BS3570 Human Embryology Assignment Brief | RHUL and Holloway

BS3570 Aims:

To generate a reasoned hypothesis explaining how a genetic defect leads to the developmental defect, for ONE of these defects:

• Iris Coloboma
• Preaxial Polydactyly
• Ventricular Septal Defect
• Hyperdontia

Learning Outcomes:

Module Learning Outcomes that are addressed by this assignment:

By the end of the module students should be able to:

• explain key aspects of human embryology, in terms of the morphological and cellular basis of changes that occur; 
• describe the key molecular pathways involved in embryology, and discuss how the functions of these pathways relate to human development; 
• describe the types of birth defects that can arise, and recognise the importance of different tools to help investigate normal development and the causes of defects;
• read, interpret and synthesise primary and secondary literature relevant to thesubject matter and demonstrate innovative thinking to generate an hypothesisto link a genetic defect to a specific developmental phenotype.

Programme Learning Outcomes that are addressed by this assignment:

Graduates from this course will: 

• demonstrate KNOWLEDGE and CURIOSITY
• demonstrate PRACTICAL SKILLS and RISK AWARENESS
• be able to DESIGN EXPERIMENTS AND ANALYSE DATA
• demonstrate RESEARCH SKILLS and the ability to EVALUATE LITERATURE
• demonstrate PROFESSIONAL SKILLS AND BEHAVIOURS
• demonstrate COMMUNICATION SKILLS and DIGITAL LITERACY

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BS3570 Detailed requirements:

1– Briefly outline the nature of the defect and briefly review its causes

Give the clinical characteristics of the particular defect you’ve chosen (in other words, how do patients look, or how is it recognised?). How common is it? What is thought to lead to this defect, in terms of genetic abnormalities and/or teratogenic risk factors? (You will need to identify one genetic cause to write about later)

2 – Explain how the genetic defect leads to the developmental defect

Starting from just ONE genetic cause, explain how that genetic defect causes the birth defect. You need to provide an explanation that takes us through multiple levels: from the molecular function of the gene, through the cellular effect of the protein, to the role in the developing tissue, and therefore to why disrupting this gene leads to the defect that is observed.  You will need to include information about the normal developmental process in order to then explain how that process is disrupted to lead to the observed defect.

Further notes:

The ‘link’ from gene to defect is the most important part of your essay! This part will require you to think for yourself! You may well not find “the answer” written out anywhere, but you need to develop “an answer” that provides a reasonable explanation for why disruption of that gene leads to that particular defect. There may be more than one possible explanation: you need to provide a well-reasoned hypothesis that is supported with evidence from the literature. Include evidence such as where the gene is normally expressed; what is known about the function of that protein (or similar proteins); how disrupting that cellular process might lead to the developmental defect. Is there any evidence from another gene disruption – or perhaps even a teratogenic factor – that backs up your ideas? You will need to explain the normal process of development in order to then explain what goes wrong; focus on the particular structure that’s affected in the disorder. You will need to give some information at the molecular level as to how the gene you’ve identified is normally involved in the developmental process, in order to explain why disruption of that gene leads to the particular phenotype (disorder) seen.

The idea of this assessment is to get you to read, learn and think about the developmental process and to learn more about an organ or developmental process that is not taught about in the lectures. You can use evidence from studies in other organisms (particularly mice) to help back up your ideas.

It is a really good idea to include useful figures/diagrams to help explain things. You don’t need to create these yourself, you can use figures from published articles – but please remember to cite and reference them appropriately. Please also give meaningful figure legends (and these will count towards the word limit). You must also refer to the figures in the body of your text.

Please explain medical terms: I want to know that you understand what you write! Use italics when referring to a gene, mRNA or mutant; use non-italics for proteins. Please submit your work as a PDF file, as that helps to avoid formatting problems. But please also check your submission to make sure it does not have formatting problems, and to double-check that you submitted the right document!

Ensure you keep a copy of draft documents; in case of any question over whether you have completed the work yourself, your previous versions of your essay (and the version history) will be very important. Also ensure you note down your prompts when using AI, and record the output obtained.