GENETIC DISORDERS PROJECT INSTRUCTIONS

Biology Human Genetics (150 points)

Project Due Date: March 14

You must have:
1)a 4-6 minute PowerPoint presentation OR a Storyboard (Tri-fold) Poster. All information should be typedin your own words. You should be able to explain the meaning of any term you use in your presentation. You should also be able to correctly pronounce all terminology.
Project information should be presented in this order:
1)name(s) of disorder and origin(s) of the name(s)
2)type of genetic disorder (Ex. Single gene, deletion, chromosomal, sex-linked, nondisjunction, mitochondrial, polygenic …)
3)chromosome graphic (Ex. Picture of a karyotype, specific location of a gene on a chromosome…)
4)symptoms (any subjective evidence of disorder or of a patient's condition)
5)effects (results of having the disorder)
6)diagnosis (criteria for determining a person has the disorder)
7)prognosis (predicts the outcome of a disease and therefore the future for the individual.)
8)treatments (methods for dealing with the disorder)
9)current research (developments within last 5 years)
10) 2nd graphic related to disorder(Ex. Picture of individual with disorder, picture of objects used in treatment, diagnosis…)
11) a summary of a true story of a person who has this disorder or has a child with this disorder.
2) A works cited page withat least four sources (cited on a sheet of paper using MLA format -go to the WHS website, choose the media center tab and the choose Properly citing sources of informationfor info/examples)
*If you use websites from Destiny, copy/paste the Destiny article summary info into a word document–this will be turned in to me with your works cited page. Websites that are not found in Destiny may still be used however you must fill out a Web Site Evaluation form for each website you use. Go to WHS website, media center, evaluating sources. These will also be turned in with your works cited page.
3) a printout of your PowerPoint handouts IN FINAL FORM!
4) a worksheet/study guideabout your disorder for your classmates to complete during your presentation (should be a one page handout designed to give your classmates a way to record basic info about your disorder, not a copy of your powerpoint.)

Here are some suggested genetic disorders; others may be approved:

  1. Achondroplasia
/ 26. / Angelman syndrome
  1. Adrenoleukodystrophy (ALD)
/ 27. / Bardet-Biedl Syndrome
  1. Albinism
/ 28. / Barth Syndrome
  1. Cleft lip/cleft palate – X-linked type
/ 29. / Bloom Syndrome
  1. Color Blindness
/ 30. / Jackson-Weiss Syndrome
  1. Cretinism (congenital hypothyroidism)
/ 31. / Rheumatoid Arthritis
  1. Cri-du-Chat Syndrome (Cry of the Cat)
/ 32. / Ataxia Telangiectasia
  1. Cystic Fibrosis
/ 33. / Clubfoot
  1. Duchenne muscular dystrophy
/ 34. / Fanconi's Anemia
  1. Fragile X
/ 35. / Friedreich's Ataxia
  1. Hemophilia
/ 36. / Klein-Waardenburg Syndrome
  1. Huntington's Chorea
/ 37. / Lupus
  1. Klinefelter's Syndrome
/ 38. / Polycystic Kidney Disease
  1. Marfan's Syndrome
/ 39. / Rh Factor
  1. Neurofibromastosis
/ 40. / Spina Bifida
  1. PKU (Phenylketonuria)
/ 41. / Von Willebrand's Disease
  1. Progeria
/ 42. / Xeroderma Pigmentosa
  1. Usher Syndrome
/ 43. / Hurler-Schele Syndrome
  1. Sickle Cell Anemia (and/or Thalassemia)
/ 44. / Hypertrichosis
  1. Tay-Sach's
/ 45. / Lesch–Nyhan Syndrome
  1. Tourette’s Syndrome
/ 46. / Primordial dwarfism
  1. Trisomy 13 (Patau Syndrome)
/ 47. / Achromatopsia
  1. Trisomy 18 (Edward’s Syndrome)
/ 48. / Nail-Patella Syndrome
  1. Turner's Syndrome
/ 49. / Osteogenesis Imperfecta
  1. XYY syndrome
/ 50. / Porphyria
51. / Retinoblastoma

I have included a copy of your grading rubric. 122 points will come from the research project. The remaining 28 points will come from your presentation.

Genetic Disorder Project Rubric (150 points)

PowerPoint or Storyboard / Points possible / Points earned
1)Name of disorder
a)spelled correctly
b)alternate names for disorder included
c)name pronounced correctly
d)How the name was chosen
e)Who/when/where/how discovered / 5
2)Type of genetic disorder
a)specific type of disorder given with brief explanation of what that type of disorder is. (Ex. If the disorder is present because there is trisomy of 21st chromosome, explain what trisomy means.)
b)Explain how the disease is inherited. / 15
3)Chromosome/genetics graphic
a)your particular disorder is represented by a graphic of a chromosome, karyotype, punnett square, pedigree…etc.
b)location of genetic cause clearly marked if chromosome picture is used. / 5
4)Symptoms of disorder
explanation of all possible symptoms and effects of disorder. / 8
5)Effects of disorder
explanation of all possible effects of
disorder. / 8
6)Diagnosis of individual with disorder
a)explain how doctors determine a person has the disorder.
b)Specific tests used in diagnosis / 10
7)Prognosis of individual with disorder
a)For example, the life expectancy of a person with the disorder, limitations they may face, etc.
b)How does this disorder impact the person who has it?
c)How does this disorder impact family members? / 10
8)Treatments/medications available to individual with disorder
a)Current treatments of disorder and current treatment of symptoms
b)Treatments used in the past
c)Is gene therapy a possibility? / 10
9)Current research
Find at least one facility/foundation that is researching this disorder and explain what they are working towards in the future. / 5
10)2nd graphic related to your chosen disorder / 5
11)Summary of one great story about an affected individual or the parents/family of the affected individual (Do not just link a website to your powerpoint.) / 10
12) Works Cited Page
a) at least four sources
b) at least one of four sources from internet
c) sources properly cited
d) each non-Destiny internet site evaluated using
the Internet Web Site Evaluation form (If
evaluations are not included, that source will
not count.) / 20
15) Presentation done in a timely manner.
a) storage device scanned ahead of time
b) presentation lasts 4-6 minutes
c) information presented in assigned order / 5
***If a storyboard format used, all information MUST BE TYPED and presented on the front side of the poster. / 6
***If a powerpoint, hard copy of slides turned in. Use handout option with six slides per page. You may NOT email your project to Mrs. Rogers. / 6

Project Deductions

Students are expected to act in a first class manner at all times during student presentations.

Students who choose to be disrespectful or disruptive will lose 5 points from their presentation for each disruption. This includes any and all comments made while a presenter is speaking. Any student interrupting more than three times will be sent to grade level for disciplinary action.

Students who rest their head on their table, bookbag, etc. during presentations will have 5 points deducted each time they do so.

Any APPROPRIATE questions should be asked at the end of each presentation

Students need to use the restroom/get water before coming to class on presentation days!

Presentation Rubric (28 points possible)

1 / 2 / 3 / 4 / Total
Organization
and appearance / Audience cannot understand presentation because there is no sequence of information. Graphics and text are poorly presented. Lacks creativity. / Audience has difficulty following presentation because student jumps around. Graphics and text are somewhat balanced.
Creativity minimal. / Student presents information in logical sequence which audience can follow. Attractive format and creative in appearance. / Student presents information in logical, interesting sequence which audience can follow. Exceptionally attractive and creative format.
Subject Knowledge / Student does not have grasp of information; student cannot answer questions about subject. / Student is uncomfortable with information and is able to answer only rudimentary questions. / Student is at ease with expected answers to all questions, but fails to elaborate. / Student demonstrates full knowledge (more than required) by answering all class questions with explanations and elaboration.
Graphics / Student uses superfluous graphics or no graphics / Student occasionally uses graphics that rarely support text and presentation. / Student's graphics relate to text and presentation. / Student's graphics explain and reinforce screen text and presentation.
Mechanics / Student's presentation has four or more spelling errors and/or grammatical errors. / Presentation has three misspellings and/or grammatical errors. / Presentation has no more than two misspellings and/or grammatical errors. / Presentation has no misspellings or grammatical errors.
Eye Contact / Student reads all of report with no eye contact. / Student occasionally uses eye contact, but still reads most of report. / Student maintains eye contact most of the time but frequently returns to notes. / Student maintains eye contact with audience, seldom returning to notes.
Elocution / Student mumbles, incorrectly pronounces terms, and speaks too quietly for students in the back of class to hear. / Student's voice is low. Student incorrectly pronounces terms. Audience members have difficulty hearing presentation. / Student's voice is clear. Student pronounces most words correctly. Most audience members can hear presentation. / Student uses a clear voice and correct, precise pronunciation of terms so that all audience members can hear presentation.
Demeanor / Student uses inappropriate humor, is disrespectful towards subject matter and shows lack of tact in presentation. / Student is respectful of subject matter but lacks tact in the presentation. Also uses inappropriate humor. / Student is respectful of subject matter and tactful in presentation. Inappropriate humor in presentation. / Student respectful of subject matter and tactfulin presentation. If humor is used, it is appropriate.
Total Points: