Choose one of the genetic abnormalities or disorders that we have discussed in class this term, or find one of your own choice. Compose a 4-5 page essay about the disorder. (Most of this document should be written text.) Your paper will be in paragraph form, with little to no punctuation or grammatical errors. Be sure to include the following information.
1. Name of Disorder
o What is the scientific name of the disorder?
o Are there any other names for this disorder?
2. Transmission
• Specifically, how does an individual develop this disorder?
• Are the multiple methods of contracting the disorder, if applicable?
• Is this a congenital disorder?… Is the disorder X-linked (sex-linked)?… Are there any epigenetic factors contributing to this disorder?
3. Genetics Specifics
1. What is the OMIM number? Provide available OMIM entry information as an attachment or embed within the document.
2. Where on the chromosome does this occur? What is the loci of the mutation? What gene(s) is mutated or most affected?
3. Is there an example pedigree analysis available for this disorder?
4. Provide a karyotype chart for this disorder if one is available.
5. Provide any other relevant genetics information we have discussed in class
4. Diagnosis
• How does a doctor determine that someone has this disorder?
• What are some tests/evaluations that are used to diagnose a patient with this disorder and how are these test/evaluations performed?
4. Symptoms and Phenotypes of the disorder
• What are the problems that a person with this disorder will experience?
5. Progression of the disorder
• How does the disorder change with time?
• How is the body affected as the disorder continues? Be very specific.
• Is the disorder chronic or acute?
6. Prognosis
• What is the outcome of this disorder?
• Does it lead to any other disorder?
7. Treatment or Cures
• What are some medications, therapies or recommendations for a patient to treat this disorder?
• Is there a cure for the disorder?
8. Recent Innovational, Healthcare and Technological Advancements
• What are some current advancements at the forefront of medicine for understanding, diagnosing, treating or curing this disorder?
