Talk:2011 Group Project 7

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Group 7: User:z3291622 | User:z3291643 | User:z3387190 | User:z3293267

Plagiarism

--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip


Where is the group discussion on topic selection? --Mark Hill 23:54, 7 August 2011 (EST)

Turner Syndrome

Hi guys, I think Turner Syndrome sounds really interesting. I've got a couple of links to check out, let me know how you guys feel about it. | Turner Syndrome | Optimising management in Turner syndrome: from infancy to adult transfer

--Eugene Chan 12:45, 5 August 2011 (EST)

Hey, Turner Syndrom is fine by me, seems like a good topic.

--Theodora Retzl 20:15, 9 August 2011 (EST)

  1. Estrogen requirements in girls with Turner syndrome
  1. How do you monitor the patient with Turner's syndrome in adulthood?

--Theodora Retzl 23:19, 10 August 2011 (EST)


Hey guys, since we haven't decided on a disorder yet, I thought I'll do my research on the Angelman Syndrome (the smiling syndrome) since it was one of our options anyway.

Research Article:

Greer, P., Hanayama, R., Bloodgood, B., Mardinly, A., Lipton, D., Flavell, S., & Greenber, M. (2010). The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc. Cell, 140(5), 704-716. doi:10.1016/j.cell.2010.01.026

The aim of this research paper is to find out how the Ube3A gene mutation causes cognitive impairment in individuals with Angelman Syndrome. The research is specifically looking into the role of Arc (synaptic protein) and AMPA (subtype of glutamate receptors). The experimental data suggests a relationship between the disruption of Ube3A activity and decrease in AMPA expression and how this can be utilised in the treatment of AS by using drugs that promote AMPA receptor expression.

Review Article:

Pelc, K., Cheron, G., & Dan, B. (2008). Behaviour and neuropsychiatric manifestations in Angelman Syndrome. Neuropsychiatric Disease and Treatment, 4(3), 577-584.

Angelman Syndrome is most often characterised by symptoms such as happiness, profuse smiling and poorly specific laughing. This review article sheds light on other less obvious but more debilitating features of Angelman Syndrome, such as areas of cognition, motor control, epilepsy, sleep etc. It also compares the effectiveness of behavioural management of the disease versus medication (e.g. neuroleptics or antidepressants). --z3291622 22:39, 10 August 2011 (EST)