Talk:2011 Group Project 2

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--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


Hey sorry I missed the lab class today, im having some family troubles but will be back in sydney on the weekend. If somebody could let me know what happened etc I would really appreciate it. Are we still doing Duchennes or did another group choose it too?

Hello, I hope that you family gets better soon. So, we had to flip a coin with another group about Duchennes and unfortunately lost. We decided that we'll all think about what else we would find interesting until Sunday and post our suggestions here so that we can make a decision about it on Sunday or early this week. If I understand right, it would be the best if we find a disorder that is really caused during embryonic development. Hence Duchennes and Thalassamia for example are not the best ones any way. Have a good week end guys. --Anna Marx 18:51, 11 August 2011 (EST)

Thanks Anna, I will have a look at some now and see what I can find :) --Sarah Jenkins 15:20, 12 August 2011 (EST)

New Ideas

  • Conjoined twins. It results from abnormalities in the original process of cell division.

  • Spina Bifida is due to incomplete closing of the neural tube

  • Cri Du chat syndrome

  • Ectodermal dysplasia

Another Idea

Hi! I think there are so many interesting congenital diseases/abnormalities which we could choose. I have had a look around and I think that DiGeorge Syndrome would be a good topic! First, it is due to some abnormalities in the chromosome 22, hence there is a genetic component. Second, it occurs in 1 of 4000 people and there are lots of variations from person to person, hence there will be a lot of research and a lot of information that we can use. Third, a defect in the migration of neural crest cells is included, which means it happens during embryonic development. So, may be you can have a look into it and let me know what you think. Have a good week end, Anna --Anna Marx 15:03, 13 August 2011 (EST)

I had a quick look and this looks like a good one. I'm happy to do DiGeorge if everyone else is?? --Sarah Jenkins 10:40, 14 August 2011 (EST)

Ok, sounds good! What about the rest of the group? Do you guys like DiGeorge too? I am open for any other suggestion, however I would suggest, that we make our decision soon, so that we can start our research about it. So I'll open a little "Agree with you signature" box and wait what happens :) --Anna Marx 17:41, 14 August 2011 (EST)

DiGeorge Syndrome

If you like to make DiGeorge Syndrome to our team project, sign below.

--Anna Marx 17:43, 14 August 2011 (EST) --Sarah Jenkins 19:09, 15 August 2011 (EST) --Timothy Ellwood 09:30, 16 August 2011 (EST) --Leonard Tiong 00:21, 17 August 2011 (EST)

Project Plan

I think it is important to keep moving on with the project. We need to quickly agree on things and get the job done. From previous experience, getting the work done early is a benefit to everyone involved. The project needs to be broken down into subheadings. I have listed some below which need to be covered without doubt, and I am open to other ideas as well. If everyone could pick 2 that they are happy to take on it means that everyone will have a round about even job. I spoke to Anna Earlier and she said she was willing to do the drawings. Is that still ok? If so I think its fair that you only have to do one subheading of theory work.

  • Introduction (Sarah)
  • Historical background of the disease and its research (Sarah)
  • Epidemiology (Leonard)
  • Etiology (Tim)
  • Pathogenesis (Leonard)
  • Clinical manifestations (and explanations of these) (Anna)
  • Treatment options if available (Anna)
  • Diagnosis of the disease, pre and post natally (Sarah)
  • Further research possibilities (Tim)
  • Image (Anna)

I would prefer it if i could do the introduction, historical background and diagnosis. I am willing to do 3 because the introduction is a pretty easy one. If anyone has a problem with this let me know. I also think first in best dressed to picking topics. I only think its fair and if not, we can sort it out later. --Sarah Jenkins 19:09, 15 August 2011 (EST)

Hi, thank you for the layout. I think it is a good start! I an still happy to do the drawings. So let me know if you have specific wishes or if you have suggestions of what we/I need to draw. I can also do Clinical manifestations and treatment options, which would make it three as well. However I thought pathogenesis will be a big one because that would include all the genetics. May be it will be enough if one person on it's own. Otherwise etiology would go well with it, leaving epidemiology and further research for the last one;) Further research might be big too... However, I am open to adjust. --Anna Marx 21:03, 15 August 2011 (EST)

Hey guys, sorry I haven't been in touch, just been busy with some orchestra stuff outside of uni. The stuff so far sounds great, I'll get to work tomorrow getting some papers together and seeing what I can find out about the condition. I wouldn't mind doing the epidemiology and pathogenesis sections - Anna, I think he said we only had to submit one self-drawn picture but I wouldn't mind doing some either, since I draw everything for anatomy :D either way, let me know what you think! So far things sound really great, thanks for getting so much done and once again my apologies for not having chucked in my two cents earlier! --Leonard Tiong 23:02, 15 August 2011 (EST)

Awesome, now that we are on the way there it should be easier to focus our reading. We also need to do a glossary, and i think its easier if we do it as we go. so when we come across words that need a definition (to non science people) just chuck it in the glossary. even if we define it later, having it there is easier than having to go through and pick them out later. :) thanks for being so enthusiastic. :) --Sarah Jenkins 07:13, 16 August 2011 (EST)

Hey guys, sorry for the late addition, busy with various other things as I'm sure most of you are! Im happy to take the two headings that are left over. Also it looks like some of the other headings might contain alot more work than the two I've got, i think the further research one could potentially contain alot but unsure at this i would be happy to share another one and help out if anyone would like?? It was suggested above that Pathogenesis and etiology could go well together.... Let me know. Glossary sounds like a great idea!

Also i thought it would be a good idea if before the lab on Thursday if we could each try to find say 2 articles that relate to the heading we have selected.. Similar to what Dr Hill asked us to do for last week but now we have our topics etc. it should help to get us up and running. --Timothy Ellwood 09:29, 16 August 2011 (EST)

I have set up sections below for us to put any references we find. it makes it easy to find the ones we need, and if other people come across good references for a topic other than their own it allows us to share :)--Sarah Jenkins 15:22, 16 August 2011 (EST)

Hey tim, more then happy to switch doing etiology with you but I wouldn't mind doing both together either. We'd better tell Mark to change our title over to DiGeorge's syndrome, I'll get some papers up in the mean time but will be really busy until thursday! :(

Update - Hey guys, just found a rather general article on DiGeorge but thought it was interesting, will leave the link here, if you guys got a moment have a trawl through :) I don't know what I'm still doing up at this hour :\ I'll have a read of it tomorrow morning :) --Leonard Tiong 23:55, 16 August 2011 (EST)

Assuming that was Leonard above? I dont mind at all, maybe we can talk about it on thursday and sort something out. In the meantime i guess ill try find whatever articles I can on both topics.

Also just thought i would point out this resource [1], as it says that DiGeorge Syndrome (DGS) falls under the the title of 22q11.2 Deletion Syndrome, which apparently includes a number of other very similar disorders such as Velocardiofacial Syndrome, Conotruncal Anomoly Syndrome, Autosomal Dominant Opitz G/BBB Syndrome, Cayler Cardiofacial Syndrome and Shprintzen Syndrome. Not sure if we wanted to include these in our research, but worth considering I think as there could be alot more research under one of these titles and allow us for a broader and more accurate picture of the disorder as a whole.

--Timothy Ellwood 15:21, 17 August 2011 (EST)

Good work guys, our project has taken shape already. I have now changed our project title, hence we should be safe and good to go! See you tomorrow in the lab --Anna Marx 20:19, 17 August 2011 (EST)

Review Article

Hey guys, just found a review article that I thought was rather interesting, it's an animal model for Duchenne's muscular dystrophy[2]. I also found a primary journal article that discusses drug delivery for the condition [3]. I will print these articles for myself tonight and give them a quick read tomorrow and then paste a quick summary of the articles here just for you guys to consider :)

Review Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications.

Primary Detection of duchenne/becker muscular dystrophy carriers in a group of Iranian families by linkage analysis.

--Sarah Jenkins 10:00, 6 August 2011 (EST)

Primary Diagnosis and management of Duchenne muscular dystrophy in a developing country over a 10-year period.

Review Advances in Duchenne muscular dystrophy gene therapy.

--Anna Marx 12:52, 8 August 2011 (EST)

Duchennes Muscular dystrophy

--z3288827 21:53, 8 August 2011 (EST)

Review Article

Hey guys, just found a review article that I thought was rather interesting, it's an animal model for Duchenne's muscular dystrophy[4]. I also found a primary journal article that discusses drug delivery for the condition [5]. I will print these articles for myself tonight and give them a quick read tomorrow and then paste a quick summary of the articles here just for you guys to consider :)


[1] Nakamura A., Takeda S.; Mammalian Models of Duchenne Muscular Dystrophy: Pathological Characteristics and Therapeutic Applications, J. Biomedicine and Biotechnology Vol. 2011, Article ID 184393

[2] Yukihara et al; Effective Drug Delivery System for Duchenne Muscular Dystrophy Using Hybrid Liposomes Including Gentamicin along with Reduced Toxicity, J. Biol. Pharm. Bull, Volume 34, No. 5 pp. 712-716

Found References



DiGeorge Anomaly

Historical Background




A Genetic etiology for DiGeorge syndrome [6]

Inactivation of TGF􏰀 signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome [7]

A deletion in chromosome 22 can cause digeorge syndrome [8]

DiGeorge syndrome phenotype in mice mutant for the T-box gene [9]


[Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes]



Diagnostic Criteria


{ Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature.]



This looks like an excellent resource, listing over 100 research papers on nearly every aspect of DiGeorge from the 70's to present. [10]

Deciphering DiGeorge Syndrome: Big Advances In Understanding Microdeletions [11]


FISH carried out to detect DiGeorge syndrome. FISH is abbreviated as fluorescent in-situ hybridisation and is carried out to detect abnormalities whilst babies are still developing in the womb. --

FISH to detect DiGeorge syndrome[1]

Leonard Tiong 00:17, 17 August 2011 (EST)


Facial manifestations of patient with DiGeorge Syndrome

Facial manifestations of patient with DiGeorge Syndrome.jpg

--z3279511 21:18, 17 August 2011 (EST)

Reference List