Human Molecular Genetics
Human Molecular Genetics 2023-24
North Wales Medical School
Module - Semester 1
Students undertaking MSE-4040 will enjoy presentations and discussions of current and cutting edge concepts, theories and research in key areas Human molecular genetics and 'omics'. Development of subject specific knowledge and understanding is facilitated through active participation in traditional interactive lectures, class and individual tutorials and via the opportunity for students to present short self-generated seminars, to fellow classmates and academics, and critically analyse current published research in a key area of Human molecular genetics or 'omics'.
MSE-4040 is a compulsory module for students studying the Medical Molecular Biology with Genetics MSc and the Genomics and Precision Medicine MSc, unless students have appropriate Accreditation of Prior Learning (APL).
MSE-4040 is an optional for students studying the MRes in Molecular Medicine or MSc in Biomedical Science
Topics may include:
- The Human Genome: structure, organisation and key principles of human molecular genetics
- Genome analysis techniques
- DNA replication: in vivo human genome replication and in vitro applications of DNA replication - PCR, RT-PCR, qPCR, ddPCR
- Transcription: human transcriptomes, roles of RNA transcripts, applications of RNA molecules in molecular medicine and Epigenetics
- Translation: human proteomes, the process and regulation of translation in human cells, protein structure and the roles and consequences of 'genetic mutation' in human disease
- Cell cycles: The human meiotic and mitotic cell cycles and the roles of cellular division 'checkpoints' in development, tissue homeostasis and disease development
- Cell signalling pathways: the mechanisms and pathways involved in human cell signalling, including cell development, differentiation, regulation of homeostasis, and development of disease
- Cellular ageing: the concepts of cell death and cellular senescence, mechanisms and results of programmed cell death pathways and the molecular aspects of
- Chromosome and DNA repair mechanisms and applications in research and genetic engineering, recombinant DNA technology and genome editing, the CRISPR Cas9 'systems'
To enhance learning and understanding, lectures and tutorials recorded for revision using the [Panopto system http://demo.hosted.panopto.com/Panopto/Pages/Viewer.aspx?id=22c80343-6d76-4897-a4ca-2aba23825b5f&__hstc=231909632.e27853f42ca4e0e56212d5cec3a4a123.1401833490769.1402501966808.1402505968645.16&__hssc=231909632.36.1402505968645&__hsfp=177871209
Assessment grade awards are calculated be determination of achievement level gained in 3 primary criteria.
Threshold (50% / -C) Criterion 1: Knowledge and Comprehension (Subject Specific Expertise) Understanding: The ability to use knowledge in particular, limited contexts, not the capacity to develop or interconnect knowledge Knowledge: The basic foundation of effective learning. Demonstration of knowledge requires and utilizes the powers of memory and recall. Knowledge represents a database of information; facts, principles, ideas and arguments.
Good (-60 / -B) Criterion 2: Analysis, Evaluation & Synthesis (Critical thinking) Analysis: The capacity to dissect information, arguments & ideas. The ability & confidence to stand back & look for logical consistency, completeness, relevance & usefulness. To discover & investigate the basic structure of an idea, reveal hidden meanings, problems & issues. Evaluation: The ability to come to judgments, based upon a critical review of available facts, information & views. The separation of evidence supported facts from unsupported opinions. The use of intellectual problem solving: the willingness, desire & ability to select from competing solutions by systematic evaluation of alternatives. Synthesis: The ability to build on the component parts of an idea or argument in order to develop further ideas. The capacity to engage in constructive, critical assessment of ideas & arguments & appreciate their implication. Originality: To demonstrate & convey ‘self-synthesized’ unique, arguments & discussions.
Excellent (-A / 70%) Criterion 3: Application and Presentation Grade (Transferable skills) The ability to draw upon, and use appropriately, a wide range of knowledge and skills to address questions and issues. The knowledge involved is in part factual, but also includes ideas, concepts, principles, technical expertise or theories Presentation: Written and/or oral and information technology (IT) skills. Indicators include such things as logical structure, coherence and clarity of expression, spelling and grammar, and the use of ICT and numerical data. Where appropriate, also requires that sources are acknowledged and properly referenced and the ability to work effectively as a member of a team.
- Demonstrate in-depth subject specific knowledge and understanding of human genome structure and organisation and modern molecular genetic analysis techniques
- Demonstrate in-depth subject specific knowledge and understanding of the molecular genetics of the 'Central Dogma', cellular homeostasis and the roles of human molecular genetics in development of 'normal' and 'diseased' states
- Demonstrate in-depth subject specific knowledge and understanding of the roles of molecular genetics in development, diagnosis and prognosis of human diseases
Poster Presentation Assessment component C1: Poster Presentation (40%) Poster presentation date: Students will present within academic week 16, Online via Teams
Exam (Centrally Scheduled)
The end of module examination will open over a specific time period during the end of semester 1 examination period. The exam itself will consist of completing 2 essay style answers of 1500 words maximum each, from a choice of 3 questions supplied. All questions will have equal weighting, 30% of the final module grade. Essay questions will be delivered in electronic format and a word document template with specific formatting must be utilised to complete and submit answers. All completed documents will be submitted to online databases for determination of originality and similarity. Feedback will be supplied via Turnitin, rubrics and text comments.