Modiwl MSE-3017:
Medical Genetics

Ffeithiau’r Modiwl

Rhedir gan School of Medical Sciences

10 Credyd neu 5 Credyd ECTS

Semester 1

Trefnydd: Dr Ramsay Mcfarlane

Amcanion cyffredinol

Overall Aims and Purpose 1. To gain a good understanding of the basic science behind the discipline of Medical Genetics 2. To gain a good understanding of the technologies and diagnostic methodologies associated with Medical Genetics. 3. To gain a good understanding of post-genomics technologies and their application in medical diagnostics and therapeutics. 4. To gain a good understanding of the importance of the molecular biology of the cell in understanding biological systems associated with human health and disease. 5. To develop key skills in self learning in the field of Medical Genetics.

Cynnwys cwrs

This course will cover broad aspects of genetics which relate to medical technologies and diagnostics. It will cover relevant areas of basic human genetics. It will give the students an excellent grounding in human genomics and the new technology developments in human genomics which are leading to medical treatments and screening programmes based on the genetic make-up of individual genome profiles. In addition the students will be given experience in case studies of specific non-cancerous human genetic diseases and will employ a self learning exercise to get a deep understanding of the molecular and genetic basis for the aetiology of human genetic disorders.

Specific areas covered are:

(i) human molecular genetics in medicine; (ii) Post genomics and personalised genetics in medicine; (iii) basic genetics relevance to medicine; (iv) case studies into specific human genetic disorders.

Meini Prawf

C- i C+

Category C (50% - 59%):

A less engaged student should have a correct understanding of the essential facts, principles and clinical significance of key investigations presented in the module.

Written answers should demonstrate an ability to organise relevant lecture material into a coherent argument. The answer may lack explanation and context. No evidence of wider reading.

For the practical reports, the student must demonstrate a basic understanding of the aims and objectives of the experiment and be able to present and interpret the data in a satisfactory manner.

ardderchog

Category A (70%-100%):

An excellent student should have a thorough factual knowledge across all aspects of the module, integrated with a comprehensive understanding of the analytical principles and clinical significance of investigations presented in the module based on wider reading and critical analysis.

Written answers should demonstrate an ability to think critically about the subject and to synthesise lecture material and information from background reading.

For the practical reports, the student must additionally demonstrate ability to relate data to various clinical conditions, to critically evaluate the experimental data and have incorporated material into reports which has been gleaned from external sources.

da

Category B (60%-69%):

A good student should have a thorough factual knowledge across all aspects of the module, integrated with a comprehensive understanding of the analytical principles and clinical significance of investigations presented in the module.

Written answers should demonstrate an ability to think critically about the subject and to the synthesise lecture material.

For the practical reports, the student must demonstrate the ability to relate data to various clinical conditions, to evaluate the experimental data.

trothwy

Category D (40% - 49%):

A threshold student should have basic knowledge of the essential facts, principles and clinical significance of key investigations presented in the module.

Written answers should demonstrate an ability to organise relevant lecture material into a coherent argument.

For the practical reports, the student must demonstrate a basic understanding of the aims and objectives of the experiment and be able to present and interpret the data in a satisfactory manner.

Canlyniad dysgu

  1. On successful completion of the module the students will demonstrate an ability to follow experimental procedures for the investigation of genetic disease with interpretation and discussion in a written report.

  2. On successful completion of the module the students should be able to demonstrate a broad understanding of how insight into molecular mechanisms of living systems can be used to understand the aetiology of human disease and how it can result in the development of new clinically relevant tools / technologies.

  3. On successful completion of the module the students should be able to demonstrate a broad understanding of how post-genomics technologies can be applied to medical research and the developments in clinical medical genetics / molecular biology.

  4. On successful completion of the module the students should be able to demonstrate a broad understanding technologies used in the analysis of the human genome.

  5. On successful completion of the module the students should be able to demonstrate a broad understanding of diagnostic approaches used within the field of Medical Genetics.

  6. On successful completion of the module the students should be able to demonstrate a broad understanding of modern technologies associated with Medical Genetics.

  7. On successful completion of the module the students should be able to demonstrate a broad understanding of the basic science which underpins modern Medical Genetics

Dulliau asesu

Math Enw Disgrifiad Pwysau
ARHOLIAD Final Exam 60
ADDRODDIAD Disease Specific Report 40

Strategaeth addysgu a dysgu

Oriau
Lecture 16
Individual Project

Students will be set a self learning task based on a review style report. This will be centred on a single genetic disorder (of their choice).

22
Tutorial

There will be a group tutorial session at the end of the module. This will be used as an open session to revisit any aspect of the course that students feel requires more direct academic in-put. It will also cover previous exams and exam technique.

2
Private study 60

Sgiliau Trosglwyddadwy

  • Llythrennedd - Medrusrwydd mewn darllen ac ysgrifennu drwy amrywiaeth o gyfryngau
  • Rhifedd - Medrusrwydd wrth ddefnyddio rhifau ar lefelau priodol o gywirdeb
  • Hunanreolaeth - Gallu gweithio mewn ffordd effeithlon, prydlon a threfnus. Gallu edrych ar ganlyniadau tasgau a digwyddiadau, a barnu lefelau o ansawdd a phwysigrwydd
  • Archwilio - Gallu ymchwilio ac ystyried dewisiadau eraill
  • Adalw gwybodaeth - Gallu mynd at wahanol ac amrywiol ffynonellau gwybodaeth
  • Sgiliau Rhyngbersonol - Gallu gofyn cwestiynau, gwrando'n astud ar atebion a'u harchwilio
  • Dadansoddi Beirniadol & Datrys Problem - Gallu dadelfennu a dadansoddi problemau neu sefyllfaoedd cymhleth. Gallu canfod atebion i broblemau drwy ddadansoddiadau ac archwilio posibiliadau
  • Cyflwyniad - Gallu cyflwyno gwybodaeth ac esboniadau yn glir i gynulleidfa. Trwy gyfryngau ysgrifenedig neu ar lafar yn glir a hyderus.
  • Dadl - Gallu cyflwyno, trafod a chyfiawnhau barn neu lwybr gweithredu, naill ai gydag unigolyn neu mewn grwˆp ehangach
  • Hunanymwybyddiaeth & Ystyried - Bod yn ymwybodol o'ch cryfderau, gwendidau, nodau ac amcanion eich hun. Gallu adolygu ,cloriannu a myfyrio'n rheolaidd ar eich perfformiad eich hun ac eraill.

Sgiliau pwnc penodol

Biomedical Science benchmarks:

The programme aims to give students a comprehension of scientific investigation of medical genetics. (benchmarks: 5.1; 5.3; 5.5)

On successful completion of the course, students will be able to engage with essential facts, major concepts, principles and theories associated with medical genetics. (benchmark: 6.4)

Graduates will be able to apply their knowledge to a professional, evidence-based approach to research into the pathogenesis and origins of disease processes. (benchmark: 6.2)

Biomedical science graduates are aware of the current laboratory methods to investigate and diagnose human diseases in clinical and research environments. This includes an appreciation of research and the development of new technologies. (benchmark: 6.3)

Biomedical sciences graduates should recognise and apply subject-specific theories, paradigms, concepts or principles to reach evidence-based decisions. (benchmark: 4.2)

To be able to receive and respond to a variety of sources of information (textual, numerical, verbal, graphical), carry out sample selection, produce record scientific records & analyse data within a statistical context (an understanding of statistical significance and statistical power), and to communicate the outcomes to a variety of audiences using a range of formats, media and approaches including the avoidance of plagiarism. (benchmark: 4.4; 4.5)

Graduates should develop the skills necessary for self-managed and lifelong learning, have an appreciation for the role and impact of intellectual property, and identify and work towards targets for personal, academic, professional and career development. (benchmark: 4.7)

Additional subject specific skills not listed above.

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