Human Genetic Disorders Presentation Rubric

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Human Genetic Disorders Presentation Rubric 
Names:                                                                                                                   Disorder: 
This analytic rubric is used to verify specific tasks performed. If the task has been successfully completed, all points are awarded. 
 If the task is incomplete half points may be awarded. No points are awarded if the task is not attempted. 

                                                                                                                                           Group        Teacher
   Category                                                 Scoring Criteria                                               Points 
                                                                                                                                         Evaluation    Evaluation 
                     Chapter concepts for the topic are well covered. 
                                                                                                                             10                              
                     DNA, RNA, Genes, Traits, Meiosis, Alleles, Chromosomes 
 Background 
              The project uses the most current scientific information.
 Information                                                                                                                  5                              
               (Your ideas must be included, not just dictionary definitions.) 
   20 points 
              Information in the project is presented in the student's own words, not "cut 
                                                                                                                              5                              
              and pasted" from research sources. (complex terms are explained) 
                     1. The symptoms of the disease and its prognosis                                                         4                
                     2. How the disorder is diagnosed                                                                         3                
   Disorder          3. Inheritance of the disorder is explained                                                              4                
   Specifics 
   20 points         4. Presymptom testing. If so how is the test performed?                                                  3                
                     5. Treatments for disorder/ ways to minimize symptoms                                                    3                
                     6. Current and future cures                                                                              3                
                     A thesis statement makes the purpose of the presentation clear. 
   Auditory                                                                                                                   5                              
                     (Thesis statements do not begin, "this is about".) 
   10 points 
                     All presenters spoke clearly, loudly, and effectively                                                    5                
                     Presenters maintained eye contact and proper body posture                                                5                
                     Visual aids (posters, PowerPoint) are informative and used to increase 
    Visual                                                                                                                   15                              
                     understanding (Not just a printout of facts or pictures). 
   25 points 
                     Visual aids are neatly made, easy to read and generally free of distractions 
                                                                                                                              5                              
                     (no laser beam sounds, dancing babies etc).  
                     Presentation is wellprepared and organized with all materials present and                                                 
                                                                                                                             10 
                     ready to go (no "Ohh we forgot it at home").                                                                                            
    Overall 
   25 points         Appropriate responses to audience question                                                              10                
                     There are no spelling errors or visible corrections.                                                     5                
     Quiz            10question multiple choice quiz with answer key emailed to 
                                                                                                                                                             
   10 points         sotterspoor@darienps.org  
   Citations         Citations shared on NoodleTools. Works cited contains the appropriate 
                                                                                                                             10                              
   10 points         numbers of book, internet and electronic sources. 

     Score                                                    Total Points                                                  125                              

     Self            Students are expected to honestly evaluate their own work. If the difference between the student evaluation and 
  evaluation         the teacher evaluation is less than 5 points, 5 points will be added to the final score when the grade is recorded. 
                     All projects will be completed by the assigned deadline. Materials submitted the day after the class period will 
   Deadline          receive 1/4 credit. Materials turned in after that time will be mulched for use in the greenhouse. The due date for 
                     this assignment is: ___________ 
                         Human Genetic Disorders  Research Project
Your research team will be assigned a human genetic disorder to research. Through the various materials
available to you in the Darien High School Library, you must answer the following questions:


1. What are the symptoms of the disease and the prognosis for someone with the disorder?
2. How is the disease diagnosed?
3. How is the disease inherited?
4. Is there a way to determine if a person carries the gene for the trait prior to showing symptoms of the
   disease or before passing the trait on to his or her offspring? If so, how is the test performed?
5. What, if any, treatment exists for the disease?
6. What, if any, potential cure is there for the disease?


After completing the background research your research, team will present a FIVE- (cinco) to SEVEN-
(VII) minute presentation on the disease. In the presentation you MUST provide the class with the
information that fully and correctly answers all of the questions listed above. Your group will also need to
be prepared to answer questions from your peers. You will need to use visual aids to help explain the
inheritance of the disease or to illustrate symptoms, etc.


In addition to your presentation, your group must prepare a 10-question multiple choice quiz based upon
what you think are the most important facts. You must turn in your typed quiz with a separate answer key.
YOU MUST KEEP YOUR QUIZ QUESTIONS SECRET. Revealing your questions or answers to the
rest of the class will be considered cheating and result in a zero for your group.


    You will have two class periods in the library to work on the research portion of this assignment.
          You will need 2 books, two internet sites and 1 electronic database per team member
                 You will not have any other group time provided during class or lab.


Your presentations, along with a completed rubric, will be due on _____________________
Human Genetic Disorders Project                              Name: ______________ Period ___


1. What are the symptoms of the disease?




2. What is the prognosis (expected outcome of the disease) for someone with the disorder?




3. How is the disease diagnosed?




4. How is the disease inherited? (include the chromosome number where it is it found)




5. Is there a way to determine if a person carries the gene for the trait prior to showing symptoms of the
   disease or before passing the trait on to his or her offspring? If so, how is the test performed?




6. What, if any, treatment exists for the disease?




7. What, if any, potential cure is there for the disease?
Otterspoor's Human Genetic Disorders List


1.  Achondroplasia : Mutated FGFR3 gene chromosome 4 Dominant (homozygous is fatal)
2.  Down Syndrome: Trisomy 21  nondisjuction
3.  Edwards Syndrome: Trisomy 18  nondisjuction
4.  Turner's Syndrome: Nondisjunction
5.  Huntington's disease: triplet repeat (IT15 gene on chromosome 4)
6.  Klinefelters syndrome: extra X (can be Nondisjunction)
7.  Color Blindness: X-linked Recessive
8.  Cri du chat Syndrome: deletion on chromosome 5
9.  Tay Sachs: mutation of Hex-A gene chromosome 15 recessive
10. Maple Syrup Urine Disease: Chromosome 19 Y438N Allele recessive affects the metabolism of the
     branched chain amino acids




                  Achondroplasia                                   Achondroplasia

         Down Syndrome: Trisomy 21                         Down Syndrome: Trisomy 21

       Edwards Syndrome: Trisomy 18                       Edwards Syndrome: Trisomy 18

               Turner's Syndrome:                                Turner's Syndrome:

              Huntington's disease:                             Huntington's disease:

              Klinefelters syndrome:                           Klinefelters syndrome:

                  Color Blindness:                                 Color Blindness:

              Cri du chat Syndrome:                            Cri du chat Syndrome:

                     Tay Sachs:                                       Tay Sachs:

          Maple Syrup Urine Disease:                        Maple Syrup Urine Disease:
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