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Genetic Disease/Disorder Learning Experience

Chris Embry Mohr Olympia High School

Spring 2007

American Environmental Photographs Collection, [AEP Image Number, AEP-ILP71], Department of Special Collections, University of Chicago Library.

The inheritance of a genetic disease is basically an unlucky draw from the gene pool of your ancestors. Some genetic diseases have symptoms which cause deformities, pain and death, and some have symptoms which are undetectable to the human eye. We as members of the human race should be compassionate to others. By learning about genetic diseases and inheritance and visualizing the life of those who have these diseases, we can better understand ourselves as humans and share that humanity with others.

Overview/ Materials/LOC Resources/Standards/ Procedures/Evaluation/Rubric/Handouts/Extension

Overview Back to Navigation Bar Objectives Students will:  research an assigned genetic disease or disorder  evaluate their sources for expertise, timeliness, accuracy, and balance  prepare a poster highlighting the most important information  present their topic to their classmates using the poster Recommended time 2 weeks frame Grade level 9th-11th Curriculum fit This project will allow students the opportunity to unite many aspects of genetics that we have discussed in class into one cohesive topic. Materials  markers  poster board, books  analysis forms  worksheet  computer  internet access Illinois State Learning Standards Back to Navigation Bar Language Arts. GOAL 5: Use the language arts to acquire, assess and communicate information.  5A. Locate, organize, and use information from various sources to answer questions, solve problems and communicate ideas. o 5.A.4b Design and present a project (e.g., research report, scientific study, career/higher education opportunities) using various formats from multiple sources.  5B. Analyze and evaluate information acquired from various sources. o 5.B.4a Choose and evaluate primary and secondary sources (print and non-print) for a variety of purposes. o 5.B.4b Use multiple sources and multiple formats; cite according to standard style manuals.  5C. Apply acquired information, concepts and ideas to communicate in a variety of formats. o 5.C.4b Produce oral presentations and written documents using supportive research and incorporating contemporary technology.

Science: GOAL 12: Understand the fundamental concepts, principles and interconnections of the life, physical and earth/space sciences.  12A. Know and apply concepts that explain how living things function, adapt and change. o 12..A.4a – Explain how genetic combinations produce visible effects and variations among physical features and cellular functions of organisms. GOAL 13: Understand the relationships among science, technology and society in historical and contemporary contexts.  13A. Know and apply the accepted practices of science. o 13.A.4d – Explain how peer review helps to assure the accurate use of data and improves the scientific process.  13B. Know and apply concepts that describe the interaction between science, technology and society. o 13.B.4e – Evaluate claims derived from purported scientific studies used in advertising and marketing strategies.

Procedures Back to Navigation Bar Guidelines - 1. At least five different sources must be used. Your textbook may be used as a source, but does not count as one of your five sources. Internet sources may be used, but at least two non-Internet sources must be used. All sources must be no older than four years unless given specific permission by Mrs. Mohr. 2. Complete a Photograph Analysis Worksheet for each picture that is used on the poster. Tape the worksheets to the back of the poster. 3. All direct quotes and paraphrases must be properly cited. See your Writers Inc. Book (MLA Documentation Style). 4. Plagiarism will result in receiving a zero on the assignment – see your Writer’s Inc. book for more information. All tables, pictures, or direct quotes must be appropriately cited. 5. A Works Cited slide(s) must be included. Examples are in your Writer’s Inc. book. 6. A 50% reduction will be taken on anything that is late. 7. Read over the grading rubric for a list of required topics to cover. 8. Suggested websites can be found on Mrs. Mohr’s website. 9. Extra credit could be earned by completing a crossword and giving it to the class after your presentation.

Timeline:  1 day on using the Library of Congress website and how to effectively search for information  4 days in the computer lab conducting research  Provide a paper copy to the teacher for feedback  2 more days in the computer lab conducting research and preparing for the poster  1 day assembling the poster  2 days for the “Museum Tour” of posters and presentations Evaluation Back to Navigation Bar The rubric will be used to evaluate the poster and the oral presentation to the class. Extension Back to Navigation Bar 1. Prepare a PowerPoint presentation on this topic. Use the rubric as a guideline. 2. Write a 3-5 page research paper on this topic. Use the rubric as a guideline. Primary Resources from the Library of Congress Back to Navigation Bar

Primary sources will include reference information, written stories, pictures, or sound recordings:

1. U.S. Library of Congress

2. National Institute of Health

3. Science.gov - click on Genetics Home Reference

Secondary Resources

1. Alphabetical Listing of Genetic Diseases and Disorders

2. Your Genes, Your Health

3. Human Genome Resources On the left side is a box titled “Find a Gene for” type in your disease/disorder and it will tell you the chromosome # and gene # - some will have hundreds and some may only have one

4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM in the “for” box type the name of the topic click go and under “Display” click “clinical synopsis” – this will give you brief overview or under “Display” click “detailed” for lots of information

5. U.S. National Library of Medicine this is an alphabetical list of diseases, etc.

6. Human Genome Project

7. University of Utah - Understanding Genetic Disorders

Rubric Back to Navigation Bar Genetics Research Project Name ______Block _____ 115 points Date ______Topic ______

Criteria Exceeds Standards Meets Standards Below Standards Needs Improvement Poster: (36 points) Appearance 3 – poster is neat, colorful, easy 2 – 1 criteria not met 1 – 2 or more criteria 0 – criteria are not met to read, font is large enough to not met see from a distance, size is appropriate Explanation of 2 – subtopic is thoroughly and 1 – explanation is vague 0 – no explanation given Topic appropriately explained or missing one or two key pieces of information

/2 * complete name of topic (common, scientific) /2 * general description of disease/disorder /2 * symptoms or signs /2 * age of diagnosis; life expectancy; how is it diagnosed /2 * how is this inherited; type of transmission (dominant, recessive, sex-linked, multiple alleles, mutation, etc.) /2 * which chromosome(s) and gene(s) can cause this disease/disorder /2 * who is at risk – geographical areas or populations more/less at risk /2 * prevention of the disease – prevention from developing self or passing to offspring /2 * treatment – medicines, how often, experimental procedures (make sure to get very current information) /2 * current types of research taking place in this field; what types of things are scientists working on /2 * describe an average day of someone with this; how does their life change; how is the life of their family affected /2 * include quotes or anecdotals from someone with this or a family member Pictures 6 – at least three pictures are 4 – one criteria is not met 1 – two or more criteria 0 – no pictures are included, Photograph Analysis are not met included worksheet completed for each picture and included on the back, pictures are easy to see and are appropriate to the topic, sources are appropriately cited under each picture Organization 3 – poster is very organized, 2 – poster is somewhat 1 – poster is very 0 – no evidence of very easy to read, a logical disorganized and lacks a disorganized organization is seen progression of ideas is evident progression of ideas Criteria Exceeds Standards Meets Standards Below Standards Needs Improvement Written Report: (49 points) Explanation of 3 – subtopic is thoroughly and 2 – explanation is vague 1 –gives little 0 – no explanation given Topic appropriately explained or missing one or two key explanation of the pieces of information subtopic

/3 * complete name of topic (common, scientific)

/3 * general description of disease/disorder

/3 * symptoms or signs

/3 * age of diagnosis; life expectancy; how is it diagnosed

/3 * how is this inherited; type of transmission (dominant, recessive, sex-linked, multiple alleles, mutation, etc.)

/3 * which chromosome(s) and gene(s) can cause this disease/disorder

/3 * who is at risk – geographical areas or populations more/less at risk

/3 * prevention of the disease – prevention from developing self or passing to offspring

/3 * treatment – medicines, how often, experimental procedures (make sure to get very current information)

/3 * Describe an average day of someone with this; how does their life change; how is the life of their family affected

/3 * Include quotes or anecdotals from someone with this or a family member

/3 * Most interesting/Least interesting about this topic

/3 * Current types of research taking place in this field; what types of things are scientists working on Source 10 – at least 5 sources are 7 – one or two 3 – less than 5 sources 0 – no sources are Evaluation evaluated - each source has requirements are not met are listed and/or evaluated included been thoroughly evaluated requirements are not according to the rubric met Written in No credit will be given for the project is any part of the report or poster contains plagiarized work (text or pictures). Student’s Own Words Criteria Exceeds Standards Meets Standards Below Standards Needs Improvement Presentation: (30 points) Explanation of 2 – topic is thoroughly and 1 – explanation is vague 0 – no explanation given Career appropriately explained or missing one or two key pieces of info.

/2 * complete name of topic (common, scientific) /2 * general description of disease/disorder /2 * symptoms or signs /2 * age of diagnosis; life expectancy; how is it diagnosed /2 * how is this inherited; type of transmission (dominant, recessive, sex-linked, multiple alleles, mutation, etc.) /2 * which chromosome(s) and gene(s) can cause this disease/disorder /2 * who is at risk – geographical areas or populations more/less at risk /2 * prevention of the disease – prevention from developing self or passing to offspring /2 * treatment – medicines, how often, experimental procedures (make sure to get very current information) /2 * Describe an average day of someone with this; how does their life change; how is the life of their family affected /2 * Current types of research taking place in this field; what types of things are scientists working on Organization 4 - Organization is well- 3 – establishes focus but 2 – establishes focus 1 – does not establish developed – establishes and inconsistently maintains it but does not maintain it focus; presentation is maintains a clear focus – details throughout – details are – details are minimal, random and unclear – are effective, vivid, explicit, and sophisticated and general, and details are random and/or pertinent – logical progression appropriate – has an undeveloped – has insufficient – has random of ideas – maintains fluency by inconsistent structure minimal structure with structure with no fluency using transition inconsistency in fluency present Voice, 4 – has few verbal errors – 3 – has few verbal errors, 1 – significant errors 0 – no presentation given Language and chooses words appropriate to poor eye contact, or has evidenced, style Body the topic and audience, speaks gestures that detract from detracts form message fluently; uses appealing vocal the presentation of presentation variety (rate, pitch, volume, pause); uses eye contact, posture, and gesture that enhances the message Time 0 – over 2 minutes Minus 8 points – 2 min. to No credit given for pres. if Requirement 1 min. 30 s under 1 min. 30 sec. Handouts Back to Navigation Bar

Genetics Research Project – Written Report

Name ______

Scientific Name - ______

Common Name - ______

Source Support – General Description # Source Support – Symptoms and/or Signs #

Source Support – Age of Diagnosis; Life Expectancy; How it is Diagnosed # Support - How is this Inherited; Type of Transmission (dominant, recessive, sex- Source linked, multiple alleles, mutation, etc.) # Source Support - Which chromosome(s) and gene(s) can cause this disease/disorder #

Support - Prevention of the Disease – prevention from developing self or passing Source to offspring # Support - Treatment – medicines, how often, experimental procedures (make sure Source to get very current information) #

Support - Current types of Research taking place in this field; what types of things Source are scientists working on # Support - Describe an average day of someone with this; how does their life Source change; how is the life of their family affected #

Support - include quotes or anecdotals from someone with this or a family member Source Staple at least two examples to the back of this packet – highlight or mark your # examples Source Evaluation:

Source #1 Title of Article: Author (Company and Individual): Web Address: Date of Publication: Date Found: Expertise: Highly Reliable 5 4 3 2 1 Modestly Reliable Date Score: 5 4 3 2 1 Accuracy: Highly Accurate 5 4 3 2 1 Mildly Accurate Balanced: Very Balanced 5 4 3 2 1 Very Balanced

Source #3 Title of Article: Author (Company and Individual): Web Address: Date of Publication: Date Found: Expertise: Highly Reliable 5 4 3 2 1 Modestly Reliable Date Score: 5 4 3 2 1 Accuracy: Highly Accurate 5 4 3 2 1 Mildly Accurate Balanced: Very Balanced 5 4 3 2 1 Very Balanced Source #4 Title of Article: Author (Company and Individual): Web Address: Date of Publication: Date Found: Expertise: Highly Reliable 5 4 3 2 1 Modestly Reliable Date Score: 5 4 3 2 1 Accuracy: Highly Accurate 5 4 3 2 1 Mildly Accurate Balanced: Very Balanced 5 4 3 2 1 Very Balanced

Expertise: look at author’s credentials; known or respected source; information is documented (sources are cited); is author contact information provided Date Score: 5 - less than one mo old; 4 - less than six mo old; 3 - less than one yr old; 2 - less than two yrs old; 1- less than four yrs old Accuracy: is the information documented (sources are cited); information is not in violation of copyright laws or is fabricated; information is not in contradiction with other sources Balanced: site is fair and objective; is there a conflict of interest; does the author/company stand to benefit from this information; is propaganda evident