Assignment:
Choose the name of a specific human genetic disorder from the list provided to you. Your task is to
1. Research information and personal testimonies to learn about your assigned genetic disorder
2. Create a Google Slides presentation to organize and present your researched information
Your presentation must include the following information:
1) Your name and the name of the disorder
2) What is this disorder?
? What are the characteristics and symptoms?
3) What causes this disorder?
? What is the genetic cause?
? Chromosome mutation: include the type of mutation (deletion, trisomy, monosomy, etc.), chromosome number, and a picture of the karyotype showing the mutation.
? Gene mutation: include the gene affected, how the gene is changed, and what the protein the gene codes for does (relate back to the symptoms if applicable).
? How is it inherited?
? Spontaneous mutation?
? Autosomal or sex-linked?
? Recessive, dominant, etc.
4) How common is this disorder?
? Incidence: What portion of human population is affected by disorder?
? Prevalence: Is any particular segment of the population at greater risk (gender, ethnicity, etc.)? Why?
5) How is the disorder diagnosed?
? Why would someone get tested for this disorder?
? When is it tested for (prenatal, infancy, adult)?
? How is it tested for? What tests are used and what does the test show or look for?
6) What treatments are available for this disorder and its symptoms?
? Medications, procedures, therapies, support?
7) What is the prognosis?
? What is the life expectancy for individuals with this disorder?
? What current research is being done to develop a cure? Give a brief summary of who, where and what.
Your presentation must be of professional quality.
? Each slide must have short, bulleted text ( if you are completing the extra credit you will explain the information through your video commentary).
? Each slide must have graphics and pictures that are appropriate and support the information.
? Each slide must show creative effort with the use of backgrounds, fonts, and colors (be careful of the fonts and colors you choose, you want to make sure it can be read easily).
Your presentation must show proper digital citizenship.
? You may NOT use Wikipedia, other wiki or answer sites, or dictionary.com as a source for text, but may use them for pictures.