Module Catalogue 2024/25

Pre Requisite Comment

N/A

Co Requisite Comment

Students wishing to graduate with MRes in Medical Genetics must undertake the present module (compulsory for this programme) and one other from the list below and complete a project in Medical Genetics:

MMB8014 Genetics of Common Disease

MMB8031 Developmental Genetics

All other MRes students may enroll on this module.

Aims

The primary aims of the module are as follows:

1. to consolidate knowledge of genetic information processing and inheritance patterns of human genetic disease

2. to introduce the wide variety of mutational mechanisms underlying disease phenotypes, and the detection mechanisms used to identify them

3. to introduce high throughput mutation detection techniques and in silico representations of human genome data

4. to introduce the dynamics of clinical consultations and develop an understanding of ethical and confidentiality issues within this setting

Outline Of Syllabus

The module will consider:

•       information processing within the cell

•       Epidemiology of heritable disease and patterns of inheritance using clinical examples.

•       Chromosome analysis including antenatal diagnosis.

•       Molecular diagnostic techniques including next generation DNA sequencing and mutation scanning.

•       Genome browsers and gene specific PCR assay design

•       Unusual patterns of inheritance - Imprinting, Mosaicism and Mitochondrial disorders, Unstable repeat disorders.

•       Genomic Disorders and techniques for copy number detection.

•       Cancer Genetics: Hereditary vs. sporadic cancer.

•       Clinical Consultation skills - pedigree analysis, risk calculations and clinical ethics.

•       Gene therapy: principles and future prospects.

Intended Knowledge Outcomes

By the end of this module students should be able to:

1. identify and differentiate between the different inheritance patterns exhibited by human genetic diseases

2. differentiate between the different molecular mechanisms which can lead to genetic disease viz. loss of function, gain of function, unstable repeats, epigenetic mechanisms, mosaicism and mitochondrial mutations

3. critically evaluation the different methods used to identify disease causing mutations. Specific diseases which arise by means of the different mechanisms.

5. recognise some genetic disorders and know their main clinical features.

Intended Skill Outcomes

By the end of the module the students should be able to:

1. draw pedigrees and interpret pedigree information

2. calculate genetic risk, and critically evaluate ethical issues surrounding specific clinical genetic scenarios

3. investigate gene structure and function using genome browsers and design gene specific PCR assays

Teaching Rationale And Relationship

Interactive lectures will provide the students with basic knowledge, encourage them to explore further concepts and be the platform for private study. The seminars will introduce pedigree drawing and interpretation skills, together with an appreciation of the dynamics of clinical consultation and associated ethical issues, in a group format which mimics working practices. Practical sessions will familiarise the students with interpretation of laboratory data, including the tools currently used for analysis of sequencing and microarray data, and will foster their ability to interpret diagnostic tests and develop critical appraisal skills. In other practical sessions students will use genome browsers and design gene specific PCR assays.

Assessment Rationale And Relationship

The essay questions both in course and in the end of module take home paper will test the student’s knowledge base, comprehension and ability to discuss the subject critically.

The formative group presentation will test the students’ ability to use on-line databases to find and interpret clinical information generated by the latest technologies.

General Notes

N/A