MSc Genomic Medicine

The Fundamental of Human Genetics and Genomics unit is a subject-specific lecture based module in the MSc Genomic Medicine programme. This unit will provide essential and contemporary knowledge relating to genomic science and genetic disease. The unit consists of a mixture of e-learning modules, taught lectures and tutorials. The lectures will be delivered by a range of clinical and non-clinical academic staff, many of whom are internationally recognised experts in their field. This is a Core unit attended by students from a number of different Programmes.

 

The course contains 9 hours e-lectures, 5 hours face-to-face lectures and 5 tutorial type of learning sessions. The very first 2 hours e-lectures revise the basics of genomic medicine and will be particularly useful to students who may wish to refresh their knowledge of the basics of human genetics.

• Discuss the human genome structure and the properties of DNA
• Evaluate genome architecture and its variation across human populations
• Evaluate the regulation of gene expression, transcription and translation
• Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease
• Assess epigenetic modifications and imprinting and its role in disease
• Explain the molecular mechanisms of Mendelian disorders
• Interpret genotype-phenotype correlations
• Appraise the current strategies for molecular diagnosis of genetic diseases using cutting edge technologies
• Understand the molecular mechanisms involved in the development of cancer
• Understand the difference between sporadic cancer and inherited cancer syndromes
• Have an overview of the current and future potential therapeutic interventions for rare disorders 
• Be able to calculate genetic risks for inherited conditions
• Be able to interpret clinical reports from molecular genetic diagnostic laboratories.

• Apply genomic medicine to routine clinical practice, and investigate genetic conditions.
• Assess the appropriateness of applying new technologies to modern genomic medicine research.
• Critically evaluate relevant scientific literature relating to new technologies and assess their application to modern genomic medicine.
• Evaluate methods of investigating genetic conditions to select appropriate tests for individual patients and families.

• Calculate genetic risks for Mendelian conditions using pedigree data, and the Hardy-Weinberg equation. 
• Interpret clinical reports from molecular genetic diagnostic laboratories.
• Correlate genetic markers to phenotype and interpret association study data for dichotomous and quantitative traits.

• Evaluate the benefits and limitation of contemporary knowledge of human genetics in clinical practice. 
• Objectively review scientific literature.

Written exam (MCQs) 70%  Written assignment 30%

Formative and summative feedback given

 Includes but is not limited to –

1. Read, A and Donnai, D. New Clinical Genetics (3rd edition). Scion Publishing Ltd.
2. Strachan, T and Read, A. Human Molecular Genetics (4th edition). Garland Science.