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Genetic variation

This 16 minute tutorial about genetic variation will introduce you to some useful curated databases of information about Mendelian disease; it will also consider common, complex disease phenotypes and the …

Social science tutorial: Incidental findings

A striking problem for clinicians and scientists in the near-future may be engaging in discussions about incidental findings. Analysing the sequence of whole human genomes, either in clinical practice or …

Stratified medicine and pharmacogenetics

The area of genetic medicine that is certain to expand rapidly over the next decade is pharmacogenetics which is the use of genetic information to improve the efficacy, and/or reduce …

Genetic variation and complex traits

Common genetic variants are considered to be potential screening tools that could be used in disease prevention and tailored treatment regimes, and spin-off initiatives from the Human Genome Mapping Project …

The 100 thousand genomes (100k) project

Regional Genomic Centres in the UK National Health Service have started an ambitious project to sequence 100,000 human genomes. The 100K Genomes project has an educational division that produces information, …

The genome and pharmacogenetics

In this 12 minute tutorial, Barbara Jennings describes the human genome, the human genome project and how our understanding of genetic variation can be applied to pharmacogenetics. You can download …

Introduction to Week 1

Lead educator Barbara Jennings welcomes you to the course. The Human Genome has been the focus of intensive research initiatives since genome mapping began in earnest in 1990. In this …

Some final thoughts

During the construction of this course we had a wide-ranging discussion about the use of genetics in medicine by today’s clinicians. We also debated the potential utility of genomic medicine …

The genetic basis of DPD deficiency

Dihydydropyrimidine dehydrogenase (DPD) is a key metabolic enzyme that affects the pharmacokinetics of and toxicity of fluoropyrimidines including 5-fluorouracil (5-FU) and its oral prodrugs (e.g. capecitabine). Over 80% of 5-FU …

Evidence behind clinical practice guidelines

We will consider the evidence behind clinical practice guidelines described on the PharmGKB pharmacogenomics knowledge resource website Cancer chemotherapy has the potential for prolonging lives, and regimes that include the …