LIST BELOW
1. Sickle-Cell Anemia
2. Breast cancer
3. Edward's Syndrome/Patau's
Syndrome
4. Turner's Syndrome
5. Polycystic kidney disease
6. Cooley's anemia
7. Gaucher's disease
8. Hemophilia
9. albinism
10. Familial Hypercholesterolemia
11. diabetes mellitus
12. Neurofibromatosis
13. diabetes insipidus
14. fragile X syndrome
15. Phenylketonuria
16. Cystic Fibrosis
17. Alzheimers
18. Tay Sachs Disease
35. Hydrocephalus
36. Malignant Hyperthermia
37. Osteogenesis Imperfecta
38. Waardenburg Syndrome
39. Infantile Bilateral Striated
Necroses
40. Myoclonic Epilepsy
41. Omithine Transcarbamylase
Deficiency
42. Mitochondrial
Encephalomyopathy
43. Monsomy 21
44. Angelman Syndrome
45. Hunter Syndrome
46. Lissencephaly
47. Jumping Frenchman of Maine
Syndrome
48. Carr-Barr -Plunkett Syndrome
49. Kesaree-Wooley Syndrome
50. Barr-Shaver-Carr Syndrome
51. Porphyria
52. Homocystinuria
19. colorblindness
20. Down Syndrome
21. epidermolysis
22. Duchenne Muscular
Dystrophy23. Burkitt lymphoma
23. Cri-du-chat Syndrome
24. Pituitary dwarfism syndrome
25. Galactosemia
26. Immune deficiency diseases
(Boy in the bubble)
27. Polydactyl
28. Osteogenesis Imperfecta
29. Sensorineural deafness
30. Spina Bifida/Anencephaly
31. Edward Syndrome (Trisomy 18)
32. Hirschsprung Disease
33. Incontenentia Pigmenti
34. Lesch-Nyhan Syndrome