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Pharmacogenomics, Pharmacogenetics - Coggle Diagram
Pharmacogenomics
Cytochrome P-450 enzymes
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Approx 25 allelic variants known that disturb for example splice sites and insert part of an intron.
CYP3A52 and CYP3A53 are two widely studied non or partly functional variants. Found at high frequency in white, many Asian and some North African populations
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Antidepressants, β-blockers, anti arrhythmics
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70 functionally different alleles reported – most variant of the CYP450s
15 of these code for a non functional / no enzyme
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They also have physiological substrates e.g. steroid hormones, arachidonic acid
Polymorphisms in these genes may also contribute to risk for certain types of disease e.g. hypertension
The Human Genome Project
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Some SNPs are implicated in disease such as sickle cell disease or cystic fibrosis, others are indicative of a predisposition
Many human genes have a variation that can be exploited in the identification of disease related genes
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In non coding regions may affect transcription, processing
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Pharmacogenomics
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Identify if an individual has a particular SNP which affects their ability to metabolise certain drugs
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Pharmacogenomics
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Personalised medicine
Personalised medicine is a move away from a ‘one size fits all’ approach to the treatment and care of patients with a particular condition, to one which uses new approaches to better manage patients’ health and targets therapies to achieve the best outcomes in the management of a patient’s disease or predisposition to disease. (NHS statement)
Example: studying how genetic makeup affects susceptibility to disease e.g. testing for BRCA1 mutations or for familial hypercholesterolaemia
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