From Embryology


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Lab 1

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

The first successful IVF occurred in the UK in 1978 and Robert G. Edwards was awarded the Nobel Prize for this technique in 2010.Lecture - 2011 Course Introduction

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

"Improved pregnancy rate with administration of hCG after intrauterine insemination: a pilot study" by Ilkka Y Järvelä, Juha S Tapanainen and Hannu Martikainen. Published on 23 February 2010 by Reproductive Biology and Endocrinology journal. They found that Intrauterine insemination (IUI), a common fertility treatment, improved pregnancy rate when hCG (human chorionic gonadotrophin)was administered after instead of before IUI. Pregnancy rates were 10.9% when hCG was given before IUI and 19.6% when hCG was given after IUI.[1]

3. Identify 2 congenital anomalies.

-Trisomy 21 (Down Syndrome) occurs when an extra copy of chromosome 21 is present

-Myelodysplasia (Spina bifida) is a condition where the fetus' spin fails to close in the first few months of pregnancy

--Mark Hill 10:10, 3 August 2011 (EST) These answers are fine.

Lab 2

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

The ZP protein that spermatozoa binds to is ZP3, when this occurs an Acrosome Reaction results where the head of the spermatozoa releases enzymes from the acrosomal vesicle (via exocytosis) which digests this protective coating of the egg (ZP3)[2] and exposes ZP2 to surface proteins of sperm Lecture - Fertilization

2.Identify a review and a research article related to your group topic.


PLoS One. 2010 Apr 21;5(4):e10292. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR. Source

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.

Abstract Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

PMID:20422020 [3]

  • Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)
  • Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines
  • STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.
  • Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.[4]


Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18. [Williams-Beuren syndrome: a multidisciplinary approach]. [Article in French] Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Source

Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France.

Abstract Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

PMID:19097873 [5]

Lab 3

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

Iodine is an important maternal dietary requirement for late neural development as a severe deficiency of this mineral during pregnancy seriously influences fetal brain development and in the worst case leads to cretinism, a decreased thyroid hormone production that has multiple complications. Recent studies have shown that even a mild iodine deficiency during pregnancy and during the first years of life adversely affects brain development. The World Health Organisation (WHO) considers iodine deficiency as the most common preventable cause of early childhood mental deficiency.[6] [7]

2. Upload a picture relating to you group project. Add to both the Group discussion and your online assessment page. Image must be renamed appropriately, citation on "Summary" window with link to original paper and copyright information. As outlined in the Practical class tutorial.

Differentially expressed RefSeq genes in human trisomy 21

Distribution of quantitative transcription of genes deleted in WS

Lab 4

1. The allantois, identified in the placental cord, is continuous with what anatomical structure?

The allantois of the placental cord is an extra-embryonic membrane, that originates from the endodermal layer of the trilaminar embryo and extends from the early hindgut. Placenta Development

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

  • Ductus venosus - between the umbilical vein and the inferior vena cava
  • Foramen ovale - between the right and left atrium
  • Ductus arteriosus - between the pulmonary artery and descending aorta

These shunts redirect oxygenated blood away from the lungs, liver and kidneys as these major organ's functions are run by the placenta at this point of the fetus' development Intermediate - Vascular Overview

3. Identify the Group project sub-section that you will be researching


History of the disease



Genetic Factors

Physical Characteristics

Associated medical conditions

Cognitive, Behavioural and Neurological Problems



Specialized Facilities/ supportive associations

Case studies

Interesting facts

Current research and developments

Lab 5

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

Approximately 70 to 90% of Diaphragmatic hernias are 'Bochdalek-type,' or posterolateral hernias, most often occurring on the left posterolateral side. This is because the left pleuro-peritoneal canal is larger than the right, and therefore closing of this side occurs slightly later, hence more chance of hernia occurring on this side. [8] [9]

Lab 6

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

The palatal shelves fuse in week 9 of development. This process requires the a growth and elevation of the palatal shelves before fusing in the midline Lecture - Head Development

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

Chicken embryo model. Neural crest development has been best studied in avian embryos as they can be subject to "surgical manipulation, cell marking techniques, cell culture, and transgenesis by electroporation and retrovirally mediate gene transfer" [10]

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

Cranial neural crest cells extending from the auditory placode to somite 3 migrate to the outflow tract of the heart to participate in aorticopulmonary and truncal septation in the chick embryo. Surgical removal of these premigratory cells results in a high incidence of persistent truncus arteriosus [11] Failure of the outflow septum to form results in persistent truncus arteriosus, a condition in which there is a single outflow vessel with a single valve. [12]

Lab 7

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

Satellite cells are generally involved in muscle hypertrophy but they are not necessary

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

Chronic Low Frequency Stimulation (CLFS) is a standard, reproducible model of muscle training that parallels the stimulation of slow-twitch muscles by slow motoneurons. This artificial type of nerve innervation induces the sequential transitions in myosin heavy chain (MHC)expression, ultimately resulting in the transition of fast twitch to slow twitch fibres. [13] Fast-to-slow fibre-type transitions are associated with increases in satellite cell activation, content and fusion to transforming fibres. CLFS stimulates satellite cell proliferation and hence causing a fast to slow fibre type shift. [14]

Trisomy 21 Peer assessment

  • hyper-link words to glossary is useful, this should be done for Aneuploidy instead of listing it in the intro
  • Down Syndrome is the historic name used for this condition identified by Down, J.L.H. in a 1866 paper[1] where he described the "phenotypic features that includes mental retardation and characteristic facies". --this sentence could be incorporated in the opening paragraph so intro can flow better
  • Maybe recent findings could go toward the end, just so we get more of an idea of what the features of Trisomy 21 are first, also quotes directly from the article shouldn't be the main focus of this section, it would be better to summarise the findings in your own words
  • Some of the images need to be referenced properly, some contain no copyright clearance statement
  • More info needed for Associated Congenital Abnormalities section, not just a list
  • heart defects section has not been referenced, where have the figures come from?, more description of these conditions are needed not just the definition, maybe include what how this abnormality is manifested, also percentages could be better displayed in a table, the same could be done for the limb defects section
  • Image of John Langdon Down appears to be in an odd place, should go around intro when he is mentioned
  • Prevalence could appear toward the beginning, the definition of prevalence could also be a hyper-link to glossary instead of including it in the body of project, might want to include the prevalence of down syndrome in Australia, this may be better formatted in a table
  • American College of Obstetricians and Gynecologists Recommendations section has some good information, however, it may be better to put this under a broader subheading (e.g. management/or diagnosis) maybe a good idea to combine it with Down syndrome screening
  • Screening could also be better formatted in a table with a little more description about how these screenings are conducted
  • Miosis I and II shouldn't really be a heading on its own, maybe better to incorporate it with recent findings.
  • Aneuploidy also should not be a heading on its own this can be included as a glossary term
  • Again a whole section dedicated to growth charts doesn't seem right, good info but could be incorporated into a broader heading
  • I also feel there's info missing from the page, like maybe some the physical characteristics of Trisomy 21 i.e facial abnormalities
  • reference list: i like the idea of splitting up the different kinds of sources used, however this needs to be refined as it is a bit confusing

Lab 8

Peer Assessments

GROUP 1: Turner Syndrome

  • Introduction is informative and well summarised, however a few sentences are a bit lengthy and can be better structured so paragraphs flow easily. e.g. "It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term." can be better structured. In addition there are several spelling mistakes that are distracting e.g. "The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome" - this sentence doesn't make sense at all
  • You may also want to incorporate an image to break up the text in the intro
  • One of the requirements for the group project is to include the history of the disease, the intro contains very minimal background information but besides this there's no evidence of research into how this disease was discovered and developments in its understanding
  • The image beside epidemiology is obstructing the break up of the introduction and epidemiology, you may want to fix this. This image may also be better if made a little bigger
  • The prevalence is repeated in both intro and epidemiology, maybe just mention it in just one section
  • Epidemiology info is very informative but really needs to be proof read, this lets down the whole section. Some of the sentences contain spelling mistakes and grammar needs to be reviewed e.g. "The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome" and "Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome"
  • "The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder." - sentences like this need to be fixed to make more sense
  • Some sentences are also very abrupt and short, could be revised so they flow more
  • The Karyotype image is incorrectly referenced and does not contain the copyright clearance statement, this needs to be fixed
  • The abnormalities graph really needs fixing, not correctly referenced, no copyright clearance statement and title isn't very descriptive
  • I really like how the words relevant to this syndrome are linked to the glossary, this really helps the reader, saving us from having to scroll down to the bottom of the page. This could be applied to the whole page
  • The non-disjunction image is informative but needs to be properly referenced
  • The info in etiology is very informative and comprehensive, but again grammar is a problem e.g. "When an uneven distribution is such that one of the gametes does not have any of a chromosome" -consider revising this sentence
  • The image 22+23=45 could be better placed so that it doesn't overlap into the next section
  • The clinical manifestations section has an extensive list, but could be improved by maybe having a paragraph or two describing these not just a link to a reference, an image of some of these manifestations may also enhance this section
  • The diagnosis section has a good balance of text and image and there is great use of tables. Also the links to the glossary again is helpful
  • maybe consider making the images in the table a little smaller
  • Student drawn images are included and comprehensive
  • Treatment and research sections are succinct and informative, easy to go through
  • I really like the way the glossary is formatted, makes it very easy to access
  • The extensive reference list is impressive and indicative that a lot of research has gone into this page

Over all:

  • There really needs to be thorough proof reading to correct grammar, better structure your sentences, and generally make better sense of some sentences, this particularly applies to epidemiology section
  • You should also fix the referencing of the images, copyright statements are missing

GROUP 2: DiGeorge Syndrome

  • I don't know if the congenital disorder definition is needed in the intro, maybe you can included in the glossary instead
  • The image in the intro could use a legend
  • Info in the intro is comprehensive and informative
  • History section has got good, succinct information and i like the fact that it goes up to 2011, however maybe you can consider putting the timeline in a table. Image could also have a legend
  • Epidemiology has been researched relatively well, info is comprehensive and flows well, however, could be improved with a graph of some sort to accompany info with a visual
  • Etiology contains very descriptive, informative info, could be improved with an image of the chromosome and the area of deletion
  • It would be a good idea if the acronyms are included in the glossary
  • It is evident that the Pathogenesis/Pathophysiology section has been very well researched, maybe the "genes involved in DiGeorge syndrome" section could be formatted in a table
  • The use of a table in Diagnostic tests is succinct and informative. You should check for spelling mistakes (Dianostic Tests is spelt wrong), images to accompany these tests are useful, however, again a legend for each of these would be help
  • Image missing in the Amniocentesis part of diagnosis
  • I don't know if the image link for BACS- on beads technology is really helpful
  • Clinical manifestations has clearly been researched extesively, however, this section is very overwhelming,too much text in my opinion. It would be easier to read if it was summarised more, a graph may be helpful
  • Treatment section is comprehensive and summarised well
  • I have found that incidence has been mentioned in quite a few sections, is this really necessary? Can it just be mentioned in epidemiology?
  • Current and future has got some good info but it is quite lengthy and could be better to summerise it a bit more so u don't lose the reader
  • The last two images need to be referenced properly, with the template and correct referencing


  • The whole project has been researched very well
  • Some of the images could use legends to describe what they are about and you could also consider moving the images around a bit so there's variety and making some of them a little bigger so their features can be seen
  • Maybe acronyms could be included in the glossary
  • some sections could be reviewed and info could be condensed
  • references need to be reviewed and correctly structured (some work on this is required)
  • You could improve this project by also linking the glossary terms to the text to make it easier to access, also some graphs could be used

GROUP 3: Klinefelter's Syndrome

  • I feel that the introduction is too lengthy, it should be summarised a little more. Although the info is informative, its structure needs some work- grammar and punctuation should be reviewed and sentence structure could be improved
  • Figure 1 could use a more descriptive legend
  • Historical information is ok, maybe could be improved by extending the timeline to a more resent years, also an image wouldn't hurt, just to break up the text a little
  • epidemiology could use some proof reading to correct minor grammar mistakes e.g. "Males born with Klinefelter syndrome often fail to produce sperm, and have very low testosterone levels due to largely to them having small testes", sentence structure could also be reviewed so this section flows better (some sentences are short, but other than this, this section is informative
  • Incidence is repeated twice, maybe could stick to one section, and it's different in each section (1 in 50 000 or 1 of every 1000 male births?)
  • Aetiology (don't really know what this means), and the subheading "genetics" could be a better choice for the whole section, but info here is informative and understandable
  • I do like the links made in Aetiology, the picture in this section could use a better legend and needs to be referenced properly (no copyright statement?)
  • There is overlapping info in the Aetiology and Pathogenesis sections (both have Non-disjunction as subheading), and both have the same sort of images
  • Table in signs and symptoms is too small should be a lot bigger so detail can be seen, it also needs to be referenced properly
  • The info for signs and symptoms is good in a table, but it would be better if the table had colour so the reader can distinguish each section of the table
  • diagnosis is informative


  • Reference list needs some work, some of the references have been repeated
  • Project could be improved by finalising the glossary and maybe linking the words in the body to the glossary itself
  • Images need to be referenced properly and some need more informative legends
  • I feel some of the information is a little repetitive, maybe could read through and edit so it flows better
  • subheadings and headings could be reviewed and re-organised so page flows better
  • I do like the feature of links added throughout, maybe more would make it better

GROUP 4: Huntington's Disease

  • Intro has good summary of the disease, however the first paragraph is a little too technical, could you maybe simplify it a little so you don't lose the reader right at the start (reference 5 is missing though)
  • History is succinct and summarised well, i like the quote included, could you have gone a little further with the timeline? (maybe include some of the more recent developments), maybe the timeline could be better formatted in a table
  • Good info from a variety of sources in epidemiology, good use of tables, I like how prevalence has been compared and how the table is explained (one little thing: could you maybe find more statistics for Australia?)
  • Inheritance image needs student template added and maybe made a little bigger so detail can be seen
  • Genetics section is informative but could use an image of the gene maybe
  • Molecular Mechanisms & Pathogenesis section is well researched and good summary is provided. I like how key words have been highlighted. images need fixing (more descriptive legend is needed for the first image and what happened to the second image?
  • I don't think you need to explain what the disease is again in the clinical manifestation segment (don't want to sound repetitive), image in this section isn't very clear, I feel that this section is a tad incomplete-maybe some expansion is needed e.g. classes 2 and 3 could be expanded on more
  • I feel that diagnosis section could go further up? This section is very informative, but could be summarised a little more Some of the images in this section need better explaining, good balance of text and images in this section
  • good use of table in treatment section, however more info could be provided as to how these drugs help the disorder
  • Current/Future Research is very up to date, images here again need more description


  • it is evident that this project has been extensively researched
  • good use of subheadings and headings
  • maybe include the acronyms in the glossary and it would be good if glossary words were linked to text
  • make sure all images include the student template required and legends of some images need to be expanded (more info on what the image is about)
  • fix repetitive sentences
  • good balance of images and text, good use of tables

GROUP 5: Fragile X Syndrome

  • Info in the intro is ok but could be improved by maybe including more of an explanation of the CGG codon (some may not know what a codon is and what this implicates) and a small sentence on FMR1 gene
  • The placement of the two images in the introduction is a bit weird, it disrupts the end of this paragraph. Consider just putting them on the same side or putting one of them in a different section
  • I don't think the first sentence of the history section is history related, looks like it could be better placed in the intro
  • Timeline is ok but could possibly be researched more to include more dates, but it's good that it goes up to 2010
  • I don't know if Screening/Population testing goes under epidemiology, i think it's more part of management/diagnosis
  • Etiology info appears clear and concise, maybe the image of the gene would be better placed in this section
  • I find the section development of disease informative and summarised well. I like the way it's structured (subheadings are fitting), an image could improve this section
  • Signs and symptoms looks like its been researched extensively, info is comprehensive and summarised well, a graph or another image could improve this section and balance out the text
  • Physical phenotype has no referencing (where did this info come from?)
  • Diagnosis is very underdeveloped, a lot more explanation is needed for these diagnostic techniques, images could also help improve this section
  • Treatment is well researched, use of a table here is suitable, however maybe you could break up the writing by splitting up the Treatment Option and Description into two different sections of the table
  • Recent Research is ok, a good intro paragraph may improve this section, maybe provide more recent developments


  • Glossary is incomplete and many words need explaining, consider linking the highlighted words to the glossary as an improvement, also it might be a good idea to include acronyms in the glossary as well
  • legends of images could be expanded a little more
  • Reference list needs some work, I don't think links to websites are the proper way to reference

GROUP 6:Tetralogy of Fallot

  • Info in the intro is succinct and informative but sentence structuring and punctuation lets this down e.g. "These genetic mutations contribute to the four characteristic defects, in the heart of a patient having TOF" - comma is misplaced here
  • "disease that occurs in 3 in every 10000 live births" -consider rephrasing this
  • Intro needs an image to draw attention of reader
  • While I appreciate the sectioning of the history section, i think that a chronological timeline may be more comprehensive for the reader, I feel that some of the dates are all over the place, also the history of this disease seams to stop at 1950s, could you maybe find more recent findings or contributions
  • History images are good but need to be properly referenced and student template is missing from the first image
  • I feel epidemiology section is a little underdeveloped, could you possibly find some more stats and compare incidence in several countries?
  • Signs and symptoms has good info, but i feel that some sections could be expanded more
  • signs and symptoms could use more images to accompany info
  • I like the audio links to the heart signs
  • Genetics/Aetiology section looks like it has been thoroughly researched, i like the structure of how each gene is dealt with, however, this info could be better formatted in a table and summarised a little more (if you are going to include all this technical info make sure it's explained in glossary maybe), also images in this section need better descriptions in the legends
  • Pathophysiology and Abnormalities (I'm not sure if this is the best heading, could maybe be associated conditions or associated abnormalities or even just Cardiac abnormalities), info here is good but could be expanded a little more seeing as cardiac abnormalities seem to be a major manifestation of this anomaly
  • Diagnostic tests section could be better placed further up? appears to have some info missing, and in some parts too much text, maybe could be summarised a little. Images could help break up the text, use of a table here is suitable but colour for the side headings could make it stand out a bit more. Referencing really needs to be fixed for this section
  • Treatment and management is well researched, however Palliative Procedures could use more referencing esp. at the beginning. Table included is good but could be improved with colour and sectioning
  • Prognosis has good inf but lacks referencing


  • More images are needed to balance out text
  • Reference list needs work, don't think it's sufficient to just provide links to websites
  • proof reading is needed to fix spelling mistakes, grammar issues and general sentence structure
  • Glossary needs finishing, consider linking glossary words to the text and adding any acronyms used
  • referencing of some images need to be fixed and student templates are missing in some

GROUP 7: Angelman Syndrome

  • Intro is very succinct and to the point, could use an image here to grab attention of the reader
  • History has been fairly well researched few minor adjustments to sentence structure could be made to make it flow better, an image could also help enhance this section
  • "However it was only when he stumbled upon an oil painting called ‘a Boy with a Puppet” while on a holiday in Italy he was able to connect the symptoms" -sentence could be restructured to flow better
  • timeline in well formatted in a table, however i feel that more could be added and "current" isn't a year, could you maybe include a year for when these four different genetic abnormalities for AS were confirmed and maybe include what these are
  • Epidemiology and Aetiology look like they could use some more info. In Aetiology, more info on the genes would be helpful, like what they're responsible for and their implications
  • Most of the first paragraph of Pathogenesis could be better placed in history section, image in this section is way too big and it's description could be better placed (more closely associated with it)
  • The legend for the graph in pathogenesis shouldn't really include the link to the source
  • Table in signs and symptoms is a bit confusing, doesn't really indicate where it starts and stops, no margins
  • diagnosis is very detailed and very informative, i feel like the images, while good, disrupt some of the text (too many gaps created) and so info doesn't flow well, maybe reformat them and make them smaller (maybe make the first one a thumb)


  • general formatting of some images needs to be fixed, some of them are too big, interfere with the flow of some section's text, some images need to properly be referenced

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

GROUP 10: Duchenne Muscular Dystrophy

  • Title of the whole page should just be Duchenne Muscular Dystrophy, not Introduction...
  • The intro is very descriptive and comprehensive
  • Image in intro needs proper referencing
  • consider rephrasing this sentence "In DMD the protein dystrophin is not produced, when it is an important structural component for muscle tissue during contraction"
  • History has good info, but could this be better formatted in a table? this section is text heavy and could maybe use an image, it also could be extended into more recent years
  • Epidemiology is summarised well and contains good statistics
  • I feel that Aetiology - Genetics section has good info, easy to understand and informative but maybe it could be researched a little more
  • General Signs and Symptoms of Duchenne’s Muscular Dystrophy section needs a lot more work, the list of symptoms i don't feel is enough, more expansion on these is needed. An image would improve this section too
  • "diarrhoea&&&." -this needs to be fixed


  • More images are needed to break up the text
  • glossary needs a bit more work, consider linking glossary words to text
  • I feel that the page overall needs some more work, some sections are lacking content
  • Proof reading to fix grammar and sentence structure

GROUP 11: Cleft Palate and Lip

  • Introduction i feel needs more content, too short. more referencing is needed
  • History could be better formatted in a table
  • diagnosis is well researched , good use of tables
  • Syndromes and Anomalies associated with cleft section needs to be completed, good information so far, however conditions could be described more
  • Development has good info but really needs more referencing
  • I feel more description is needed for Types of Cleft Palate/Lip
  • Current and Future Research should be explained more
  • Neuroembryology and functional anatomy of craniofacial clefts has very detailed and informative info


  • ok balance between text and images
  • headings could be better placed
  • some images could be better placed so text isn't disrupted
  • glossary needs to be finished, and you could improve this by linking the glossary term

Lab 10

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

The Rubella Virus has a teratogenic effect that causes an array of congenital malformations including Perceptive or sensorineural deafness [15]

2. Identify 3 factors that contribute to poor neonatal drainage of the middle ear.

The Eustachian/auditory tube that connects the middle ear to the nasopharynx, is short, narrow and runs almost horizontal at birth. These 3 factors contribute to poor neonatal drainage of the middle ear. Lecture - Sensory Development

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)

Pendred syndrome, the most common syndrome that causes deafness. It is associated with developmental defects in the cochlea and sensorineural hearing loss. OMIM entry 274600:PENDRED SYNDROME; PDS

Lab 11

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

The septum primum is formed from out growth of membranous tissue from the roof of the atrium, it originates from myocardium which differentiates from the splanchnic mesoderm. The strong, muscular septum secundum grows immediately to the right of the septum primum and develops from left-sided mesenchyme. Intermediate - Atrial Ventricular Septation

The passages that connect the right and left atria are: the foramen secundum, which is the opening of the septum primum and the foramen ovale, the opening of the septum secundum. [16]

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

  • Pulmonary stenosis
  • Transposition of the Great Vessels
  • Aortic Stenosis
  • Coarctation of the Aorta
  • Interrupted Aortic Arch

Advanced - Abnormalities

Lab 12

1. Give examples of 3 systems that continue to develop postnatally.

Three systems that continue to develop postnatally include:

  • Respiratory system- with the maturation of alveoli
  • Nervous System- with the continued growth of the brain
  • Urinary system- Maturation stage of nepheron continues postnatally

2. Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM.

The abnormalities detected by this test include: