Professional/Short course Medical Genetics

Structure

Content

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".

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 time

You will meet staff weekly for a two hour lecture on the scheduled topic. Extra workshops will be provided to cover the ethical aspects and these will cover the underpinning genetic techniques and limitations that contribute to the ethical dilemmas. Presentation sessions will allow you to engage with the issues surrounding genetic testing and will be explored in a class setting with the input of staff members.Research material from group presentations will be loaded onto Blackboard for knowledge exchange and to contribute to learning.You will be able to attend MSc tutorials and conference week by choice if you wish to expand your knowledge of genetics applications.

Assessment

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 three 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.