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HUMAN GENETIC DISORDERS A RESEARCH PROJECT St. Johns Country Day School Grade 9 Biology Dr. Rom á n Roman 2016 GENETICS DISORDER RESEARCH PROJECT (Modified from a class project on the Santa Barbara High School website) You have been challenged to incorporate your knowledge about cells, cell division, genetics, DNA, and proteins to research and present on a specific genetic disorder. You have already completed your basic study about the ideas of genetics and mutations. Now with your knowledge you are being asked to research a specific human genetic disorder and give a short but thorough and wellresearched oral presentation. Many people are affected by genetic disorders; you may even have some family members or friends with some of these diseases. I suggest that you choose a disorder that affects someone you know or intrigues you because it is strange or interesting. The goal is to research the disorder and orally present information and a recent research article (last 5 years). Presentation Requirements Introduce the disorder ● What happens to the body? ● Phenotypes and traits associated ● What part of the body does it generally affect? ● Symptoms What causes the disorder? ● What happens in the body cells to cause the disease? ● Is it a mutation? A genetic tendency triggered by other factors? What kind of mutation, chromosomal or point mutation? ● Name of the gene is affected? ● Name of protein coded by the gene? ● Function of the protein? ● Contrast normal vs. defective protein Genetics ● How is the disorder inherited? ● Is it sex-linked? ● Which chromosome? ● Is it recessive or dominant? Diagnosis : How is the disorder diagnosed? ● What tests are done by health professionals to determine if individual has the disease? Treatment : How is the disorder treated? ● Medications? ● Gene therapy? - how? ● Physical or other therapy Geographical distribution ● Is it more common in a certain group of people? ● How common is it worldwide? In the US? ● How common is in the US? Application of research article (present at least one aspect recommended below) ● Find a recent research article (5 years or less) related to this disease and present main points ● Find a research lab or other group investigating any aspect related to the disease and describe the type of research they are conducting 2 Roman 2016 USEFUL REFERENCES National Human Genome Research Institute http://www.genome.gov/10001204 Genetic Disorder Library, University of Utah http://learn.genetics.utah.edu/content/disorders/whataregd/ Learn more about different genetic disorders, browse through the Genetic Disorder Library. Genetics Education Center http://www.kumc.edu/gec/ Help educate people about genetics. Teens Health http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html The Basics on Genes and Genetics Disorders. Understanding Gene Testing – These sites will help you with understanding genetic terms and disorders. Gene Testing, National Cancer Institute http://www.cancer.gov/cancertopics/understandingcancer/genetesting Understanding Genetic Testing, Center for Genetics Education http://www.genetics.edu.au/Information/UnderstandingGeneticTesting List your references to help you track the various websites, articles, etc. you use for your project. Make sure that you do not list “wikipedia”, “google” or “yahoo” as a resource. FREQUENTLY ASKED QUESTIONS Q: Can I use Wikipedia as a source? A: No. Although wikipedia is a great source for getting general information or answering a quick question, the information on the website is constantly changing and can be updated by anyone (including you!). Sources you cite should come from experts in the field you are researching. Q: Can I cite Google or Yahoo as my source? A: No. Google and Yahoo are search engines that will take you to websites that can be cited. However, they are not the creators of the information CITING A WEB PAGE Your work must be cited in APA format Science Buddies Staff. (2014, October 27). From Genes to Genetic Diseases: What Kinds of Mutations Matter? Retrieved February 21, 2015 from http://www.sciencebuddies.org/sciencefairprojects/project_ideas/BioMed_p007.shtml 3 Roman 2016 Genetics Disorder Cumulative Research Presentation Requirements Introduce the disorder ● What happens to the body? ● Phenotypes and traits associated ● What part of the body does it generally affect? ● Symptoms Cumulative Research Sites: _________________________________ ____________________________________ What causes the disorder? ● What happens in the body cells to cause the disease? ● Is it a mutation? A genetic tendency triggered by other factors? What kind of mutation, chromosomal or point mutation? ● Name of the gene is affected? ● Name of protein coded by the gene? ● Function of the protein? ● Contrast normal vs. defective protein Sites: _________________________________ ____________________________________ Genetics ● ● ● ● How is the disorder inherited? Is it sex-linked? Which chromosome? Is it recessive or dominant? Sites: _________________________________ ____________________________________ Diagnosis : How is the disorder diagnosed? ● What tests are done by health professionals to determine if individual has the disease? Sites: _________________________________ ____________________________________ Treatment : How is the disorder treated? ● Medications? ● Gene therapy? - how? ● Physical or other therapy Sites: _________________________________ ____________________________________ 4 Roman 2016 Geographical distribution ● Is it more common in a certain group of people? ● How common is it worldwide? In the US? ● How common is in the US? Sites: _________________________________ ____________________________________ Application of research article (present at least one aspect recommended below) ● ● Find a recent research article (5 years or less) related to this disease and present main points Find a research lab or other group investigating any aspect related to the disease and describe the type of research they are conducting Resource: ______________________________ _______________________________________ 5 Roman 2016 Genetics Disorder Slides Checklist Members: ______________________________ _______________________________ Genetic Disorder: ______________________________________________________________ Partner Slides to Make & Present in Given Order Title : Project Title, team members Definition : What happens to body; part of body affected Causes : What happens in body cells or tissues to cause disease; Type of mutation? Genetic tendency triggered by other factors? Name of gene. Name of protein. Function of protein, normal vs. defective. Genetics : Sex-linked-yes or no; particular chromosome; recessive or dominant? Diagnostic Tests : What tests are done; genetic counseling? Treatment : Medications? Gene therapy? Frequency in Population : More common in certain group; how common is it? Article Slide : Current research Bibliography Slide : At least four required. APA format. 6 Roman 2016 Rubric: Presentation Genetics Disorder Presentation Requirements (3 pts. for each bullet point) Introduction ● Title slide with name the disorder and presenters Definition of the disorder ● What happens to the body? ● What part of the body does it generally affect? ● List all of the possible effects on the body Causes of the disorder ● What happens to the cell that causes the disease? ● Contrast a normal (healthy cell) to disease cells or tissues ● Is it a mutation? Name the gene and protein encoded ● Contrast function of defective protein/organelle with normal function Genetics ● Is it sexlinked? ● Chromosomal location? ● Is it recessive or dominant? Diagnosis ● How is the disorder diagnosed? ● What tests are done? Treatment ● How is the disorder treated? ● Medications? ● Gene therapy? – How? Or Physical therapy? Demographics ● Is it more common in a certain group of people? ● How common is it worldwide? ● How common in US? Application of research article What current information did you learn from your research? (5 years or less) References ● At least four references provided ● APA format Possible Points Comments 12 12 9 6 9 9 5 6 7 Earned Points Roman 2016 Presentation Style ● Shows enthusiasm ● Visuals enhance the presentation ● Visuals explained/described well ● Text presented as bullet points (not sentences) ● Does not read text to audience ● Eye contact with audience ● Demonstrates knowledge ● Uses correct terminology ● Defines words and terms unfamiliar to audience Evaluation work ethic from peer and teacher Total Points 27 10 105 8 Roman 2016 Human Genetics Research Project Outline for write‐up Title of Project: ___________________________ By: _______________ and ________________ (authors) 1. Description of disease and symptoms 2. What causes __________ disease or syndrome? 3. Genetics of ___________________ 4. Demographics (frequency in populations) 5. Diagnostics and treatments 6. Current research (recent information, indicate year of publication) 7. Bibliography (minimum of four). APA style. NOTES: ‐ Make sure to use subtitles for every section. Proper spelling, good grammar, and good sentence flow is expected. Save your writeup as a google doc (in your google drive) to be able to collaborate with your partner When you are ready to turn it in, submit as a pdf document through Haiku (Turn it In) Submit a paper copy as well. 9 Roman 2016 Rubric: Written Report Human Genetics Research Project Names _____________________________ __________________________________ Title: _______________________________________ Topics Comments Score Description of disease and symptoms What causes the disease? Genetics ____/5 Demographics ____/5 Diagnostics and treatments ____/5 Current findings ____/5 Bibliography ____/5 Quality of writing Excellent organization, sentence structure, and grammar ____/5 ____/5 Good sentence flow, sentence structure, and grammar Organizational and grammatical problems 10 Poorly organized; grammatical and spelling errors detract from essay TOTAL SCORE ____/40 ____/5 Roman 2016 PEER REVIEW Your Name _____________________________________ Name of Partner _________________________________ Project title: ____________________________________________________ Personal Contribution (be specific): _________________________________________________________ ____________________________________________________________________________ ____________________________________________________________________________ ____________________________________________________________________________ Partner Contribution (be specific): __________________________________________________________ ____________________________________________________________________________ ____________________________________________________________________________ ____________________________________________________________________________ Please rate the following Criteria My partner used time effectively for the preparation of this project My partner helped me work hard to meet our objectives as listed on the project guidelines. My partner contributed equally to the project My partner completed his/her assigned work My partner listened to my ideas, and offered his/her own input. Strongly Agree 4 Agree 3 Somewhat agree 2 Somewha t disagree 1 Total Score: ___________ 11
