Assignment:
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.