Talk:2011 Group Project 4

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Group 4: User:z3389806 | User:z3290270 | User:z3290379 | User:z3290558


--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 Liz, I posted on the fb page regarding the genetics and pathogenesis part. The student drawn image I'm okay with doing yes. So far I was thinking about doing a picture showing the autosomal dominant nature of the gene. Basically a "tree diagram" of what happens when one parent is affected and the offspring has a 50% chance of inheriting HD. But I'm okay at drawing so if someone else has something better they'd like me to draw I'm okay with it. :) Girls please check fb, bit of a crisis.


--Maeda Sadeghpour 06:00, 14 September 2011 (EST)

hey girls, i think we really need to start hurrying things along with our project. Maedeh, i know you said that peer reviews arnt getting marked, but we need to have our project FINISHED by then because after that we are only making finishing touches based on teh peer reviews. Also, are you still doing the student drawn image? Ta

--Elizabeth Blanchard 12:41, 13 September 2011 (EST)

Genetics + Pathogenesis

Yea I think so, it would make it more relative. If anyone comes across any studies just post the link here or on fb. :)

--z3290270 23:36, 24 August 2011 (EST)

Hmm, are epidemiological studies on HD? If there is, we should add. It will make our webpage more comprehensive. And I don't mind doing that section.

--Nur Sharalyn Abdullah 20:24, 23 August 2011 (EST)

Girls, do you think we need an 'Epidemiology' heading??

--Elizabeth Blanchard 17:25, 23 August 2011 (EST)

Introduction + Clinical Manifestations.

--Lisa Lee 14:42, 23 August 2011 (EST)

Current + Future Research & Diagnostic Tests.

--Elizabeth Blanchard 09:30, 22 August 2011 (EST)

Sharalyn: History & treatment

--Nur Sharalyn Abdullah 20:15, 20 August 2011 (EST)

White blood cell populations from Huntington's Disease patients

White blood HD.gif

--z3290558 23:46, 17 August 2011 (EST)

Establishment of HD hybrid cell line

Establishment of HD hybrid cell line.jpg

(A) First polar body of mature rhesus macaque oocyte was removed by gentle squeezing through a slit of zona pellucida (A-a). Staining of 1st polar body DNA (arrowhead) and oocyte DNA (arrow) (A-b). HD monkey skin cell was placed under the zona pellucida (black arrow) (A-c). Reconstructed oocyte with HD monkey skin cell (A-d; yellow arrow) was placed between two electrodes for electrofusion (A-d). (B) Day 12 hatching blastocyst derived from HD monkey hybrid embryo (B-a; arrow indicated ICM). HD monkey hybrid blastocyst outgrowth at six days after attached onto feeder cells (B-b). High magnification of selected region (inset) of the ICM outgrowth (arrowhead). HD monkey hybrid cell line (TrES1) at passage 10 (B-c). (C) G-banding analysis of TrES1. Cytogenetic analysis of TrES1 demonstrated tetraploid chromosome (84; XXXY). (D) Expression of ES-cell specific markers: Alkaline phosphatase, Oct4, SSEA4 and TRA-1-60.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

--Maeda Sadeghpour 21:30, 17 August 2011 (EST)

Large stem cell-derived neurospheres were generated from 33-week old HD hippocampus, but not WT hippocampus.

Stem cells neurospheres drived from Huntingtons Disease hippocampus.png

--Elizabeth Blanchard 15:06, 16 August 2011 (EST)

Melatonin levels in Huntington's disease patients and controls

Melatonin levels in HD patients and controls.jpg

The diurnal melatonin rise was significantly delayed in HD patients by about 01:30 h (p = 0.048). The black bar on the abscissa indicates the dark period (23:00–7:30 h).

--Nur Sharalyn Abdullah 12:21, 16 August 2011 (EST)

We decided on Huntington's Disease, I believe Nur spoke to you at the end of the class. :)

--Maeda Sadeghpour 16:44, 13 August 2011 (EST)

--Mark Hill 18:28, 11 August 2011 (EST) Your group left the lab today without notifying me of your selected group topic.

Group 4 Topic: Neural Tube Defect

Research Article:

Conway S.J., Gosnell M., Rogers R., Simmons O., Snider P., Young R. (2011), Notochordal and foregut abnormalities correlate with elevated neural crest apoptosis in Patch embryos. Birth Defects Research Part A: Clinical and Molecular Teratology. doi: 10.1002/bdra.20802. Epub 2011 May 6.

Review Article:

Abdel-Hamed Z., Johnson C.A., Logan C.V. (2011), Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Molecular Neurobiology

--z3290558 02:07, 11 August 2011 (EST)

Neural Tube Defects

Review: Padmanabhan, R. (2006). Etiology, pathogenesis and prevention of neural tube defects. Congenital Anomalies, 46(2), 55-67.

Research: Joó, J. G., Beke, A., Papp, C., Tóth-Pál, E., Csaba, A., Szigeti, Z., Papp, Z. (2007). Neural tube defects in the sample of genetic counselling. Prenatal Diagnosis, 27(10), 912-21.

--z3290270 02:34, 11 August 2011 (EST)

Review: Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin Pediatr Neurol. 2009 Sep;16(3):101-10 [1]

Research: De Marco P, Merello E, Cama A, Kibar Z, Capra V. Human neural tube defects: Genetic causes and prevention. Biofactors. 2011 Jun 14.[2]

--Nur Sharalyn Abdullah 14:24, 10 August 2011 (EST)

We are doing on neural tube defects!

--Nur Sharalyn Abdullah 13:47, 10 August 2011 (EST)

Neural Tube Defects

Article: [1] Review: [2]


  1. <pubmed>19120526</pubmed>
  2. <pubmed>18182339</pubmed>

--Elizabeth Blanchard 22:25, 9 August 2011 (EST)

Hi girls (: I actually managed to find some genetics-related articles on neural tube defects. It has something to do with folate and folate-related genes from what I have read so far. So how about it? Shall our website be based on neural tube defects? (:

--Nur Sharalyn Abdullah 08:12, 9 August 2011 (EST)

Hey girls,

So I've done a bit of research on a few of them. One of the things we need to keep in mind is that it has to relate to the learning outcomes, which I think is the embryological process, and how the genetic disorder relates to it or how its affected by it? (I tried looking it up but couldnt find it).

Here's a list of the topics I've been looking into:

Turner Syndrome: commonly known to have one missing sex chromosome, (or both) - LOTS of info on this. (only thing is, because its such a broad topic, we might have articles that contradict each other, or might not have that many embryology related new articles...?)

Klinefelter's Syndrome: the gigantic disease with the extra chromosome (XXY). there's a decent amount of info on this, but not as much as Turner.

Neural Tube defects: problems happening in the first month of baby formation because of the folate deficiency in the mother. But i'm not too sure where the genetics come into this..

Which topics have you guys been looking at? Let us know! cos we need to have some articles in 2-3days time! :)

Ye it's better to research an area instead of just one disease then, because that will give us more to talk about... especially the genetic components which Mark commented on. So I was thinking Neural Tube Defects instead. That will give us Anencephaly, Encephaloceles, Hydranencephaly, Iniencephaly and Spina bifida. ?--Maeda Sadeghpour 01:09, 8 August 2011 (EST)

You need to think about what the genetic component will be for the disease you select. --Mark Hill 23:51, 7 August 2011 (EST)

I don't think that having 4 categories will be a problem. I actually think that it will be good to have extra stuff to talk about. Have a look at the other pages from previous years, they are very elaborated so I think it's actually a good thing to have alot of things to talk about. But anyway lets decide on something so that we can post up our articles

--Elizabeth Blanchard 22:00, 7 August 2011 (EST)

Hey! I get what you mean, Maeda. Doing 4 categories can be quite heavy. Hmm, but I was thinking, since this is going to be a wikipage and the elaboration for the 'original' wikipage for spina bifida is not very deep for the 4 categories, maybe we could leverage on this weakness and make ours more detailed? :) But if you guys think it is too much, I don't mind doing the other suggestions too! Anyway, this is just a preliminary decision. It depends on the topics that other groups have chosen too. Would it be possible for us to finalise the topic by tomorrow?

--Nur Sharalyn Abdullah 17:18, 7 August 2011 (EST)

Hello people. I was basically trying to see which diseases had the most current information available online, and cystic fibrosis seems to be very well known. Spina Bifida is very interesting as well, my only concern with it is the 4 categories it's divided into, which I thought might make it a bit more work. What do you guys think? :)

--Maeda Sadeghpour 00:25, 6 August 2011 (EST)

Hey, girls! I'm thinking of spina bifida and hydrocephalus. Cheers!

--Nur Sharalyn Abdullah 20:26, 5 August 2011 (EST)

hey guys, had a quick look and Spina bifida and Turner's Syndrome both seem to have a decent amount of information on them

--Elizabeth Blanchard 14:26, 5 August 2011 (EST)

Peer Assessments

  • Interesting but good use of a quote
  • The introductory paragraph for the “history” section could probably be cut down or eliminated altogether
  • Great inclusion of statistics in regards to epidemiology
  • Student images were excellent, well drawn and were engaging
  • Pathogenesis section could have been placed in a table just to change up the formatting
  • The video inclusion was good and relevant
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.

--Ashleigh Pontifex 15:24, 22 September 2011 (EST)