From Embryology

Lab Attendance

Lab wk 2 Attendance:

--Z3332824 12:52, 28 July 2011 (EST)

Lab wk 3 Attendance:

--Z3332824 11:17, 4 August 2011 (EST)

Lab wk 4 Attendance:

--Z3332824 12:36, 11 August 2011 (EST)

Lab wk 6 Attendance:

--Z3332824 10:38, 25 August 2011 (EST)

Lab wk 7 Attendance:

--Z3332824 11:33, 1 September 2011 (EST)

Lab wk 8 Attendance:

--Z3332824 12:45, 8 September 2011 (EST)

Lab wk 9 Attendance:

--Z3332824 12:57, 22 September 2011 (EST)

Lab wk 10 Attendance:

--z3332824 11:34, 29 September 2011 (EST)

Lab wk 11 Attendance:

----z3332824 12:34, 6 October 2011 (EST)

Lab wk 12 Attendance:

--z3332824 11:29, 13 October 2011 (EST)

Lab wk 13 Attendance:

--z3332824 12:01, 20 October 2011 (EST)

Group Assignment quick link:

Lab 1 Assessment - IVF

1. Identify the origin of In Vitro Fertilization and the 2010 nobel prize winner associated with this technique.

Louise Brown was the first successful IVF baby, born in 1978 in Britain. Research into this area had been progressing for at least twenty years prior to this time, and still continues today. In 2010, the Nobel Prize in Physiology or Medicine was awarded to Robert Edwards for his development and contribution to IVF therapy.

2. Identify a recent paper on fertilisation and describe its key findings.

A new technique that has been developed is the screening of sperm using fluorescents. This enables the doctor to study the sperm's health and chromosomes, and can detect genetic abnormalities and chromosome aneuploidy. It has been extremely useful as an aid for couples whoare having difficulty conceiving, especially in cases of couples who have had multiple IVF attempts.


3. Identify 2 congenital anomalies.

-Spina bifida

-Cystic fibrosis

--User:Z3332824 15:44, 29 July 2011 (EST)

--Mark Hill 00:48, 30 July 2011 (EST) Well done. the reference link is good or you could have: The use of fluorescent in situ hybridization in male infertility. Hwang K, Weedin JW, Lamb DJ. Ther Adv Urol. 2010 Aug;2(4):157-69. PMID: 21789092


A new technique that has been developed is the screening of sperm using fluorescents. This enables the doctor to study the sperm's health and chromosomes, and can detect genetic abnormalities and chromosome aneuploidy. It has been extremely useful as an aid for couples whoare having difficulty conceiving, especially in cases of couples who have had multiple IVF attempts.[1]


  1. <pubmed>21789092</pubmed>

Lab 2 Assessment - ZP3 Glycoprotein

1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation.

Sperm possess a special protein on their heads that upon reaching the egg in the female, interact with glycoprotein ZP3, a sperm receptor molecule on the zona pellucida. This receptor is species-specific – i.e. only a human sperm can fuse with a human egg. ZP3 induces degradative enzymes stored in the sperm’s acrosome to be released, enabling the sperm to break through the tough zona pellucida and reach the oocyte.

--User:Z3332824 22:15, 5 August 2011 (EST)

Lab 3 Assessment - Maternal Diet During Pregnancy

1. What is the maternal dietary requirement for late neural development?

A women's diet is extremely important when she is pregnant, and she must be careful to keep up the proper nutrition needed for her baby. An example is folate, as it helps prevent spina bificda. In addition to folate, iodine is also very important in the growth and development of the baby's neural development. Iodine is necessary for normal thyroid function - this is an important endocrine organ, especially in babies and young children. The thyroid gland produces hormones that are vital for nervous system and brain development.

2. Upload a picture relating to your group project

Patterns of zona pellucida deposition.JPG

Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles. [1]


  1. <pubmed>21383844</pubmed>

--User:Z3332824 17:56, 17 August 2011 (EST)

Lab 4 Online Assessment - Allantois and vascular shunts

1. The allantois, identified in the placental cord, is continuous with what anatomical structure? The allantois is a thin extension of the cloaca and extends into the connecting stalk and yolk sac. Later in development it becomes part of the bladder in the urogenital sinus.

2. Identify the 3 vascular shunts, and their location, in the embryonic circulation.

-The first shunt is in the heart, and is called the foramen ovale. It allows direct blood flow between the atria of the embryo.

-The second is the ductus arteriosis connecting the descending aortic arch to the pulmonary artery.

-The third shunt is the ductus venosus and connects the portal sinus with the inferior vena cava.

--User:z3332824 10:37, 25 August 2011 (EST)

Lab 5 Assessment - Diaphragmatic Hernia

1. Which side (L/R) is most common for diaphragmatic hernia and why?

Diaphragmatic hernias occur due to the pleuralperitoneal foramen (hole between the lungs and abdominal organs) not closing over properly. This occurs mostly on the left side in developing fetuses.

--User:Z3332824 10:50, 1 September 2011 (EST)

Lab 6 Assessment - Palatal shelves and neural crest

1. What week of development do the palatal shelves fuse? - Week 9

2. What early animal model helped elucidate the neural crest origin and migration of neural crest cells? - the chicken.

3. What abnormality results from neural crest not migrating into the cardiac outflow tract? - Tetralogy of Fallot

--User:z3332824 11:36, 11th September 2011 (EST)

Lab 7 Assessment - Muscle

1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy?

Generally, satellite cells are involved in hypertrophy as they sustain the enlargement by increasing the myonuclei. However, they are not necessary for muscle hypertrophy.

2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift?

Chronic low frequency stimulation damages the muscle cells, and thus recruits satellite cells to the fast fibre muscle. This causes a shift to slow fibres, as satellite cells are needed for repair of the damaged muscle cells.

Lab week 11 Assessment - Sensory

1. Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss.

Congenital rubella: if the mother is infected with rubella while she is pregnant, this can cause deafness/hearing loss in her unborn baby.

2. Identify 3 factors that contribute to poor neonatal drainage of the middle ear. -Auditory tube formation is abnormal during development

-Blockage/obstruction of the auditory tube

-In children, it is shorter and more horizontal than in adults, thus it does not have a gravitational advantage to help it drain. This also increases the risk of middle ear infections.

3. Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)

Treacher Collins Syndrome (1)- abnormal development of the head/craniofacial, and as a result, affects hearing. It is caused my a mutation in the 'Treacle' gene TCOF1. -Chromosome: 5q32, Phenotype MIM number:154500, Gene/Locus MIM Number: 606847

Lab week 12 Assessment - Heart Development

1. Name the components that give rise to the interatrial septum and the passages that connect the right and left atria.

-Septum primum and septum secondum

2. Identify the cardiac defects that arise through abnormal development of the outflow tract.

-Ventricular Septal and Truncus Arteriosis

Comments about Trisomy 21 page

  • Weird order of topics - why is recent findings at the top? Surely you would explain the disease first so we understand the recent research? Prevalence is further down, I would suggest putting it near the top/beginning.
  • Pathogenesis? Signs and Symptoms? Needs to be clearly outlined, and the associated defects as subheadings
  • Instead of just listing things, explain what they mean - e.g. the heart defects, its just a list of problems that are links. You just need a brief sentence to say what it is, and then include the link if people want more.
  • Novel Screening strategies - the information is just listed, would be better if it was explained, especially the picture.
  • Good use of pictures, perhaps a few of grown children/adults with Trisomy 21 - not just of the chromosomes, graphs and one baby.
  • Overall, I think the right information is there, but as someone who is reading it to LEARN about it, it needs much more explanation of the terms, processes and findings. If this was presented as a lecture, then maybe it would be enough as you would then expand on the points as you spoke, but this is not enough if you were using this page for understanding the disease.

--Z3332824 22:59, 20 September 2011 (EST)

Peer Assessment of Group Projects

Turner’s Syndrome

  • Intro: sentences should be divided up into shorter ones, not 2 sentences
  • The picture next to epidemiology may look better on the other side? Balance it with the abnormalities graph
  • The 3rd sentence of the Epidemiology para could be worded better – you don’t need to use the word ‘remaining’
  • Hyperlink to glossary words from intro and epidemiology (like you have in the etiology section)
  • Clinical manifestations section is good – I like the layout
  • Wording of Diagnosis is funny – re-read it out loud and you will see 
  • Good use of tables, but 2nd is incomplete and needs a pic for the baby box
  • Perhaps expand on some of the treatments e.g. Speech and Future Research
  • Current research section is confusing with so many parts bolded, maybe use different formatting or colours to break it up a bit?
  • Referencing – some are repeated several times one after another, I think there is a way to condense them? (e.g. references 39-42 are all the same)

Di George Syndrome

  • Epidemiology – hyperlink technical terms to glossary?
  • The pathophysiology/pathogenesis sections (pharyngeal arches onwards) needs to be linked back to the syndrome. You list it in the “genes” section then describe the normal development, but it needs to be described to what happens in the syndrome/abnormal development.
  • Don’t forget to add in the missing images in the diagnostic techniques
  • You have several (excellent) summary tables – I think the format should be consistent in each, would make it look/flow better
  • Typical symptoms: Newborn section can be condensed
  • Current and future research could benefit by being broken up a bit – maybe use subheadings, colour or bold main points – it just is a big slab of text and looks daunting to read.
  • References: some just have the PMID number and need to be fixed so it reads the whole reference (just for consistency)
  • Excellent work guys, this is a really good page.

Klinefelter’s Syndrome

  • The first two paras of the introduction belongs in the genetics/etiology section. Need a broad intro to the actual syndrome and what happens in it. You don’t need to give a brief overview of all the sections, this isn’t an English essay.
  • History- break up with bullet points?
  • Figure 3 is a bit small – a bigger pic will look better I think
  • Pictures in the Pathogenesis section look funny with the text – maybe have one under the other? It just squares the text in the middle and it looks odd.
  • Don’t forget the missing pics in the signs and symptoms table
  • History/timeline table might look better in purple – keep it consistent with the others.
  • In the Current Research section, the 2nd paper that you have described is written with very colloquial language – can’t use that here! Maybe have a brief intro para about current research and where its headed etc, not just a description of papers. Also, maybe link them to other papers, e.g. This paper shows similar results to _______, surely there are similar findings in particular areas of research?
  • Fertility picture needs to be in a ‘Figure’ box with a description and explanation of what it means.

Huntington’s disease

  • Second sentence of intro is WAY too detailed for the intro, it means very little as the disease has not yet been explained to us and is too technical – OR, keep it but explain it in a more general way.
  • What do you mean by familially or sporadical development? Define what you mean by this (intro)
  • Timeline – events need to be explained. E.g. Venezuela Project – what is this? Why is it significant? (this is needed for most of the history entries)
  • HTT and normal functions – can you explain what some of the processes are? E.g. dynactin complex, clathrin-mediated endocytosis are?
  • Calcium signalling in pathogenesis – maybe explain why the calcium signalling pathway is important?
  • The video file – make sure you write a little para about it. It has a new headings – shouldn’t it be a subheading?
  • The paragraph of ‘Imaging’ in diagnostic tests needs to be pushed so its under the pics from neuropathology
  • Tetrabenazine – I think have an intro sentence about it to highlight that this is the most commonly used one, as you only discuss it in depth (as a drug treatment) – unless you are going to add in explanations of other drugs?
  • In Current/future research, refer to the pics on the RHS if they are relevant, otherwise I think they need to go somewhere else
  • Overall comment: its good, lots of research, but even as someone who has a background in bio, we still don’t know everything about everything, so I think as you go, explain some of the more complicated processes so you can really understand what is going on.

Group 5 – Fragile X

  • Intro looks funny with a pic on each side of the text – reconsider this formatting. Maybe both on one side and one under the other?
  • Intro 1st para is very detailed for an intro- perhaps explain it more, or in more general terms. The detail will come later
  • The intro sentence in history would be better in the intro.
  • You keep referring to the FMR1 gene, but I have no idea what this is or how it is relevant. Please explain it somewhere! Maybe have a short para just on it and explain about it.
  • In signs and symptoms, are ‘emotional characteristics’ and ‘language and speech’ meant to be their own subheadings, or subheadings of ‘intellectual development’?
  • Diagnosis section is not complete, needs a lot more info and explanation of the techniques, how they work, why they are used/relevant. – Modified PCR section is too wordy.
  • Treatment table is good, can you stretch it so it takes up the whole box instead of being centered? Would look better
  • Recent research – surely there is more you can discuss/other areas?
  • I’m sure everyone else has mentioned it, but the glossary needs work. Really, just define lots of the ‘big’ words, as you can’t assume everyone knows what they all mean.

Group 6 Tetralogy of Fallot

  • History – what has been done in the last 50yrs? It seems to stop around 1950.
  • Signs and symptoms- needs to be edited so it flows better, avoid long wordy sentences – just break them up into 2 (e.g abnormal growth part). Do you have a pic of a blue baby?
  • Genetics- need a bit more space between each gene section, just to make it really clear (e.g. between the end of 5q34 and 20p12.1)
  • Diagnostic tests table is good (but incomplete), perhaps consider using colours like other groups has? But the bright green of the shunt table is too bright, it hurts my eyes haha.
  • References under the reference table needs to be fixed – do you want them to be in the table, or a list of them or what? Same for the references in the future directions section.
  • Very well researched and thorough explanations
  • Maybe expand the glossary?
  • Reference section has some that double up (one after another) – there is a way to fix this and condense it.
  • Do you have some photos of real hearts that have been affected by this disorder?

Group 7 Angelman Syndrome

  • Intro – a pic of a typical sufferer would be great
  • History – you have a different date to the intro for the first time it was described as a disease. Is it 1964 or 1965? Table is good, but I think the word ‘Notes’ for the 2nd column is funny, surely you can think of a better word like, ‘Progress of disease’ or something?
  • Epidemiology section seems incomplete, as does Aetiology
  • Aetiology – needs another column for what the effects of each class of mutation has on the person, and maybe a brief explanation of what each mechanism means?
  • Pathogenesis – picture of UB3EA is too big. I would re-write this section, as although the info is here, it is too wordy. Split big sentences into 2 or 3, it will make it easier to read. Don’t use colloquial language, this is a science project! Some concepts need to be explained more, e.g. E6-AP ubiquitin ligase. What is this, what does it do, why is it important etc, AMPA receptors, UBE3A ubiquitylation...
  • Ubiquitylation – need to explain what this is, it is not even in the glossary. I have no idea!!
  • Fix formatting between pathogenesis and signs and symptoms
  • Complications, related disease, treatment and management, prognosis, genetic counselling sections are incomplete, but I’m sure everyone else has said that.
  • Diagnosis – need to have consistent formatting between the diff techniques, i.e. are they bold, italic? First pic is too big, and one is broken.
  • Current and future research – some explanations seem like they should be earlier in the page, e.g. “Although everyone is born with two copies of the gene UBE3A, one maternal and one paternal copy, it is only the maternal UBE3A that is used in the brain. Most AS patients have a genetic mutation on the maternal chromosome 15 that results in dysfunctional UBE3A.[89] “ if this has already been said earlier (and I just missed it), then you don’t need to repeat it. Some pages have short summaries of good, recent papers on research, this looks good so maybe you guys could do this too?
  • Glossary – some terms are missing, like ketogenic diet. Just define ANY technical term, I think its better to have more than assume people know what something means when they don’t.
  • External links – put these in their respective places in the page, need a short sentence on what each is about
  • References – some are repeatd one after another, there is a way to condense it so its like 78.1, 78.2, 78.3 etc.
  • Good work overall, there is thorough research but some sections are still lacking.

Group 8 Friedreich’s ataxia

  • 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!

Group 9 – Williams Beuren Syndrome

  • Intro – don’t need the word ‘Ever’ at the beginning of the 2nd para
  • Intro/History – would look better if it was broken up with a picture or some colour. Maybe the timeline in a coloured table? Other groups have done this and it looks quite good.
  • Genetic factors – can you explain the picture you have used, refer to it in the text?
  • Diagnosis – should come after all the epidemiology, phenotype etc, just before specialised facilities I think? It is your project so do what you want, but I think that having it so close to the beginning is a bit funny. I think treatment should then come after the diagnosis.
  • Cognitive, behavioural and neurological phenotype – as each of these subheadings and the text in them come only from one research paper, perhaps refer directly to the researcher’s names and year in an intro sentence into each? I think it would be better than just putting in a reference number at the end.
  • Current Research – is it the WS Association or Foundation?
  • Glossary needs work, just define everything – don’t assume people know what everything means.

Group 11 Cleft Lip and palate

  • The intro is not an introduction. I suggest reading other pages to get an idea of what to write. What you have put in belongs in the epidemiology I think?
  • Timeline – doesn’t need its own headings, perhaps put in a table like other groups, it looks quite good that way.
  • In Diagnosis, you make a point of how you have to prepare the parents psychologically for the birth of their funny-looking baby – why is this such a big issue? I mean, yes, nobody wants a deformed (for want of a better word) baby, but you make a big deal of it and it is not clear why.
  • Developmental staging – reconsider the formatting/placement of text and pictures in this section.
  • Types of cleft lip/palate – you repeat in a paragraph what you have mentioned in dot points. Choose one and stick with that.
  • Genetic configuration section seems incomplete, may be better to have this section nearer the top. You also need to explain better the different genes/how they affect/what their mutation is.
  • Treatment – you just have a list of things, and have not explained any of them. You really need to do this, and put most of the terms in the glossary.
  • Current and future research has a lot to do, as well as the glossary.
  • Overall, you have a good start, but there is a lot of research and writing left to do. Make sure you explain the different concepts well, or at least put a definition in the glossary.