Task3+-+Studying+one+genetic+disorder

Step THREE: Studying one disorder // Due: Friday February 11th 2011 // Now, that you had chosen one particular genetic disorder, you can study it in depth. In your research you need to find and summarize the following information. Please check the required format after the required content. ** A. The Patient:  ** ** 1.  ** __Symptoms__ – __Prognosis__ (life expectancy, age of onset), __body functions__ that are affected, what is a day like for such a patient? - Can an affected person physically have children? - Describe the symptoms as a story of __ a particular case __, with names. You can use real cases (if available on-line) or make up one. [] is a good place to start from. ** 2.  **__ How common is the disorder __ in the US? Are there any populations with a greater risk? ** 3.  ** __Family context__ – How does the disorder affect the family of the affected person? ** 4.  ** Expression – is the disorder always of the same severity, or varies in severity? ** B. Molecular, Biochemical Basis  ** : ** 5.  ** What is the affected gene – include its name, full and abbreviated, size of the gene (in nucleotides/base pairs), and location on the __chromosome__? ** 6.  ** What is the gene’s __protein product__ – What does this protein normally do? ** 7.  ** Something about the __mutation__ – a replacement of an amino acid? A deletion of the protein? Or other? ** 8.  ** __Pre-natal testing__ –If existing - what kind of test? Is the test accessible, reliable? ** C. Genetics:  ** ** 9.  ** Inheritance pattern – Autosomal or X-linked? Dominant or recessive? ** 10.  ** Accordingly, draw a real or made-up (but correct!) pedigree chart of a family with affected individuals. ** 11.  ** What are the chances that two carrier parents will have a child with the disorder? ** D. Treatments, support  ** : ** 12.  ** Any __treatments__ (or changing __life styles/habits__) for alleviating the symptoms? Are they affordable? ** 13.  ** Any supporting organizations? List organizations and their contact information.
 * Genetic Counseling Project **

** E. Conclusion:  ** Based on what you learned – would you be in favor of a genetic test for future parents, fetuses or for adults belonging to a high risk group? Support your statement after considering both options – - What would be the benefit of knowing about such a disorder in the family? - What would be the harm of knowing that such a disorder runs in the family, or maybe passed on to a future child? ** F. Bibliography  ** : For each item above – quote the website (or other) resource that you used. The way to quote is to write: ** Opening Page:  ** -    Name of Disorder Project written by: Names of students. HONORS Biology B     Dr. Michal Kreiselman 2011    -
 * the exact URL address (http://....) and
 * the title of this website. For example “Gene tests, Teaching cases”, or “Genetics Home Reference, National Institute of Health”.