Fundamentals of Human Genetics

BIOL67561 Fundamentals of Human Genetics 15 Semester 1 Postgraduate Taught Level 7 Tao Wang Unit coordinator Miriam Smith Unit coordinator School of Biological Sciences 1 FHEQ level (Framework for Higher Education Qualifications) ' Masters/Integrated Masters P4 ' European Credit Transfer & Accumulation System Rating : 7.5 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 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. <div> This compulsory module ensures students have a good understanding of the molecular basis of human genetic diseases, and appreciate the contemporary technologies used in modern genomic medicine. Students will be equipped with advanced knowledge of the genomic mechanisms that give rise to human disease, understand the application of new technologies in the diagnosis and management of genetic diseases, gain knowledge of the genetic changes that occur in tumour development and how genetic variants contribute to common diseases. They will also gain insight into how understanding these mechanisms has enabled the development of improved treatments for genetic diseases.</div>  <ul> <li> Discuss the human genome structure and the properties of DNA</li> <li> Evaluate genome architecture and its variation across human populations</li> <li> Evaluate the regulation of gene expression, transcription and translation</li> <li> Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease</li> <li> Assess epigenetic modifications and imprinting and its role in disease</li> <li> Explain the molecular mechanisms of Mendelian disorders</li> <li> Interpret genotype-phenotype correlations</li> <li> Appraise the current strategies for molecular diagnosis of genetic diseases using cutting edge technologies</li> <li> Understand the molecular mechanisms involved in the development of cancer</li> <li> Understand the difference between sporadic cancer and inherited cancer syndromes</li> <li> Have an overview of the current and future potential therapeutic interventions for rare disorders </li> <li> Be able to calculate genetic risks for inherited conditions</li> <li> Be able to interpret clinical reports from molecular genetic diagnostic laboratories.</li></ul> <ul> <li> Apply genomic medicine to routine clinical practice, and investigate genetic conditions.</li> <li> Assess the appropriateness of applying new technologies to modern genomic medicine research.</li> <li> Critically evaluate relevant scientific literature relating to new technologies and assess their application to modern genomic medicine.</li> <li> Evaluate methods of investigating genetic conditions to select appropriate tests for individual patients and families.</li> </ul> <ul> <li> Calculate genetic risks for Mendelian conditions using pedigree data, and the Hardy-Weinberg equation. </li> <li> Interpret clinical reports from molecular genetic diagnostic laboratories.</li> <li> Correlate genetic markers to phenotype and interpret association study data for dichotomous and quantitative traits.</li> </ul> <ul> <li> Evaluate the benefits and limitation of contemporary knowledge of human genetics in clinical practice. </li> <li> Objectively review scientific literature.</li> </ul> The course contains 10 hours e-lectures, 5 hours face-to-face lectures, 3 tutorial type of  learning sessions, and 1 hour Q&A session. 0 Other 70% 2 Written assignment (inc essay) 30% Written exam (MCQs) 70%  Written assignment 30% Formative and summative feedback given MSc Genomic Medicine FT MSc Genomic Medicine FT PGDT Taught Component Mandatory MSc Genomic Medicine FT MSc Genomic Medicine FT (HEE) PGDT Taught Component Mandatory MSc Genomic Medicine PT MSc Genomic Medicine PT PGDT Taught Component Mandatory MSc Genomic Medicine PT MSc Genomic Medicine PT (HEE) PGDT Taught Component Mandatory PG Diploma Genomic Medicine PT PG Diploma Genomic Medicine PT PGDT Taught Component Mandatory PG Diploma Genomic Medicine PT PGDip Genomic Medicine PT(HEE) PGDT Dissertation Mandatory PG Cert Genomic Medicine PT PG Cert Genomic Medicine PT PGDT Taught Component Mandatory PG Cert Genomic Medicine PT PG Cert Genomic Med PT (HEE) PGDT Taught Component Mandatory Genomic Medicine - CPD Genomic Medicine - CPD PGDT Taught Component Optional Genomic Medicine - CPD Genomic Medicine - CPD (HEE) PGDT Taught Component Optional MRes Genomic Medicine MRes Genomic Medicine PGDT Taught Component Mandatory Y  Includes but is not limited to – <ol> <li> Read, A and Donnai, D. New Clinical Genetics (3rd edition). Scion Publishing Ltd.</li> <li> Strachan, T and Read, A. Human Molecular Genetics (4th edition). Garland Science.</li> </ol> 0 0 150