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WHY PHARMACOGENOMICS?
• Medicine is personal:
– We are all different.
– Some of our differences translate into how we react to
drugs as individuals.
• This is personalized medicine.
• The Goal of Personalized Medicine
 The Right Dose of
 The Right Drug for
 The Right Indication for
 The Right Patient at
 The Right Time.
SO,
• Why does someone need twice the standard dose to be
effective?
• Why does this drug work for you but not me?
• Why do I have side-effects and you don’t?
• Why do some people get cancer and others don’t?
Pharmacogenetics
Pharmacogenomics
Pharmacogenetics:
The role of genetics in drug responses.
OR
Study of individual gene-drug interactions,
usually one or two genes that have dominant
effect on a drug response.
Pharmacogenomics:
The science that allows us to predict a
response to drugs based on an individuals
genetic makeup.
OR
Study of genomic influence on drug
response, often using high-throughput data
(sequencing, SNP chip, expression, proteomics-
COMPLEX interactions).
WHAT IS PHARMACOGENOMICS?
• Study of the role of genetics in drug response
and
• The influence of genetic variation on drug
response in patients.
• Correlate gene expression or single-nucleotide
polymorphisms with
drug absorption, distribution, metabolism and
elimination.
• As well as drug receptor target effects
• Aims to optimize drug therapy, with respect to
the patients' genotype
• Ensure maximum efficacy with minimal adverse
effects.
• Drugs are optimized for each individual’s genetic
makeup.
• To provide pharmacogenomic based
recommendations for a given drug, two possible
types of input can be used:
– genotyping or exome or
– whole genome sequencing.
It’s all about what makes
YOUR genetic code UNIQUE!
Genetic Code: DNA
DeoxyriboNucleic Acid (DNA) contains all the information
necessary to make a complete. organism
DNA is composed of a combination of 4 nucleotides
A T C G
Adenine Thymine Cytosine Guanine
DNA: A long double-stranded string of
nucleotides that encode for many
genes.
Gene
Protein: Proteins are composed amino
acids. Amino acids are made from
triplets of nucleotides called codons.
Amino acid 1 Amino acid 2
Protein!
RNA: A single-stranded copy of one
gene.
The Central Dogma: DNARNAProtein
Codon 1 Codon 2
A small change in the gene sequence can result in a
very different protein
ATG GTG CTG TCT CCT
Met Leu Ser Pro
DNA:
Amino Acids/Protein: Val
Words: Tom and Sam are bad
ATG GTG CTG TCT ACT
Met Leu Ser Thr
DNA:
Amino Acids/Protein: Val
Tom and Sam are sadWords:
Changes in DNA are called variations or mutations
Variations in the DNA (genotype) can cause observable changes (phenotype) in
individuals
Variations in our DNA make us
UNIQUE!
What are the reasons a person would
react differently to drugs?
1. Having the receptor (protein) to recognize
the drug
2. Other physiological traits that enable you to
respond to a drug
3. How your body processes the drugs after
receiving it
Having the receptor (protein)
to recognize the drug
Drugs and Receptors
Cell
Drug
(Ligand) Receptor
(Protein)
Your DNA and Drugs
Variation in genes can cause variation in receptors
Cell
Cell
Cell
Cell
Cell
Too Many
(hypersensitive)
Too Few
(hyposensitive)
Mutated
(insensitive)
Other physiological traits that enable
you to respond to a drug
The presence of receptors influence how we react to
drugs like Tumoricide or chemicals like PTC
Tumoricide
Works!
Tumoricide
Does Not Work
Her2- Her2+
Where are the PTC receptors?
They are on your taste buds!
If a person has more taste buds, then he/she may be
able to taste the PTC more strongly.
How your body processes the
drugs after receiving it
Drugs Life:
• Absorption
• Distribuition
• Metabolism
• Excretion
• Scientists have names for the four basic stages of
a medicine's life in the body: absorption,
distribution, metabolism, and excretion or ADME.
• Medicines can be absorbed into the body in
many different ways.
– oral (swallowing an aspirin tablet),
– inhalation (like an asthma medications),
– intramuscular (getting a flu shot in an arm muscle),
– subcutaneous (injecting insulin just under the skin),
– intravenous (receiving chemotherapy through a vein),
or
– transdermal (wearing a skin patch).
• After that the drug is absorbed into the blood stream
it is distributed throughout the body to the targeted
organ.
• Then it is broken down, or metabolized. This
usually occurs in the body’s chemical processing and
detoxifying plant – The liver – where chemicals are
cut apart, stuck together, or transformed, making the
substance easier to get rid of or excreted.
• There are many proteins involved in each of these
processes. You can imagine if a person had a genetic
variation in a gene that affects one of these proteins
then there may be a roadblock in the ADME process
and a drug might not work the way it was intended.
Adverse Drug Reactions (ADR)
• Definition- unwanted, negative response to a prescribed drug
at normal doses and during normal use
• There are multiple causes for ADRs
–environmental basis
–genetic basis
• Poor metabolizers can experience ADRs at normally
therapeutic drug doses.
FUTURE
• There will come a day when,the physician
looks you over, listens to your symptoms, and
decides to prescribe you a drug.
But first,
• The doctor takes a look at your DNA.
• Comparatively,
• Today = Drugs are One-Size-Fits-All
• Future = Drugs Specific for You!
• More effective & minimizes side effects
Using people’s genetic information for the right
drug at the right dose at the right time!
Its Pharmacogenomics.
Presentation pharmacomics

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Presentation pharmacomics

  • 1.
  • 2. WHY PHARMACOGENOMICS? • Medicine is personal: – We are all different. – Some of our differences translate into how we react to drugs as individuals. • This is personalized medicine. • The Goal of Personalized Medicine  The Right Dose of  The Right Drug for  The Right Indication for  The Right Patient at  The Right Time.
  • 3. SO, • Why does someone need twice the standard dose to be effective? • Why does this drug work for you but not me? • Why do I have side-effects and you don’t? • Why do some people get cancer and others don’t?
  • 5. Pharmacogenetics: The role of genetics in drug responses. OR Study of individual gene-drug interactions, usually one or two genes that have dominant effect on a drug response.
  • 6. Pharmacogenomics: The science that allows us to predict a response to drugs based on an individuals genetic makeup. OR Study of genomic influence on drug response, often using high-throughput data (sequencing, SNP chip, expression, proteomics- COMPLEX interactions).
  • 7. WHAT IS PHARMACOGENOMICS? • Study of the role of genetics in drug response and • The influence of genetic variation on drug response in patients. • Correlate gene expression or single-nucleotide polymorphisms with drug absorption, distribution, metabolism and elimination. • As well as drug receptor target effects
  • 8. • Aims to optimize drug therapy, with respect to the patients' genotype • Ensure maximum efficacy with minimal adverse effects. • Drugs are optimized for each individual’s genetic makeup. • To provide pharmacogenomic based recommendations for a given drug, two possible types of input can be used: – genotyping or exome or – whole genome sequencing.
  • 9. It’s all about what makes YOUR genetic code UNIQUE!
  • 10. Genetic Code: DNA DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete. organism DNA is composed of a combination of 4 nucleotides A T C G Adenine Thymine Cytosine Guanine
  • 11. DNA: A long double-stranded string of nucleotides that encode for many genes. Gene Protein: Proteins are composed amino acids. Amino acids are made from triplets of nucleotides called codons. Amino acid 1 Amino acid 2 Protein! RNA: A single-stranded copy of one gene. The Central Dogma: DNARNAProtein Codon 1 Codon 2
  • 12. A small change in the gene sequence can result in a very different protein ATG GTG CTG TCT CCT Met Leu Ser Pro DNA: Amino Acids/Protein: Val Words: Tom and Sam are bad ATG GTG CTG TCT ACT Met Leu Ser Thr DNA: Amino Acids/Protein: Val Tom and Sam are sadWords: Changes in DNA are called variations or mutations Variations in the DNA (genotype) can cause observable changes (phenotype) in individuals
  • 13. Variations in our DNA make us UNIQUE!
  • 14. What are the reasons a person would react differently to drugs? 1. Having the receptor (protein) to recognize the drug 2. Other physiological traits that enable you to respond to a drug 3. How your body processes the drugs after receiving it
  • 15. Having the receptor (protein) to recognize the drug
  • 17. Your DNA and Drugs Variation in genes can cause variation in receptors Cell Cell Cell Cell Cell Too Many (hypersensitive) Too Few (hyposensitive) Mutated (insensitive)
  • 18. Other physiological traits that enable you to respond to a drug
  • 19. The presence of receptors influence how we react to drugs like Tumoricide or chemicals like PTC Tumoricide Works! Tumoricide Does Not Work Her2- Her2+
  • 20. Where are the PTC receptors? They are on your taste buds! If a person has more taste buds, then he/she may be able to taste the PTC more strongly.
  • 21. How your body processes the drugs after receiving it
  • 22. Drugs Life: • Absorption • Distribuition • Metabolism • Excretion
  • 23. • Scientists have names for the four basic stages of a medicine's life in the body: absorption, distribution, metabolism, and excretion or ADME. • Medicines can be absorbed into the body in many different ways. – oral (swallowing an aspirin tablet), – inhalation (like an asthma medications), – intramuscular (getting a flu shot in an arm muscle), – subcutaneous (injecting insulin just under the skin), – intravenous (receiving chemotherapy through a vein), or – transdermal (wearing a skin patch).
  • 24. • After that the drug is absorbed into the blood stream it is distributed throughout the body to the targeted organ. • Then it is broken down, or metabolized. This usually occurs in the body’s chemical processing and detoxifying plant – The liver – where chemicals are cut apart, stuck together, or transformed, making the substance easier to get rid of or excreted. • There are many proteins involved in each of these processes. You can imagine if a person had a genetic variation in a gene that affects one of these proteins then there may be a roadblock in the ADME process and a drug might not work the way it was intended.
  • 25. Adverse Drug Reactions (ADR) • Definition- unwanted, negative response to a prescribed drug at normal doses and during normal use • There are multiple causes for ADRs –environmental basis –genetic basis • Poor metabolizers can experience ADRs at normally therapeutic drug doses.
  • 26. FUTURE • There will come a day when,the physician looks you over, listens to your symptoms, and decides to prescribe you a drug. But first, • The doctor takes a look at your DNA. • Comparatively, • Today = Drugs are One-Size-Fits-All • Future = Drugs Specific for You! • More effective & minimizes side effects
  • 27. Using people’s genetic information for the right drug at the right dose at the right time! Its Pharmacogenomics.