Module MSE-4040:
Human Molecular Genetics

Module Facts

Run by School of Medical Sciences

20 Credits or 10 ECTS Credits

Semester 1

Organiser: Dr David Pryce

Overall aims and purpose

This module is designed to enable students to acquire Masters level knowledge and understanding of the molecules, molecular mechanisms and current theories of human molecular genetics. The module facilitates understanding of human molecular genetics, by contrasting and comparing 'normal' and 'diseased' states. The theories and information serve as a strong foundation for application of knowledge and understanding in the laboratory-based practical modules, more specialised theoretical modules and the research projects of the MEDMBG MSc degree program.

Course content

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 of 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

This module is available to International exchange students of The College of Human Sciences

To enhance learning and understanding, lectures and tutorials recorded for revision using the Panopto system

Assessment Criteria

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 relevant areas
  • Ideas/arguments are highly original

A+ Excellent

  • Exceeds expectations for some primary criteria
  • Complete command of subject
  • Ideas/arguments are highly original

A Good

  • Meets all primary criteria
  • Command of subject but with minor gaps in knowledge areas
  • Ideas/arguments are mostly original

A- 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

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 communication

Secondary Criteria

B+ Good

  • Exceeds expectations for most primary criteria
  • Command of subject but with gaps in knowledge
  • Some ideas/arguments original

B Mid-level

  • Meets all primary criteria
  • Strong factual knowledge and understanding
  • Ideas/arguments are well presented by few are original

B- 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

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 Criteria

C+ 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

Learning outcomes

  1. Demonstrate in-depth subject specific knowledge and understanding of human genome structure and organisation and modern molecular genetic analysis techniques

  2. 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

  3. Demonstrate in-depth subject specific knowledge and understanding of the roles of molecular genetics in development, diagnosis and prognosis of human diseases

Assessment Methods

Type Name Description Weight
EXAM Essay Examination
  • The Essay examination will take place in the end of semester 1 examination period.
  • The examination format will be to attempt 2 essay answers from a choice of 3 questions provided
  • All questions have equal weighting
  • Each essay answer should be approximately 1500 words
  • Past exam papers for the module can be accessed via the University Library. Search for MSE-4040.
  • It is estimated approximately 30 hours of notional effort time will be required for preparing and undertaking of the essay examination assessment
60
INDIVIDUAL PRESENTATION Poster Presentation
  • Students will choose a recent peer reviewed, primary research paper, on an area of Human molecular genetics.
  • Students will critically evaluate the paper and create a Scientific Poster based, on the paper, for presentation at a 'Scientific conference' session.
  • The Poster presentation should be as concise as possible and written/delivered in a style accessible to a broad scientific readership with no more than seven figures and/or tables. It should include introduction section, critically summaries of key results and findings, and proposals for further work.
  • Each poster/presenter assessment will take approximately 20 minutes, including time for questions
  • It is estimated 20 hours of notional effort time is required for preparation and undertaking the presentation assessment
40

Teaching and Learning Strategy

Hours
Seminar

Students will engage in a series of student lead seminars

  • Each student will choose 4 key areas, from the module lecture areas, to revise and self-research in further detail.
  • Students will indicate the reasons for their key area choices and this information will be used to collate lists of speakers for a series of 4 seminars.
  • Each seminar will consist of 4 - 10 minute seminar presentations with audience engagement in formative feedback, questions and key area discussions
  • Each student will deliver a maximum of 2 seminars within the seminar series
4
Work-based learning

Students attend a series of research seminars, presented by invited external speakers, to develop background knowledge and understanding and presentation skills relevant a preparing a scientific poster, for presentation at a ‘Scientific conference’ session.

3
Tutorial

1 x 1hr tutorial in first week of semester 1. - This tutorial will deliver information on the structure and organisation of the module and have a 'pop' quiz to gauge levels of subject specific knowledge and understanding of human molecular genetics

6 x 1hr tutorials, 2 per week for 3 weeks. - These tutorials will take place after delivery of the module lecture material and before the start of the student led seminar series. The tutorials will consist of class tutorials and individual 'drop in sessions'. Students will supply topics for discussion and review. Topics can be from any area of the module, including module revision, assessments, student-led seminar material and self-researched outside reading.

7
Lecture

2hr lecture sessions, 2-per week for 4-weeks of the module

16
Private study

Self-directed study to develop in-depth knowledge and understanding.

170

Transferable skills

  • Literacy - Proficiency in reading and writing through a variety of media
  • Numeracy - Proficiency in using numbers at appropriate levels of accuracy
  • Computer Literacy - Proficiency in using a varied range of computer software
  • Self-Management - Able to work unsupervised in an efficient, punctual and structured manner. To examine the outcomes of tasks and events, and judge levels of quality and importance
  • Exploring - Able to investigate, research and consider alternatives
  • Information retrieval - Able to access different and multiple sources of information
  • Inter-personal - Able to question, actively listen, examine given answers and interact sensitevely with others
  • Critical analysis & Problem Solving - Able to deconstruct and analyse problems or complex situations. To find solutions to problems through analyses and exploration of all possibilities using appropriate methods, rescources and creativity.
  • Presentation - Able to clearly present information and explanations to an audience. Through the written or oral mode of communication accurately and concisely.
  • Teamwork - Able to constructively cooperate with others on a common task, and/or be part of a day-to-day working team
  • Mentoring - Able to support, help, guide, inspire and/or coach others
  • Management - Able to utilise, coordinate and control resources (human, physical and/or financial)
  • Argument - Able to put forward, debate and justify an opinion or a course of action, with an individual or in a wider group setting
  • Self-awareness & Reflectivity - Having an awareness of your own strengths, weaknesses, aims and objectives. Able to regularly review, evaluate and reflect upon the performance of yourself and others
  • Leadership - Able to lead and manage, develop action plans and objectives, offer guidance and direction to others, and cope with the related pressures such authority can result in

Subject specific skills

Subject specific specialised knowledge and understating in key aspects of human molecular genetics, including aspects of -

  • 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: in human cells, the roles of RNA transcripts and the applications of RNA molecules in molecular medicine
  • Epigenetics and epigenetic regulation
  • Translation: regulation in human cells, protein structure and the roles and consequences of protein 'mutations'
  • DNA repair: Human cellular DNA repair mechanisms and applications in research and genetic engineering - such as recombinant DNA technology and CRISPR Cas9
  • 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

QAA Characteristics Statement Category 2: Specialised or advanced study master's MSc degree

Resources

Resource implications for students

All resources needed to complete this module are provided. Computers can be accessed in multiple locations across the university. All teaching materials will be available on Blackboard. Completed assignments will be uploaded onto Turnitin through Blackboard. A limited number of the recommended textbooks can be found within the library.

Talis Reading list

http://readinglists.bangor.ac.uk/modules/mse-4040.html

Pre- and Co-requisite Modules

Courses including this module

Compulsory in courses: