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Unit information: Genomic Medicine in 2016/17

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Unit name Genomic Medicine
Unit code SSCM30008
Credit points 20
Level of study H/6
Teaching block(s) Teaching Block 1 (weeks 1 - 12)
Unit director Professor. Timpson
Open unit status Not open

This is part of an intercalated BSc for Medical, Veterinary or Dental students



School/department Bristol Medical School
Faculty Faculty of Health Sciences


Specific clinical applications of genomic knowledge, including topics such as clinical genetics of rare disorders, genomics of cardiovascular health and disease, genomics of allergy, eczema and asthma, behavioural and psychiatric genomics, cancer genomics, genomic prognosis and precision medicine.

Intended learning outcomes

After this component of the course, students will be able to:

1) describe rare Mendelian disorders and associated case studies

2) evaluate the literature on the genomics of health and cardiovascular disease

3) evaluate the literature on the genomics of allergies, eczema and asthma

4) evaluate the literature on behavioural and psychiatric genomics

5) discuss the mechanisms of cancer risk and tumour genomics

6) discuss how our genome interacts with the genomes of micro-organisms

7) critically evaluate the use of genomic information for prognosis and precision medicine

8) discuss the practical and ethical implications of genetic screening, modification and counselling

9) discuss the economics of genomic medicine

Teaching details

Methods of Teaching

This unit will be delivered in the form of workshops using a variety of methods including interactive lectures, presentations, debates and seminars.

Contact Hours Per Week 2

Student Input

20 contact hours, 20 hours coursework, half of a 3 hour exam, 150 hours independent study

Assessment Details

Assessment Details

This part of the course will be assessed as one third of written Paper 1 and through 2 written essays during the unit and 1 oral presentation. Written paper 1 will be composed of both multiple choice questions and short answer questions and one third of this three-hour exam will be based on this unit. The two in-unit essays will follow the format of 3000 word, reading list provided, reports which will be graded according to university guidelines and the oral presentation will be delivered as either a short seminar or debate. Overall, paper 1 will form 35% of the course mark, with 15% coming from the oral presentation for the short units.

Methods of assessment: written 70%; coursework 30%

Reading and References

Lewin – Genes XI - 2013

Strachan and Read – Human Molecular Genetics – 4th Edition - 2010

Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly M, Seddon JM (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nature Genetics 38: 1055-1059.

Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447: 661-678.

Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316: 889-894.

Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316: 1336-1341.

Daetwyler HD, Villanueva B, Woolliams JA (2008) Accuracy of predicting the genetic risk of disease using a genome-wide approach. PLoS ONE 3: e3395.

Hill WG, Goddard ME, Visscher PM (2008) Data and Theory Point to Mainly Additive Genetic Variance for Complex Traits. PLoS Genet 4: e1000008.

McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN, McCarthy MI, Abecasis GR, Cardon LR, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.

Visscher PM, Hill WG, Wray NR (2008) Heritability in the genomics era--concepts and misconceptions. Nat Rev Genet 9: 255-266.

Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JRB, Stevens S, Hall AS, et al. (2008) Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 40: 575-583.

GIANT consortium (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics 41: 25-34.