Difference between revisions of "Talk:2011 Group Project 8"

From Embryology
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==Collated Peer Review==
==Collated Peer Review==
I do have another picture for that section but it needs to be fixed up - i tried fiddling around with contrast/lightness but it didn't get me anywhere. If you could fix it up it'll help heaps! [[File:Heart disection.jpg|thumb]]
I think we should do our own sections I think it would easier.
I think we should do our own sections I think it would easier.
Also amanda i think we need another pic in pathology since we have linked the sections it looks a little text heavy are there any cardio pic we could add in??
Also amanda i think we need another pic in pathology since we have linked the sections it looks a little text heavy are there any cardio pic we could add in??

Revision as of 18:59, 3 October 2011

Group 8: User:z3294943 | User:z3389343 | User:z3329495 | User:z3332250


--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

Page Edits 30 Sep

Collated Peer Review

I do have another picture for that section but it needs to be fixed up - i tried fiddling around with contrast/lightness but it didn't get me anywhere. If you could fix it up it'll help heaps!

Heart disection.jpg

I think we should do our own sections I think it would easier. Also amanda i think we need another pic in pathology since we have linked the sections it looks a little text heavy are there any cardio pic we could add in?? z3294943

Hey, i agree with connecting just the first word that appears to be linked to the glossary. Otherwise we'll take forever to link them all up. and ref 49 might not be appearing due to some issues with the program? maybe ask Mark. I've also emailed him about using screen grabs in the diagnosis table but he hasn't replied yet :( Also is one person linking up the words or are we each linking the words up in our section?

Hey guys, with connecting the words to the glossary i think we should just do it when the word first appears. let me know what you think! Also does anyone know how to fix ref 49?? i tried re referencing it but it didn't work??? :( z3294943


  • Positive: Impressive and to the point. Gives good overview of topic.
  • To fix: Image reference is not in correct format.


  • Positive: Many references which is good to see. Good format of timeline
  • To fix: Maybe more info in timeline, Timeline could be better suited into a table.Possibly make image above slightly smaller so that it does not drag into this section.


  • Positive: This section is impressive. Looks like much research has gone into this section.
  • To fix: I think you should put the headings on a separate line above the information and add some pictures. Expand on 'Distribution,' 'Populations,' and 'Gender


  • Positive: I can see a lot of effort in there from content to the drawn images. This section is impressive! It is very detailed. Good balance of images and text. Neuropathology is a well researched section, great formatting and very well structure paragraphs, great work. Really good content, and nice flow. Very applicable to the audience.
  • To fix: A description of the image "Cross section of the spiral cord" would be good. Great self-drawn images, however could you possibly further describe what the images are depicting. Connect neuropathology and pathology

Peer Review

Group 8 Review

  • Introduction – some sentences need commas, just check this. Otherwise excellent intro.
  • History – the timeline in a table has looked good in other project pages, I suggest you use this too as it will just break it up nicely and add some colour. Especially with the Epidemiology being in a very similar format below, it will just help to differentiate and make it super clear between the sections.
  • Epidemiology – the wheelchair age, do you mean, by 45, 95% of people are wheelchair bound? What is the most common age? Just need to make this point clear.
  • Pathogenesis – is there any other things to talk about other than cardiomyopathy? Or is ‘Neuropathology’ meant to just be a subheading, not a title? Make sure all technical terms in the neuropathology section are defined, as neuro can be confusing and complicated.
  • Need a description of the spinal cord cross section, try and link it in to what is written in the text
  • Symptoms paragraph – can you divide this up into 2 paras if poss? Just looks like a big slab of text and therefore is hard to read, especially as the writing as been smushed up from the pictures.
  • Diagnostic table – don’t forget to complete the last column! Try and have a bit more space between it and the Prenatal diagnosis section below it, would look better.
  • Current research – would look better if you described the findings of the paper and made the title of the paper in bold – some other groups have done this really well.
  • Otherwise, good project!

--z3332824 14:49, 29 September 2011 (EST)

Group 8: Incredible work on the page. A balance between the text and images is greatly seen. The size of the image between history and introduction is quite big. Minimize it and place it in the right section. Epidemiology can be transferred into a column chart to see which one is more prevalent. Images in the Aetiology section are phenomenal but you want to make the drawings darker? Since they appear to be fading. Neuropathy section is spectacular. I can see a lot of effort in there from content to the drawn images. And I liked how in the table of diagnosis, the use of external links to deliver the information better. Finally, one of the references need to be reformatted as it refers to nothing (49) and the Gloassary could be shifted to be above the reference list. --z3284061 11:52, 29 September 2011 (EST)

Peer Assessment

  • Overall the project is very good
  • Maybe more info in timeline
  • A description of the image "Cross section of the spiral cord" would be good
  • Good balance of text/image/tables
  • No dates are mentioned in the current research
  • Good use of student image

--z3292953 11:06, 29 September 2011 (EST)

Friedreich’s Ataxia (Group 8) Peer Review:

Why is there a massive gap at the beginning?

Introduction: Impressive and to the point. Gives good overview of topic. Image reference is not in correct format.

History: Possibly make image above slightly smaller so that it does not drag into this section. Many references which is good to see. Good format of timeline.

Epidemiology: This section is impressive. Looks like much research has gone into this section.

Aetiology: Extensive information which is good. Could you make the self-drawn images a bit darker? Last image lacks student template. Good use of subheadings to organize information.

Pathogenesis: This section is good, however if possible it could be further elaborated. Image in this section is very nice, although is lacking a student template.

Neuropathology: This section is impressive! It is very detailed. Good balance of images and text. Great self-drawn images, however could you possibly further describe what the images are depicting? Otherwise, well done.

Clinical Presentation: Content is good. Images could be spaced out a bit more.

Diagnosis: This section is also impressive. Very detailed and great use of tables. Could you add more images into the relevant sections of the table?

Treatment: Information is good, however at the moment it looks like a slab of information. Possibly balance it out with some images.

Current Research: Many references which is good. Once again, an image would be good.

Glossary and references are good, however place the glossary before the references.

Overall, good job! --z3290808 10:48, 29 September 2011 (EST)

Friedrich’s Ataxia – Group 8

  • Introduction well written. Good use of image and referenced well.
  • Timeline looks good. Is it a little short? Maybe there are some more events that you could include. The use of a table here could be good to summarize the timeline and center it.
  • Epidemiology seems to cover all the information required. I thought an image in this section could look nice.
  • Aetiology is highly detailed and well written. Subheadings help to give it more flow, but it is still very text heavy. Is there a way to incorporate a table or perhaps some dot points under some of these headings to make it a little more concise?
  • I thought pathogenesis was wall written, however not much is mentioned on the pathophysiology of the syndrome. This could be elaborated on and more detail given about the development. Good image in this section.
  • Neuropathology is very well written with excellent use of images. I though maybe a review of the formatting could improve this section just to give it a little more flow. Good use of dot points in this section.
  • Clinical presentation and diagnosis look excellent.
  • Treatment section is very text heavy, this could be improved with the use of an image and maybe a table to summarize the info.
  • Current research is a good start. Not much elaboration as to what this current research actually achieves though. I thought that a mention of future research prospects could improve this section
  • Glossary looks great and reasonably complete.
  • Overall this was a very good project. Just some improvements in formatting, inclusion of a few more images and work on the overall consistency of writing (i.e detailed in some sections, and a lot less in others) would improve it I think.

--Z3288196 10:46, 29 September 2011 (EST)

Group 8:

Glossary is extremely long probably because the words are supposed to be explained in the text. The text is very heavy and the no. of pics drops off towards the end and gets gradually less attractive. Even though there are a few pictures at the top, they are very small and hard to see.

Its very long and that reflects the amount of effort and reading done. Summarise a little more? Cut down and make it specific.

Current research seems a little patchy and incomplete. Was the dot points on purpose?

z3332178 =]

Peer Assessment

  • Introduction and History: well written. Maybe place the image in the history section rather than in introduction. The timeline should be expanded a little. It might be a good idea to include more information on other key events in the paragraph above the timeline which at the moment only includes information about Friedreich.
  • Need to summarize the information in etiology section more. It's very text heavy and difficult to follow. Strongly suggest the student drawn images in this section be redrawn using word, power point or paint.
  • Hyperlink words to the glossary. Makes it much more user friendly.
  • Pathogenesis: well written. Not sure if neuropathology needs to be a different section from pathology.
  • Other sections; good job! Good use of tables and images to present the information.
  • Try to incorporate a table in the treatment section. Looks a bit mundane compared to the other sections.
  • The double spacing in the 'current research' section looks awkward. Need to fix the layout of this section.
  • Overall, good job!

--Z3291622 10:28, 29 September 2011 (EST)

Peer Review

This wiki looks like a lot of time and effort has been invested into the project and very nicely done. There is an abundance of referencing and loads of info given that this was one of the lowest reference item found in BioMed website. You've also used the correct referencing programming so it doesn't repeat. Bravo!

  • It is a marathon to get passed all of this. It is text heavy, though it is hard to deny that all info is relevant.
  • Aetiology's images aren't done too well. It hasn't translated as well when viewing it from the wiki as it is very faded and overall feels rushed in making. Use Paint is my recommendation.
  • Timeline could be better suited into a table.
  • All student drawn images aren't referenced properly. Just missing the disclaimer and the inspiration from info.
  • The first dot point of The Spinocerebellar Tract seems out of place, don't quote. Hypotonia's dot point in explaining the definition is longer than the glossary definition.

--z3293267 10:03, 29 September 2011 (EST)

  • intro: maybe move the image into the history section
  • history: perhaps putting it into a timeline would look better.
  • research: could have briefly summarised a bit of what the articles were about
  • student drawn image had no reference and is a little light on colour.
  • external links were great

--z3290558 10:00, 29 September 2011 (EST)

Peer Review

Some places for improvement.

  • Double spacing of paragraphs looks awkward.
  • History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow. Could also be expanded.
  • In the epidemiology section the subheadings do not present the information in the best way possible. It makes it look like there is a lack of research into this area. Perhaps combining into paragraphs, or adding more information to each subheading.
  • The pathogenesis section needs some additional information.
  • Further explanation of terms in the symptoms section is needed as the web page is aimed at those that may not have a clinical knowledge.
  • Research could be summarised and papers talked about rather than just listing papers of current research.
  • Glossary is extensive but would be more appropriate following the information on the page rather than after the references as it gets forgotten about.
  • References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed.

--z3217043 09:51, 29 September 2011 (EST)

Group 8 Peer Review

  • The headings are well chosen and ordered
  • Epidemiology-well done
  • Student drawings need to be more defined
  • The gene expression image could be larger
  • All the images are on the right side of the page-you could reformat a little to make it a bit more interesting
  • Little confusing between main headings and subheadings under aetiology-just an issue of font size or bolding
  • External links-really good
  • Glossary was great however could be placed before referencing-at first wasn’t sure if it was present as it was at the end
  • Well referenced

--Fleur McGregor 09:34, 29 September 2011 (EST)

Group 8

  • Great intro, very succinct, and great history. Timeline could be formatted into a table, if you want, doesn’t really matter. Information is well referenced.
  • Aetiology – image is difficult to see, maybe use a black marker or felt tip. Bold text corresponds with glossary which is great, maybe you could go a step further and link the words to the glossary. Evidence of extensive research, gooooood job.
  • Neuropathology is a well researched section, great formatting and very well structure paragraphs, great work.
  • Table under ‘Clinical Presentation’ could have clearer borders, along with the table under ‘Diagnostic Tools’ and ‘Postnatal Diagnosis’
  • Great work on the glossary, really extensive and most terms are included

--z3331469 08:12, 29 September 2011 (EST)

GROUP 8: Friedreich’s Ataxia

  • Contenets section not visible
  • Info in both intro and history is very cohesive and informative, however, i feel the timeline could use a bit more work, there's large gaps in between dates (did anything happen in between these dates?) also it would be good if it also included fairly recent advances
  • Epidemiology has been sectioned well, info is informative, however, it could be better if it was in the form of a table
  • The chromosome image is a little faded and not really easy to see, could you maybe fix this so it's clearer
  • Aetiology has been researched well, subheadings are suitable and fit in well, good balance of text and images, info is detailed and understandable, however, some sections could use more referencing (Genetic Instability & Inheritance particularly)
  • Again the pedigree student drawn image could be a little more clearer
  • The Gene expression responses of Friedreich's ataxia image needs to be referenced properly and student template should be added
  • Pathogenesis image could use a more informative legend
  • Pathogenesis has concise and understandable info, the subheading Cardiomyopathy could be also included in glossary as some may not know what this is
  • some words in Neuropathology need explaining in the glossary e.g. neuropathological, dorsal nuclei of Clarke, Schwann cells, oligodendrocyte etc.)
  • A better description of the spinal cord image is needed
  • Neuropathology has been research extensively and info is very informative and well explained, however, more referencing may be needed
  • some of the info at the beginning of Clinical Presentation could be better as part of the history section
  • Table in this section could be defined a little more with boundaries to differentiate one section form another
  • Current research could be expanded on more by explaining the findings not just lists and links


  • very good structuring of headings and subheadings
  • Glossary seems fine, words could be linked to the glossary as an improvement so the reader doesn't have to be scrolling down, some words could use more explaining (e.g. DRG, CNS etc.)
  • Student drawn images could be clearer and some images need to be referenced properly
  • good use of external links
  • tables could be formatted better (better defined boundaries)
  • good balance between text and images throughout most of page

--z3331556 07:39, 29 September 2011 (EST)

Group 8 Peer Review

• Good overall layout and effective sub-heading structure. Your images are really useful, however I feel there is a lot more text than there is images.

• Introduction and history are really good! It’s a good opening to the page, and very interesting abnormality. Obviously, well researched. Could the timeline be expanded?

• Epidemiology is also really good, however the addition of a table or graph could really compliment this information.

• Aetiology has good content, and I like how you’ve emphasised important terms by highlighting them. This would look better if it was consistent throughout the entire page.

• Pathogenesis is a good start, but I think it needs more detail. Really good diagram though!

• Neuropathology has been done really well! Really good content, and nice flow. Very applicable to the audience.

• I like the use of the table in the diagnostics section. (Nice consistency of the colour of tables).

• Current research could maybe be broken down into headings and then brief summaries of each paper under each heading.

• Nice range of external links! Could they be incorporated into their relevant subheadings?

--z3289829 02:46, 29 September 2011 (EST)

  • Introduction: Good introduction, gives an overall image. Quite like the image.

History: I don’t think history of the guy who found it is that necessary, perhaps just focus on the disease itself. Only 5 events in timeline? Surely there’s more after 1996.

  • Epidemiology:

Love the subheadings and the straight-to-the-point approach instead of writing paragraphs describing something that could be said in one dot point. The content is exactly what the epidemiology should cover.

  • Aetiology: image is unclear and looks like it was done in a rush. Where’s the referencing? hThe information is very informative however and quite good use of subheadings, but it would be improved by bolding a few of the significant words.“Friedreich's Ataxia Pedigree.jpg” not referenced correctly.
  • Pathogenesis: Love the image, very clear and concise.
  • Neuropathology: VERY detailed and word-heavy. It shows you’ve done the research but it’s too much to read and become boring after a certain point. You can summarise some of the sections quite easily.
  • Clinical: Great content, and fantastic use of subheadings.
  • Diagnosis: fantastic formatting for the tables.
  • Treatments: Need an image of some sort here, but the information is very relative.
  • Glossary: Needs to be placed before the reference list.
  • References: Looks good, couldn’t find any mistakes.
  • Image/Text ratio: Some parts the text is too long and need a picture to break it up and in others it just plain needs an image to make it interesting,a s mentioned above.

--z3290270 02:24, 29 September 2011 (EST)

Peer Review

  • Good balance between text and pictures; inclusion of self-drawn pictures is noted.
  • The Introduction gives a very good broad overview of the topic, properly referenced, without impinging on the information presented later.
  • The History presented is made relevant to the understanding and treatment of the disease.
  • Appropriate subheadings are used in the Epidemiology section and the text is succinct, makes things more understandable. Well referenced. Similar story with Aetiology - the inclusion of pictures works well, as each is fairly relevant.
  • To be honest, it's really just good overall. There's nothing that needs fixing, in my view....

--z3290689 02:09, 29 September 2011 (EST)

Group 8: Friedreich’s Ataxia

  • Overall: Well done on headings/sub headings and consistent formatting. Well balanced in terms of text and imagery.
  • Introduction: brief, concise and captivating. Good start to the webpage.
  • History: I like the addition of a timeline – always a nice touch to summarise history of disease
  • Aetiology: Well done with those hand drawings, but definitely need to be darker
  • Neuropathology: evidently a well researched and presented section. Referencing is good and reinforces reliability of information provided. Well done
  • Diagnosis: good use of table, but some sections are too wordy
  • Current Research: well referenced but the bullet points make the section look incomplete. Consider using paragraphs or adding more information.

--z3332327 01:21, 29 September 2011 (EST)

Peer review of group 8:

  • Introduction is good, short and succinct.
  • the timeline in history could be in a table to make it stand out a bit more and break up the text.
  • how about subheadings be used instead of bolded words
  • no copyright statement on both drawn images
  • pathogenesis could be very heavily expanded, this is the biggest part of your project so spend some more time on it.
  • no copyright notice on the student drawn image in neuropathology.
  • how about a table or dot points for clinical presentation to make it more easier to read.
  • email copyright assurances from the video owners to embed into your table for diagnosis?
  • elaborate a bit upon the current research section to give an image of what is happening now!
  • multiple references present.

--Jasjit Walia 23:56, 28 September 2011 (EST)

Peer Review for Group 8

  • Nice picture of Friedrich which is found in a good introduction to the disease.
  • Timeline seems short, try to expand on it as there is a massive time gap from 1907 to 1988
  • I like the way you separated your info under epidemiology into sections which makes it easier to read. Also isn’t there any graph you may be able to show in this section?
  • Hand drawn image of the chromosome needs to be referenced properly in accordance to student author referencing as outlined in editing basics.
  • Information in the inheritance section under aetiology has no referencing to it, please insert it if its missing.
  • In the pathogenesis a link to the word Neuropathology should be made so it can show the reader where it is.
  • Under Neuropathology the image of the spinal cord cross section should have a description added to it so it can explain to readers the importance of this image.
  • In the middle of the section under Dorsal Root Ganglia, a definition of a Schwann cell was given. You can remove this and instead added it to the glossary as this sentence disrupts the flow of the paragraph.
  • First paragraph under spinocerebellar tract has to references to the information.
  • Under each section for the neuropathology, you give a description, then the abnormality found in the ataxia. If you put little subheadings such as ‘description’ and ‘abnormality in F.ataxia’ it will organize your page much better.
  • in the symptoms section, put a hyperlink to the word ‘diagnosis’ as it will direct the reader to that section on the page.
  • Bullet points should be used for the info in the table under the symptoms section
  • Under complications, I don’t think reactive oxygen species needs capital letters.
  • table used under the Diagnostic tools section is well constructed and informative, well done.
  • current research section could be improved by providing dates and descriptions of each bullet point. It will provide the reader a good image on the type of current research that is occurring for this ataxia.
  • referencing is good, well done.
  • External links section is good, maybe expand It a little bit more as it would look better.
  • Glossary is well done, and I like the way you highlighted words in your page that have their definitions in the glossary.

--Z3291317 23:51, 28 September 2011 (EST)

Group 8 Hey, well done, your page is looking really polished! Lots of very interesting information here and presented in a very easy to follow manner

  1. The key points relating to the topic that your group allocated are clearly described.
    • History: I feel that you could lessen the info of Nicholas and add more current findings of the disease.
    • Aetiology: What is the chromosome 9 image based on? Need to work on referencing. Very good subheadings and well balanced with images
    • Pathogenesis: Needs more information
    • Neuro: What's the images based on? Good subheadings and explained well. I liked the way you gave explanations for normal function/appearance and then went on to explain abnormality associated with the structures in this disease. But you need to improve your referencing for this section
    • Diagnosis: Very good table and images. But need to fix the postnal diagnosis table so that it spans the length of the screen
    • Symptoms: table and images look too crowded
  2. The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.
    • good subheadings, images, impressive self drawn images! Nice balanced page layout
  3. Content is correctly cited and referenced.
    • needs to work on referencing
  4. The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.
  5. Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.
    • research done is evident, just need to reference
  6. Relates the topic and content of the Wiki entry to learning aims of embryology.
  7. Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki.
  8. Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement.
  9. The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning.
  10. Develops and edits the wiki entries in accordance with the above guidelines

"What would improve this project...."

  • referencing
  • better arrangement of table and images so page doesn't look too crowded

Well done guys, nice team work! --z3291643 23:48, 28 September 2011 (EST)

Group 8

History: Timeline could be more detailed.

Epidemiology: I think you should put the headings on a separate line above the information and add some pictures.

Aetiology: This section is very detailed but the pictures are difficult to see. They need to be bigger but some of the hand drawn ones need darker text and more detailed captions.

Pathogenesis: Great diagrams. Looks really good with lots of pictures. Well explained. The diagrams could be a bit bigger though.

Symptoms and diagnosis: Good information but could be organised more neatly. The table looks like it has a lot of text and not enough pictures.

Treatment: needs some pictures to balance out the text

Current research: This section needs more detail. It would be better in paragraphs not dot points.

--z3291324 23:25, 28 September 2011 (EST) Group 8:

•Good job on the introduction and history, concise and easy to read. Also the image here is also good to break up the text.

•The timeline seems a little short however, is there anything else you can add after 1996?

•Make sure that all of the student drawn images have the correct copyright information. You need to make sure you have the correct template in the information for all of these images.

•I like the fact that you have bolded some of the words included in the reference but this isn’t consistent throughout all sections. This needs to be completed for all sections and all terms included in the glossary.

•Also, maybe incorporate some of the external links into the relevant sections throughout the page if possible.

•The references should be the last thing, underneath the glossary and external links

•Overall well researched and it seems to be well written, just some formatting and consistency problems, but good job so far.

--z3332183 21:32, 28 September 2011 (EST)

Group 8: Peer Assessment

  • Overall you page is well structured, has relevant content and is written nicely. It also fits nicely together, good group work.
  • May be you could put a picture of a person with this disorder in?
  • Structure and content of the introduction and history is good. What happened between 1907 and 1988?
  • Good use of subheadings in the epidemiology section
  • You aetiology section is informative and nicely balanced
  • "The fraxtaxin gene on chromosome 9": can you get a better contrast for that image?
  • The aetiology, neuropathology, clinical presentations and diagnosis sections are all well written, interesting and have the right amount of text and images
  • The current research section looks rather unfinished in comparison to the rest. May be you can put the information into a few paragraphs instead of bullet points.
  • The current research section is interesting, just lacks dates
  • Glossary, References and External links are fine --z3279511 17:13, 28 September 2011 (EST)

Group 8 peer review

  • Introduction and History are well presented, and structured well. It's quite easy to read. The history section could perhaps have a little bit more substance, and your findings end around 1996; does this mean that there has been nothing done since 1996? What is the situation now? It's also slightly lacking in the time period between 1907-1988; surely some significant discoveries would have been made in this period.
  • Epidemiology is well structured and covers all aspects of epidemiology. Perhaps a graph or table will structure the information slightly better, but otherwise, good.
  • Protect your student-drawn image with the copyright statement, unless you're happy to let it go around! The subheadings in the aetiology section are appropriate and the bold words make it easy to read. The images help break up text and this section is very well outlined.
  • Perhaps a little more could be written on the pathogenesis section? After all, this is the section where you can take the time to discuss the disease process and how it manifests itself into the form which presents with the condition in the clinic. Therefore, just a little bit more? Try explaining how it affects normal physiology (since patho- (disease) -physiology (normal function)); how disease state alters normal function.
  • Excellent Neuropathology section with imaging and referencing all well outlined. The previously mentioned point about the pathophysiology section has to just refer to the neuropathology section to see how it is done!
  • Clinical presentation is well set out with the tables used to break up the information. Diagrams and tables in the diagnosis section still require linking to the videos? Perhaps get an image snapshot of the video and link through there.
  • Treatment section would be better with a diagram, otherwise it is adequate
  • Current research doesn't really give me any dates as to the information, but otherwise is set out well.
  • Reference section is extensive and well done - consider putting the glossary before the reference section to make it more accessible.

--Leonard Tiong 12:51, 28 September 2011 (EST)

Group 8

  • Good introduction
  • I find it hard to believe that you have only found 5 significant findings to put in your timeline, it should also more recent findings
  • Good epidemiology
  • There is a lot of information in etiology- although the subheadings are good try and think of a way to break up the text

(For further detail on the mechanisms of replication slippage, see Viguera et al (2001) is unnecessary

  • Postnatal diagnosis table also seems a little unnecessary
  • Treatment needs an image
  • Current research should be explained
  • Not sure why you put your glossary under your references but this should be the other way around so the reader can easily access the glossary

Group 8

  • The index should be on the left side
  • Introduction: contend is fine, but could be a little more general
  • History: is there mo important milestone after 1996?
  • Epidemiology: the first two subheadings could have more contend, the others are well done
  • Aetiology: well done, good structure and contend, but the chromosome image could have been done with more effort
  • Pathogenesis: looks good
  • Neuropathology: well done, very nice drawings
  • Clinical Presentation: good contend, but more subheadings to break up the text would look better
  • Diagnosis: very well done
  • Treatment: well done
  • Research: should be more detailed contend
  • The Glossary should be placed before the references

--Z3387190 22:37, 27 September 2011 (EST)

Group 8

  • The introduction had a nice flow, maybe fix the image on the side for better formatting
  • A suggestion would be to expand on the timeline because it is quite brief.
  • The use of sub-headings do make it easier to read but it looks not appealing because the information after the sub-headings seem too short. Maybe include a graph!
  • Aetiology is not referenced well even though there's so much information there.
  • Neuropathology section is too long and i wonder is it really needed too this much of an extent.
  • Use of tables is good and well written
  • The current research section is short and easy to read. It is nice to see that each point is referenced.

--z3330313 00:33, 29 September 2011 (EST)

Comments on Group Project


  • Smooth flow to the page due to good placements of headings, subheadings and subsubheadings.
  • The referencing is well-done with correct formatting and there seemed to be no duplication.
  • The external links section is good.


  • There are some inconsistencies in formatting.
  • Some of the images do not come with descriptions and copyright statements allowing wikiusers to use images, especially for student drawn ones.

Specific corrections:

  • Maybe include “frataxin” in the glossary?
  • Reference 38 is missing.
  • The image on the frataxin gene is a bit faint, maybe it would be better to make the outline darker?

--Z3389806 06:25, 27 September 2011 (EST)

Group 8 Critique

  1. • Epidemiologic figures should not be included in the introduction. Also, neither should pathogenesis. Maybe just explain very simply what the condition is and explain the genes in the pathogenesis. The introduction should be organised a little better.
  2. • The history is rather short. You need to explain in a little more detail how the disease was discovered, and don’t mention pathogenesis or gene function.
  3. • The epidemiology is ok
  4. • Aetiology is fine. Good use of images to support your points
  5. • Pathogenesis should include the sentences on genes found in the introduction
  6. • Neuropathology is good, but you need to explain the image of the cross section of the spinal cord
  7. • Clinical presentation is quite good
  8. • Diagnosis is very good. Your tables in this section are excellent. Good use of images
  9. • Treatment and Current Research is very good.
  10. • Glossary is fine

--Robert Klein 16:05, 26 September 2011 (EST)

Peer Assessment Group 8-Friedreich's Ataxia

  • I am sure you will fix the big gap at the beginning of the page where the contents are supposed to be
  • While the introducton is good with relevant information, the paragraph is too long.Maybe consider breaking it into two paragraphs.
  • The history section is repititive of the actual timeline. All the information under history could be summarized to incorporate in the timeline.
  • The timeline needs further information of what has happened since 1996
  • I like how you have the different sections within 'Epidemiology' highlighted. Only improvement you could make is maybe expand on 'Distribution,' 'Populations,' and 'Gender'.
  • 'Aetiology' has a good balance of interesting information, referencing and pictures.
  • The image 'The frataxin gene on chromosome 9' has very poor resolution and missing the copyright information. The description could be a bit more detailed too
  • The image 'Cross Section of the Spinal Cord' is missing a description.
  • There are a number of student drawn images which is relevant to the section and makes the page look quite original
  • The table under 'Diagnosis' is well done and informative
  • The 'Current Research Section' will look better as paragraphs rather than bullet points.

Friedreich's Ataxia

  • Where did the contents go?
  • Try splitting the introduction up into a few paragraphs as opposed to just the one
  • Is there nothing else to put in history? What you've got is good, but i'm interested in seeing a bit more
  • 'Atiology' looks good, there seems to be quite a bit of work gone into it. But how are there no references for 'Inheritance'
  • Split your paragraphs up a bit more in 'Neuropathy', at the moment it is quite difficult to read
  • Can you try to include all of the signs and symptoms into a table? It's a bit difficult to read when you list the in text; though the table already present looks really good
  • Diagnosis looks fantastic, very nicely set out and lots of interesting information
  • Try to get a picture for either 'Diagnosis' or 'Treatment'. The bottom half of the page looks a bit bare
  • Can you expand 'Current Research' a bit, explain what and how they do the research etc
  • No glossary?
  • The page looks quite good, you've clearly got a lot of information there, just need to make it a bit easier to read
  • 'Glossary' will fit better before the references

Group 8

  • Glossary under the references? This needs to be moved up so people can actually find it
  • Good introduction. Gives the background and information that is needed
  • History is very short. I believe there is more research after 1996 and what you have supplied is very limited
  • Epidemiology is great. I like how you divided it up in sections! Easy to read and gauge the spectrum of the condition
  • ‘(For further detail on the mechanisms of replication slippage, see Viguera et al (2001)’ This is not necessary
  • etiology is very detailed! Maybe think of ways to break up the text for the reader. The subheadings are great but there is just A LOT to get through
  • the diagnosis is great
  • postnatal diagnosis- I don’t really understand why you need the table here
  • treatment could do with an image. Other than that its really good information
  • current research should not be a list. It should shed light on what is to come and the significance of current research- not just a list of papers published recently

Group 8 Assessment

  • Kind of random, but I noticed all the pictures are formatted the same exact way and on the right hand side. It might be good to switch some of them around just so it looks more appealing and not cluttered.
  • Great job of linking the same resource to the same reference number in the reference section.
  • Good job of condensing down the timeline into a few major incidents. Maybe consider compiling them into a chart?
  • The diagnostic tests chart was impeccable! Superb job on it. My only concern are the videos and whether or not they need better referencing.
  • Only parts I saw that needed more referencing were: the Cerebellum and the symptoms chart.
  • This is the best referencing job I have noticed thus far. Great job!!!

Only real negative comment is that it looks kind of jumbled and very wordy. Maybe separating things out into charts and bullet points would help to fix this problem…

  • Glossary would also probably look a bit more organized if it were a bullet list. Also, do the definitions need to have references also?
  • Might be a good idea to also have the glossary terms linked with the words in the wiki page, so that the reader can easily get access to the word in the glossary. Good job at least bolding them though!
  • Great job guys! Just a few formatting things and some referencing and you should be good to go.

--Z3391078 16:14, 27 September 2011 (EST)

Peer Assessment: Group Project 8

  • The contents would be improved by being placed on the left hand side of the page.
  • Introduction and history are clear and concise.
  • The information on etiology could be put in a table to increase the viewer's ease of reading.
  • The sections on aetiology, neuropathology, clinical presentations and diagnosis are well written, formatted and have a good balance between images and text.
  • The hand drawn images are clear and add to the text.
  • In current research more of a summary of the papers and their findings would make the section more informative, as it is unknown what some of the papers are even about: "New advances in the treatment of Friedreich ataxia: promisses and pitfalls." What are these 'promises' and 'pitfalls'?
  • The glossary and external links sections could be moved higher up, prior to the references as the references denote the end of the page.
  • Overall this project provides a large amount of knowledge for the reader on Friedreich ataxia. It is obviously well researched and thoughtfully formatted.

--z3217345 09:56, 28 September 2011 (EST)

Group 8:

  • Introduction: gives a very good, short and broad overview of the disease and links nicely with the history which is also very informative. These sections are very easy to read and I like how the picture connects the two sections furthermore.
  • Epidemiology is well researched and covers all aspects. It could benefit from the use of a table or graph to break up the text but otherwise this is a very good section.
  • Etiology: Student drawn image needs to include proper referencing and it is a little hard to see; maybe you could fiddle with the contrast or go over it with a sharpie. A few mistakes noticed; Is this meant to be ‘some’, “In same cases, this...”?, “As already mentionned,” and “...investigated in mouse embroys,” so make sure that this section is proof read. Overall this section is very good and extensive.
  • Pathogenesis is done well, great image to balance out text.
  • Neuropathology: Very impressive student drawn images, although, some need more of an explanation of the drawing. This images compliment the well researched text very well. Good job!
  • Clinical presentation: Good balance between images (could be a little larger), text and tables – it really maintains the reader’s attention.
  • Diagnosis: Very impressive table, it is easy to read and not cluttered with too much text, I like the colour choice and I love the use of images and videos – it really consolidates everything. It is good that the table under postnatal diagnosis matches the colour scheme of the one above as it creates cohesion, however, it would look better centred in my opinion.
  • Treatment: Very good
  • Current research: A few key points and sentences from each paper would be nice to make this section feel more complete.

--z3290815 08:49, 29 September 2011 (EST)


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

Sorry, we were the group that hadn't quite made up their mind yet, as you said we should have a think but decide within the next few days, we thought we didn't have to make a decision on the spot. Sorry, we will make our choice soon. --z3389343 18:40, 11 August 2011 (EST)

Hi guys! I agree with Elina we should just contact each other via this discussion page. I have checked out some topics and I think Duchenne Muscular Dystrophy and Angelman's syndrome look very interesting. They have many components associated like cognitive and skeletal disabilities.. Anyway let me know what you think or if you guys have looked into any topics yourselves. I also think we should meet next week if we all have a break in between the lecture and lab would you guys like to meet then? --z3294943 11:47, 6 August 2011 (EST)

Sorry I couldn't write at the bottom of page I'm on my iPhone. I think we need to choose some with both anatomical changes as well as neurological and I think duchenne MD and angelman's fit those categories. They are also both genetic so let's look into both as another group maybe interested in either topic. So let's come to the lab with the two journal article required and have our first choice ready and decide during the break. How does that sound?

--Karmen Magi 07:32, 8 August 2011 (EST)

(Shifted Elina's contribution to discussion page. --Z3329495 22:45, 7 August 2011 (EST)) Hey all,

I had a look at the list and thought I'd start making some suggestions. I am a neuroscience student, so my interest lies in anomalies that are related to the nervous system, but I won't insist on doing something about that if noone else wants to!

Here are the ones that so far seem most appealing to me:

  • Holoprosencephaly: the forebrain of the developing embryo fails to fold into two hemispheres. Caused by Hox genes failing to activate along the midline of the developing brain. (I've done uni stuff on Hox genes before, so I know where to start looking for material.)
  • Angelman's Syndrome: neurogenetic disorder with a variety of clinical features. characterised by a loss of a region of chromosome 15. this loss can be the result of varying genetic problems, including gender-related epigenetic imprinting, which makes me think that the genetics behind this Syndrome are very interesting (but I totally understand if that's just me).
  • Fragile X syndrome: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ again, I find the genetics behind this very interesting.

Then here's a list of the ones I wouldn't recommend doing:

  • DiGeorge's Syndrome, Farber's Disease, Anencephaly, as there seems to be very little known about that (correct me if I'm wrong!)
  • Turner's & Klinefelter Syndromes, Cystic Fibrosis - I'm just not particularly interested in them/sick of them (sorry)

And here are some I had a look at and feel neutral about:

  • Williams Syndrome, Duchenne Muscular Dystrophy, Osteogenesis Imperfecta, Friedreich's Ataxia, Lesch-Nyhan Syndrome.

As you see, I didn't go through the whole list.

Let me know what you think :)

--Elina Jacobs 18:43, 7 August 2011 (EST)

Hi guys,

Duchenne Muscular Dystrophy sounds quite interesting to me - the anatomical changes (musculoskeletal) would be something i'm more comfortable in as i haven't done any physl, neuro or genetics course. as i'm an anatomy major i think i can contribute more with physical changes - as for molecular problems i'm not very strong with that. Meeting up before the practical on Thursday sounds like a good time to meet up. --Z3329495 22:45, 7 August 2011 (EST)

Hey All

looks like I'm last to contribute though, even so i did some searching for journals and reasearch papers and there is a fair bit on Duchenne Muscular Dystrophy though i am sorry i wasn't able to find a abnormality myself as it was my Mums birthday on the weekend so was busy planning that so i will find one by the next lab. Also im free the gap before the lab so if we are meeting after the lecture then I'm available.

--z3332250 22:29, 8 August 2011 (EST)


--z3294943 19:28, 8 August 2011 (EST)

There are at least two other groups that are looking at Duchenne Muscular Dystrophy, so I think it's good if we keep Angelman's Syndrome as our consideration as well. I think that still has enough anatomical features to it, and as I've done some molecular biology & genetics, I'd be happy to be the one focusing on that aspect. I'll try and find research and review articles on that today, so we can compare on thursday! --z3389343 11:15, 9 August 2011 (EST)

Sure thing, so we're looking up articles on angelman's syndrome then?

Review article: http://jmg.bmj.com/content/40/2/87.short Research article: http://jmg.bmj.com/content/38/12/834.abstract

--Z3329495 11:45, 9 August 2011 (EST)

Peer Review

  • good wikipage
  • was able to understand it

--z3060621 21:48, 28 September 2011 (EST)


I choose to do a congenial abnormality more related to anatomy abnormality of the cleft and cleft pallets.


--Ryan Tran 12:39, 9 August 2011 (EST)

Here are two more about Angelman Syndrome:

--z3389343 21:09, 9 August 2011 (EST)

hey, the second link seems to be broken? --Z3329495 22:25, 10 August 2011 (EST)

Hi everyone, I think we need to choose exactly what we are doing for the assessment before the week end. I checked out holoprosenchephaly i think it is really neuro based and from what i have read ryan and i would like to do something more anatomical.. maybe we could try and decide on something that has all the components we are interested in and by the end of the weekend have made a decision.

I thought maybe Friedreich Ataxia kind of embodies all aspects we are interested in.. It is a defect of the nervous system which lead to muscular problems, special sensory organ problems, diabetes, heart problems and the genetics are well understood.. from what i see there is quite a lot of info on it.. so can we please come to a decision soon.. I think it will be easy to section think disease up eg history, embryonic development, the abnormality and when/where.how it occurs, the genetic component, neurological problems, skeletal muscle degeneration, structural/anatomical problems in the heart optic and auditory, diagnosis, treatment and what may happen in the future. let me know what you think or if you have any other disease with similar categories so everyone in the group is happy with our choice. --z3294943 17:37, 11 August 2011 (EST)

Jup I'm happy with that, as I've kinda mentioned already above, it's one of the topics that I'm not fuzzed about either way. If the others agree, I'm happy to go ahead. And thinking about it, it will probably be easier than deciding on a particular case of holoprosencephaly that will make everyone happy. --z3389343 18:40, 11 August 2011 (EST)

Hey everyone this link from omim might give us better understanding of Friedreich Ataxia..[1] If you guys have any other suggestions please let me know soon. As I would like to get start on categorising the aspects of the disease we choose and dividing them among the group.. have a good weekend! z3294943

read the link provided - looks good to me! seems pretty interesting in that you only get onset in late childhood to early teens. I'll be happy to do Friedreich ataxia. --z3329495 22:20, 13 August 2011 (EST)

Ok great so have we decided on Friereich Ataxia?? DId you all want to meet in the computer room before the next lab in the break we have on thursday. Sorry i missed it last time but i thought we were meeting in the comp room and by the time i went to the lec room you were all gone :( I think we should discuss the aspects we want to research maybe we could all come with a few ideas that we each find interesting for thursday? What do you guys think? --Karmen Magi 11:09, 14 August 2011 (EST)

I came across Rubinstein-Taybi syndrome and thought that seemed quite interesting so I thought I'd suggest it: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002229/. Though if we're all happy with Friedreich's Ataxia let's go ahead with that. Aren't we missing somebody's opinion still? --z3389343 15:02, 14 August 2011 (EST)

Oxidative Stress Response in Friedreich Ataxia

--Karmen Magi 11:43, 14 August 2011 (EST)


i think that's everyone? So we're settled on Friedreich's Ataxia? --z3329495 10:17, 15 August 2011 (EST)

Gene expression responses of Friedreich's ataxia

Im ok with with Friedreich Ataxia it looks interesting I got nothing wrong with it.

--z3332250 23:48, 15 August 2011 (EST)

Pathogenesis of Friedreich Ataxia

--Amanda Tan 11:30, 16 August 2011 (EST)

Ok great so i think we have finally decided! Are we still ok to meet between the lecture and lab this thursday? I think we should started working out what aspects of the disease we are interested in and what should be included on the wed page.. Could we all come with some ideas like pathogensis etc let me know if you guys want to meet.. if so i think the computer room would be best. --Karmen Magi 20:20, 16 August 2011 (EST)

Yes that sounds good to me. And meeting in the computer room is fine, provided it is free, which I assume as it seemed to be last week? --z3389343 22:10, 16 August 2011 (EST)

Suggested Outline:

  1. Background:
    1. History
    2. Epidemiology
  2. Genetics:
    1. Inheritance
    2. genetic expression (pre- and postnatally)
  3. Pathogenesis:
    1. first genetics aspect
    2. lead into physiology
  4. Pathophysiology & Clinical Symptoms - link them together
  5. Clinical aspect - split it into symptoms and complications
  6. Diagnosis (in table)
  7. Treatment (include genetic sreening)
  8. Current Research
  9. Glossary
  • Amanda: pathpart of cardio & musculature, pathpart of pathogenesis, diagnosis
  • Elina: Genetics, molecular & cellular parts of neurophysio aspect, current research
  • Karmen: Neurophysiology aspect, background
  • Ryan: Treatment, physiopart of pathogenesis, physiopart of cardio and musculature

everyone: make drawing, decide at the end which one we think is best, find video of possible

Karmen, i think this might be of interest to you. It includes historical information on Friedreich's ataxia: Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics

Elina, this might be of use to you? HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model I tried reading through it but too much vital information about genetics just went right over my head. It looks promising in terms of research into treatment. Also: The Structure and Function of Frataxin Possibly useful in genetics component when describing frataxin?

Novel treatment: Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

--Z3329495 19:31, 19 August 2011 (EST)

Hi all, i'm having trouble locating information on the muscular effects of Friedreich's Ataxia. I've found much more information on the cardiac aspect of Friedreich's Ataxia but if anyone has found anything even mentioning muscular effects please let me know! all the papers i've located only mentions it in one or two lines.

--Z3329495 19:03, 22 August 2011 (EST) Antioxidant treatment: http://www.ncbi.nlm.nih.gov/pubmed/15824263

Prenatal detection of Friedreich: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320340327/abstract

Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia. http://www.ncbi.nlm.nih.gov/pubmed/20339857 The dorsal root ganglion in Friedreich's ataxia. http://www.ncbi.nlm.nih.gov/pubmed/19727777 --z3294943 10:32, 25 August 2011 (EST)

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo: http://www.sciencedirect.com/science/article/pii/S0960896600001085

Elina, if you could find this article it'd be a great help - A preliminary study of dynamic muscle function in hereditary ataxia.: http://www.ncbi.nlm.nih.gov/pubmed/7214252

--z3389343 17:23, 25 August 2011 (EST) so I can get access to this journal via Edinburgh Uni, but for some strange reason, there is no full text..? it's really weird. sorry :/

I found some things as well on Signs and a bit on heart:

Chest pain during exercise as first manifestation of Friedreich's ataxia.[1]

Left ventricular function in Friedreich's ataxia. An echocardiographic study.[2]

Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia.[3]

Friedreich's Ataxia as a Cause of Premature Coronary Artery Disease[4]

  1. <pubmed>484058</pubmed>
  2. <pubmed>482403</pubmed>
  3. <pubmed>1277199</pubmed>
  4. <pubmed>1894724</pubmed>

Ryan Tran 10:55, 25 August 2011 (EST)

Carnitine therapy and muscular biopsies http://jcn.sagepub.com/content/17/6/453.full.pdf+html http://www.ncbi.nlm.nih.gov/pubmed/12174969 --z3294943 10:59, 25 August 2011 (EST)

Cognitive impairment in spinocerebellar degeneration. it could be interesting to talk about cognitive elements of FRDA http://www.ncbi.nlm.nih.gov/pubmed/19295212

Chelator and vehicle effect on hematological indices. This is of note for using Chelator as a treatment option for FA (in particular cardiomyopathy).

For the glossary, i think we should bold the words we've put in the glossary for easy reference. what do you guys think? i've done two words in that style so see if you think it'll be a good idea to do. --Amanda Tan 16:32, 25 August 2011 (EST)

For the current research: http://www.future-science.com/doi/abs/10.4155/cli.11.93?journalCode=cli --z3389343 22:18, 25 August 2011 (EST)

Also, I think there will be different genetic factors that will have influences on the severity of the syndrome, I'll mention that in my genetics bit but won't go into detail about what the actual pathophysiology is, I'll just introduce it and then somehow mention that the pathophysiology will be dealt with in subsequent sections. Does that sound alright? Here's an example: http://www.ncbi.nlm.nih.gov/pubmed/11269509 Also, if you find there's a genetic component mentionned, just let me know about that article and I'll make sure I cover the genetic explanation, so you can just mention that for details on the genetics, refer to the genetics section. Do you think that makes sense?

I think you could just add it into the pathophysiology part since you already read it? Right now i've just been reading all articles related to cardio and adding them into the relevant sections. Not that you should do other sections, but i think if you come across something relevant to another section it'd be easier if you just added it in rather than have the person doing that section read it all again to add it in?

Hey elina this might be helpful in understanding the frataxin gene. http://www.springerlink.com.wwwproxy0.library.unsw.edu.au/content/237n26h5wj083865/ -z3294943

Prenatal diagnosis FRDA http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/9742572 -z3294943

what is the intron-1 of the frataxin gene? the paper "The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich’s ataxia" mentions it as an important part for ventricular hypertophy in relating GAA repeats in the intron-1 of the frataxin gene.

Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. can someone please help me find this article? the UNSW database seems to have it but it won't allow me access to the full article even after opening it from Sirius.

explanation of an intron:

I guess you know how the coding bit of a gene is transcribed from DNA to mRNA (messenger RNA), which then gets translated into protein? basically, the preliminary RNA transcript you get is hardly ever translated into protein as such, there are a few modifications that happen first. one of these is that parts of the mRNA get cut out - this is called splicing. the bits that are cut out and not used for the translation are called introns. why exactly this mutation that sits in the intron, hence the part that is cut out, has such a big effect is quite interesting; haven't had the time to read thoroughly through the papers yet to find out why exactly that has an effect. but does this explanation help so far? so intron-1 would be the first bit that is cut out of the mRNA molecule you get from the frataxin gene.

Hey guys! here are some ways of diagnosis/characterising the progression of FRDA

  • electromyogram (EMG), which measures the electrical activity of muscle cells,
  • nerve conduction studies, which measure the speed with which nerves transmit impulses,
  • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
  • echocardiogram, which records the position and motion of the heart muscle,
  • blood tests to check for elevated glucose levels and vitamin E levels, and
  • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.

and i have been seeing this come up alot for treatment [2] [1] --z3294943 19:39, 29 August 2011 (EST)

guys, you scare me with the amount of info you've already put up, but it's looking good! I really don't want to be lagging behind but I'm really stressing out with what I need to do this week, I'll try to put some stuff up but it won't be much. I promiss I'll work intensively on it the week it's due, cause before that I just won't have much time. sorry! I do have a couple more genetics related references, they're on my own student page at the mo as I didn't wanna keep adding them randomly into the discussion, but thought it would be better to just put them here once I have a reasonable pool together that I've gone through and checked for relevance.

A possible teratogen? Taurine.. http://www.ncbi.nlm.nih.gov/pubmed?term=friedreich%20ataxia/embryology&cmd=correctspelling

Hi guys just with in text referencing eg... Tsou et al, (2011) [2] lets just do the last name of first author et al and date + ref after!

Hey Ryan, could you do the table up (about the stuff carmen mentioned today) in diagnosis?

Hi guys! hope your enjoying you time off! I came across this book on pubmed it has PMID [3] i think we all should have a look it has alot of info!! hope you find it helpful! --z3294943 11:10, 5 August 2011 (EST)

Looks great! thanks! it'll help with the treatment section! --z3329495 22:09, 5 September 2011 (EST)

I've edited the treatment section but the person who filled in information on antioxidants please go through it and rewrite some of it. I didn't know all the information so i was hesitant to edit anything. Also include a sentence or two explaining why antioxidant treatment will work. --z3329495 18:03, 8 September 2011 (EST)

Our references are missing?! i just noticed it! i fixed up some strange references, but it didn't fix it! if it doesn't reappear by next week we should talk to Mark.

--z3329495 19:51, 8 September 2011 (EST)

Hi guys, Are we able to meet on the wednesday of next week?? I think we really need to go over this project. We also need to add in more picture. So please if you find anything related to your subject please add it in. I am having trouble finding any picture that i am able to reuse so im having to draw alot of mine. so even if you cant find something please add a drawing or video. just to reiterate what sections everyone is meant to be working on:

  • Amanda: pathpart of cardio & musculature, pathpart of pathogenesis, diagnosis
  • Elina: Genetics, molecular & cellular parts of neurophysio aspect, current research
  • Karmen: Neurophysiology aspect, background, history
  • Ryan: Treatment, physiopart of pathogenesis, physiopart of cardio and musculature

everyone: make drawing, decide at the end which one we think is best, find video of possible

Amanda are you doing diagnosis?? I think there is a few other ways that can be used like MRI/ECG. It might be interesting to add these in with pictures??

What do you think? And Ryan I thought maybe we could add in some treatment option for the deformities like scoliosis? Ie surgery.. Is there anything to aid with pes cavus? Have patient been able to survive heart transplantations? as this is the main cause of death would it help if they received a transplant? I have also read some info about 5-hydroxytryptophan being used as an option of treatment. Anyway let me know what you guys think? --z3294943, 9 September, 2011 (EST)

Hi, yes i'm working on the table of stuff for diagnosis - its on my student page since i'm not done with it yet i didn't want to post it on the main page. Wednesday of next week is fine for me.

--z3329495 22:41, 9 September 2011 (EST)

Well for treatment i could only find clinical tested treatments for mainly cardiac related, but i think its a good idea for treatment for scoliosis. One more question has anyone done a hand drawing yet?.

Ryan Tran 10:44, 10 September 2011 (EST)

I've put up the scoliosis one for the drawn image. also, there is new research into a different kind of iron chelation drug called deferiprone http://www.ncbi.nlm.nih.gov/pubmed/21791473 I've used a bit of this in the diagnosis for MRI (since this paper used MRI technology) but i think it'd worthwhile to put it into the current research. --z3329495 14:18, 10 September 2011 (EST)

Is Elina working on prenatal diagnosis? I've included prenatal and genetic testing in the table i'm working on but i have no information on either. I'm just about finished with the table so i'll just post it on the main page to see how it looks like and what you guys think of it. --z3329495 17:26, 10 September 2011 (EST)

What time we all meeting on Wednesday? and where?

Ryan Tran 23:42, 12 September 2011 (EST)

Hi guys, unfortunately I am unable to come tomorrow i have some family issues. sorry! but i think that thurs will be ok just for final lay out decisions. We need more pics.. so maybe we could all find 2/3 each i think think that would brighten up the page!! If you guys still want to meet tomorrow you can. z3294943

Hi guys, yes I (Elina) am working on prenatal diagnosis - do you want me to simply do it in the same kind of table format, and not have a subsequent section about it beneath? I think the table looks good, and I'd probably just be repeating myself. --Elina Jacobs 19:14, 13 September 2011 (EST)

Hey Elina, could you just post a link to that paper with the muscular info here? I can get something knocked out as soon as. --z3329495 13:26, 16 September 2011 (EST)

Hi guys, I heard today that monday maybe the last day we can upload something for the peer review. So if you have anything else you would like to add please get it done before then just incase! I hope everyone has a great weekend! --Karmen Magi 20:16, 16 September 2011 (EST)

Amanda, here's the reference I was telling you about: Massimo Pandolfo Friedreich ataxia. Handb Clin Neurol: 2011, 103();275-94 PMID:21827895 It's a 20 pages review on what is known about FRDA so far, hopefully you'll find some useful stuff about the muscular aspect in it!

Ryan: here's the genetics treatment article I was talking about: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0001958 let me know if you're struggling with the genetic "jargon" and I'll help you out.

--z3389343 11:44, 17 September 2011 (EST)

Hey Elina, there isn't anything much on the muscular system in that review but i found a paper which i cannot get access to on the UNSW database. If you could access it through your university it would help me a ton! | Natural history of muscle weakness in Friedreich's Ataxia and its relation to loss of ambulation.

Oh no, sorry about that! Also, your link doesn't work for me :/

Should work now - must be because i didn't put a space somewhere...

Sorry, but I can't get access to it either...

Peer Assessments

  • Epidemiology was a bit brief and perhaps could be expanded on or supported with statistics from multiple nations etc.
  • Aetiology section was really detailed and had a great span of information. Your image of the Friedreich’s pedigree could perhaps be slightly bigger on the page because I missed it the first time viewing your page.
  • The neuropathology section was extremely ‘full’. The amount of text in heavy paragraphs may be off putting to some readers. A suggestion would be to break it down with the inclusion of tables and maybe dot-pointing the information that can be summarised.
  • Maybe include a glossary so you can accommodate for all readers.
  • It was good to see that you grouped your references :)

--z3332629 15:29, 22 September 2011 (EST)

  1. <pubmed> 21392622</pubmed>
  2. <pubmed>21652007</pubmed>