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Professional Development

Tel: +44 (0)117 32 81043, Option 1 for PD
followed by option: 1 for CHSS, 2 for CBAL or 3 for CATE

You can view, apply for and review your professional development courses here.

Medical Genetics

Course Details

Course/Module Code





23-24 Accredited 30 credits



23-24 Non-Accredited 30 credits



Course Dates

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All specialist subject modules on the BSc BMS programme have a 40:60 weighting of coursework to final exam.

The module will be assessed by a 3 hour examination under controlled conditions on the lecture material, together with two pieces of coursework designed to encourage extra reading beyond the lecture notes provided at the ethical workshops.

Feedback will be provided on all coursework and there will also be opportunity in tutorials to discuss student progress and understanding.

Details of the requirements for each component will be provided in the module handbook together with a marking criteria and mark sheet by which students can guide their performance.



Careers/further study

This module contributes to:

  • BSc(Hons) Biomedical Science
  • BSc(Hons) Healthcare Science (Life Science)
  • BSc(Hons) Forensic Science
  • BSc(Hons) Forensic Science (Biology).


The course syllabus for this level 6 (undergraduate level) module typically includes:

  • Mechanisms of genetic modification; DNA damage and repair mechanisms, cell cycle,epigenetics, imprinting, clinical conditions related to genetic modification.
  • DNA analysis - indirect and direct mutant gene tracking; techniques for demonstration ofDNA mutation/polymorphisms including PCR, MLPA, Sequencing etc. Chromosomeanalysis - karyotyping, FISH, etc; heteromorphisms; mitochondrial chromosomes;chromosome aberrations.
  • Gametogenesis - meiosis; spermatogenesis; oogenesis; fertilisation ; Lyonisation; sexdetermination and differentiation; genomic imprinting.
  • Inheritance modes of genetic disorders - autosomal and sex-linked; non-Mendelianinheritance - mutilfactorial - continuous and discontinuous; twin concordance, familycorrelation studies. Somatic cell disorders; mitochondrial disorders.
  • Clinical applications- genetic assessment, communication of advice, medical ethics;Prenatal diagnosis; population screening; prevention and treatment of genetic disease;gene therapy; Genetics of common diseases; Immunogenetics, cancer genetics,inborn errors of metabolism, RNA biology and alternative splicing, disorders of development.

Integral to the module will be a series of workshops on ethical aspects of genetic testing and manipulation, including consideration of cloning, preimplantation genetic diagnosis and "saviour siblings".

Course Director

Dr Chris Moore


On successful completion of this 30 credit Medical Genetics module, you will be able to:

  • Discuss chromosome morphology and classification.
  • Discuss the future potential of human genetics and its ethical dilemmas;
  • Identify the modes of inheritance of specific autosomal and sex-linked genetic disorders together with phenotypic findings;
  • Review the current molecular approaches to gene cloning, characterisation and mapping, and the mechanisms involved in disease pathogenesis;
  • Evaluate the various prenatal diagnostic tests in terms of the procedural approaches and types of abnormality that might be detected;
  • Outline the application of medical genetics to diagnosis, counselling and therapy of genetic disease;
  • Integrate principles of Mendelian genetics, cytogenetics, and molecular genetics with their clinical application in modern medicine.

For an applicant looking to top-up an undergraduate degree to obtain an Institute of Biomedical Science (IBMS) or Health and Care Professions Council (HCPC) accreditation, please refer to the Biomedical Science module top-up for IBMS/HCPC accreditation for more information.

Key Facts

Modules can be offered either individually or collectively if you have had your first degree evaluated by the IBMS and require further Top-up studies in order to complete the educational requirement for IBMS accreditation.

Learning and Teaching

The module will be delivered as mix of lectures and integrated tutorial sessions - with computer-learning support together with a student centred research exercise on genetic testing.

You will be expected to be independently engaged in further research indicated by the subject matter covered in the lectures and indicated by specific reading and reference lists; you will be expected to develop the content with self-directed learning.

Scheduled learning includes lectures, seminars, tutorials.

Independent learning includes hours engaged with essential reading, case study preparation, assignment preparation and completion etc. These sessions constitute an average time per level as indicated in the table below. Scheduled sessions may vary slightly depending on the module choices you make.

Study facilities

Find out more about UWE Bristol's facilities and resources.

Get a feel for the Health Professions facilities we have on offer here from wherever you are.


+44 (0)117 32 81158


BSc(Hons) Biomedical Top-up

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