Week6-7+PROJECT

Step THREE: Studying one disorder //Due: Wednesday February 22nd 2012//
 * Genetic Counseling Project**

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. //Strong Advice: 1) Converse with your partners on "Who does what". Note that a researcher is not the only one that does the 'leg work' and the reviewer is not just waiting for others.// // 2) Think of a way that you can prove to me that all group members are involved. //

For additional links, please look up http://kreiselmangenetics.wikispaces.com/Resources+-+Genetic+Disorders .

__Body functions:__ Cancers may occur, causing tumors to grow around blood-forming tissue(lukemia) - Rubinstein-Taybi is a dominant autosomal gene, though patients diagnosed tend to not grow to adulthood -Case: Jacobe Ryder, the 3-year-old son of Belinda and Alexander Ryder 9 (both showing no signs of Rubinstein-Taybi, as it is a mutation to the //EP300// gene), was born with an extra kidney and disformation of the facial area. At the age of 1, Jacobe started showing signs of advanced mental disorder and poor motor skills. At 2 years and 5 months, Jacobe was diagnosed with Lukemia. He expected to live to the age of 6.
 * A. The Patient: **
 * 1. ** __Symptoms__ Mild dwarfism, semi-severe intellectual disability, eye abnormality, heart and kidney defects, etc. __Prognosis:__ Infants diagnosed with Rubinstein-Taybi tend to only survive into early childhood.
 * 2. **__ How common is the disorder __ in the US? Rubinstein-Taybi is diagnosed to 1 out of 100,000 to 125,000 newborns.
 * 3. ** __Family context__ – Rubinstein-Taybi is not shown or expressed in many relatives, but it is a dominant gene when mutated, affecting 60% of offspring.
 * 4. ** Expression – Mutation to the //EP3OO// and //CREBBP// genes affect most of all offspring of the disordered person.
 * 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.

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?
 * E. Conclusion: **

For each item above – quote the website (or other) resource that you used. The way to quote is to write:
 * F. Bibliography ** :
 * 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”.

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 * Opening Page: **

Rubinstein-Taybi Syndrome Project written by: Guillermo H., Francisco F., Gisela G., Angeles R.

HONORS Biology B Dr. Michal Kreiselman

2012