Personalised Medicine

How can SNPs affect drug treatment in patients?

• single nucleotide polymorphism

• can cause change in proteins (e.g. under/overexpression)

  • changes how drug works for that patient

What is a silent substitution mutation?

• change in codons but still produces same amino acid

What is a nonsense substitution mutation?

• premature stop codon

• early protein termination

What is missense substitution mutation?

What is conservative missense?

What is non-conservative missense?

• switching codon for another one

• conservative = amino acid produced is similar to when there is no mutation (e.g. both normal and mutation are polar)

• non-conservative = different amino acids with diff properties e.g. normal is basic and mutation is polar

What are types of mutations?

• substitution mutations

  • silent/synonymous

  • nonsense

  • missense

    • conservative

    • non-conservative

• deletion mutations

• insertion mutations

What is pharmacogenetics?

• variations in a single gene or small group of related genes that affect the pharmacology of a drug

What is pharmacogenomics?

• variations in several genes or the genome that influence drug response

What is GWAS?

What are their aims

• genome-wide association studies

• find polymorphisms that alter drug response and make better treatment for certain patient populations

What allele (C or T) is more associated with increased risk of developing multiple sclerosis?

What collection of genes is this SNP near?

• T allele

• HLA (human leukocyte antigen)

If a SNP is inherited alongside a condition (is higher prevalence with people who have the condition than not) then what does that indicate?

• indicates that SNP has something to do with the illness (and so can be treated)

What is a meta-analysis?

What is a benefit of meta-analysis?

• take all studies that have been carried out in diff places that are about the same topic and then combine them into one big meta-analysis

• more statistical power

What gene responsible for asthma (note: not looked at the workshop yet, so delete this flash if incorrect thanks alisha)?

• ORMDL3

What are the drug label colours?

• red (testing required)

• orange (testing recommended before using drug but can start drug before testing)

• green (no testing required but gene variations cause diff response to drug)

• blue (no gene leading to diff response - no testing required)