Talk:2011 Group Project 8

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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

--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: 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: Research article:

--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/ 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: 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
  7. Treatment (include genetic sreening)
  8. Current Research
  9. Glossary
  • Amanda: pathpart of cardio & musculature, pathpart of pathogenesis
  • Elina: Genetics, molecular & cellular parts of neurophysio aspect
  • 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:

Prenatal detection of Friedreich:

Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia. The dorsal root ganglion in Friedreich's ataxia. --z3294943 10:32, 25 August 2011 (EST)

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo:

Elina, if you could find this article it'd be a great help - A preliminary study of dynamic muscle function in hereditary ataxia.:

Pharmacotherapy for Friedreich ataxia. Here is some theories on treatment --z3294943 10:43, 25 August 2011 (EST)

The in vivo mitochondrial two-step maturation of human frataxin. Elina this may be helpful for you about the gene and its involvement as an iron chaperone --z3294943 10:47, 25 August 2011 (EST)

Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. Some stuff on iron overload and cardiomyopathy --z3294943 10:50, 25 August 2011 (EST)