Human Molecular Genetics
Human Molecular Genetics 2022-23
School Of Medical And Health Sciences
Module - Semester 1
The first section of the module discusses organisation of the human genome, the principles of, and experimental methods utilised in, genetic and molecular analysis of human chromosomes, in vivo and in vitro DNA replication, gene transcription and RNA transcripts, mRNA translation and the roles of non-coding RNA molecules and transcripts.
The second section of the module progresses to discuss the molecular mechanisms and regulation of cell signalling mechanism, the mitotic cell cycle, cellular ageing and Programmed Cell Death pathways.
Topics included in lectures, seminars, study groups work-based learning and tutorials
- The Human Genome: structure, organisation and principles of genetics
- Molecular genetics and genetic analysis techniques
- DNA replication: in vivo human genome replication and in vitro applications of DNA replication - PCR, RT-PCR, qPCR, ddPCR
- Transcription: the roles of RNA transcripts, applications of RNA molecules in molecular medicine and Epigenetics
- Translation: regulation in human cells, protein structure and the roles and consequences of protein 'mutations'
- Cell cycles: meiosis and the mitotic cell cycle and 'checkpoints'
- Cell signalling pathways: mechanisms and pathways involved in human cell development, differentiation, regulation of homeostasis, and development of cancer
- Cellular ageing, programmed cell death pathways and the molecular aspects of cancer development DNA repair: Human cellular
- DNA repair mechanisms and applications in research and genetic engineering - recombinant DNA technology and CRISPR Cas9
To enhance learning and understanding, lectures and tutorials recorded for revision using the Panopto system
-threshold -Pass (C- to C+) (range 50-59%)Primary criteria A threshold student demonstrates knowledge of key areas & principles, and understands the main elements of the subject area, although gaps and weaknesses in the argument are evident. No evidence of background study and wider reading. Answer focussed on question but also with some irrelevant material and weaknesses in structure & argument. Answers have several factual/computational errors. No original interpretation. No links between topics are described. Limited problem solving skills. Some weaknesses in presentation accuracy & delivery.Secondary CriteriaC+ Good within the class - Exceeds expectations for some primary criteria - Strong factual knowledge with some weaknesses in understanding - Ideas/arguments are limited but are well presented C Mid-level - Matches all primary criteria - Moderate factual knowledge with some weaknesses in understanding - Ideas/arguments are limited presented with weaknesses in logic/presentation C- Meets requirements of class - Matches most but not all primary criteria - Moderate factual knowledge with several weaknesses in understanding - Ideas/arguments are limited presented with weaknesses in logic/presentation -good -Merit (B- to B+) (range 60-69%)Primary criteria Good students demonstrate strong knowledge & understanding of most but not all of the subject area. Limited evidence of background study. The answer is focussed with good structure. Arguments are presented coherently, mostly free of factual/computational errors. Some limited original interpretation. Well know links between topics are described. Problems are addressed by existing methods/approaches. Good presentation with accurate communicationSecondary CriteriaB+ Good - Exceeds expectations for most primary criteria - Command of subject but with gaps in knowledge - Some ideas/arguments originalB Mid-level - Meets all primary criteria - Strong factual knowledge and understanding - Ideas/arguments are well presented by few are originalB- Meets requirements of class - Meets most but not all primary criteria - Strong factual knowledge with minor weaknesses in understanding- Most but not all ideas/arguments are well presented and few are original -excellent -Distinction (A- to A) (range 70-100%)Primary criteria Comprehensive knowledge & detailed understanding. Clear evidence of extensive background study & originality. Highly focussed, relevant and well structured answers. Arguments logically presented and defended with evidence and examples. Excellent presentation skills with very accurate communication.Secondary Criteria*A Outstanding - Exceeds expectations for most primary criteria - Complete command of subject and other relevantareas - Ideas/arguments are highly originalA+ Excellent - Exceeds expectations for some primary criteria - Complete command of subject - Ideas/arguments are highly originalA Good - Meets all primary criteria - Command of subject but with minor gaps in knowledgeareas - Ideas/arguments are mostly originalA- Meets requirements of Class - Meets most but not all primary criteria - Complete command of subject but with some gaps in knowledge- Ideas/arguments are mostly original
- 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
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.