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

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==Peer Review==
==Peer Review==
'''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'''
''' Group 8 peer review'''

Revision as of 17:13, 28 September 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

Peer Review

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)

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)


--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)


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>