Transcript future Medicines - Mrs Smith` s Biology

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Learning Outcomes
• Examine how future medicine may take into
account an individuals genome for
personalised medicine
• Distinguish between neutral and harmful
mutations (SNPs)
• Explain pharmacogenetics
Personal Genome Sequence
• Complete sequencing of person’s DNA
bases – called personal geonomics
• Why has this become more and more
possibly?
• Faster and cheaper due to techniques like
PCR (next lesson!!)
• Analysis of an individual’s genome may lead
to personalised medicine through
understanding the genetic component of risk
of disease eg. BRCA 1 and 2 genes for
breast cancer means 45 to 65% chance of
developing breast cancer by the age of 70!
Mutations – neutral vs. harmful
• What is a mutation? Genetic disorder?
• What do you think the difference between
harmful and neutral?
• Genetic disorder – result of variation in
genomic DNA sequence (mutation)
• Harmful – fail to code for an essential protein
• Neutral – have no negative effect
• Analysis of an individual’s genome may lead
to personalised medicine through
understanding the genetic component of risk
of disease eg. BRCA 1 and 2 genes for
Mutations – neutral vs. harmful
• Establish a casual link between mutation and
disease
• However link DOES not mean CAUSE!
• Disease is complex nature between
environment and genetics factors.
So we used breast cancer and BRAC1 and 2
genes, other genes . TC53, PTEN genes,
CASP8, FGFR2, TNRCP, MAP3K1, rs4973768
and LSP1 – so complex interactions!
• However breast cancer increases over 50, so age a factor!
• Parabens
(deodrant
chemical)
link to
breast
cancer
• Obseity
linked to
breast
cancer!
• Many links!
Drug Problems?
• What are the potential problems when you
take a drug?
• What are the potential
problems/ effects when you
take a drug?
Long term effects of the drug only
later seen
`
Heart attacks/Strokes/Blood Clots
• Drug of choice is warfarin (previous rat
poison!)
• Thins the blood, however people are
resistant or sensitive to the drug.
• 5 gene SNP were investigated - VKORC1,
CYP2C9, CALU, EPHX and GGCX
• VKORC1 and CYP2C9 SNPs – indicated
sensitivity
• Resistance associated with p.Asp36Tyr in
VKORC1 in their population base.
• Pharmacogenetic screening for initial warfarin
dosing in clinic populations in Canada.
Pharmacogenetics
Pharmaceutical drugs
On genetics
• Defined as the study of the effects of drugs
(whether therapeutic, neutral or adverse) on
genetically diverse members of the human
population.
• In future able to tailor your drugs, dosage/type
depending on your genome
• Also help in rational drug design (smart design)
Drug Design
• If DNA sequenced, the
protein expressed –
pharmacogenetics design
a drug targeted to that
molecule by computer
modelling.
• eg/ Chronic myeloid
leukaemia (CML) treated
with tyrosine kinase
inhibitor (imatinib) against
the enzyme.
Genes Links ......
Genetic Profiling Risk and Ethics
• Genes are being linked to various conditions
almost daily!
• Future will be able to scan for predisposition to a
particular disease/condition
• Allow early
prediction for
earlier action/
treatment –
drugs or
lifestyle
Genetic Profiling Risk and Ethics
• If this becomes routine who
should have access to the
information?
• Persons family/offspring?
• Persons employer/life insurer?
• People believe a law to
prevent genetic discrimination
needs to be introduced before
this technology becomes
cheap enough for everyone.
• What do you think?
Homework