Lecture #1 Flashcards

1
Q

<p>What is the central dogma of gene to protein pathway? (4)</p>

A

<p>DNA replication occurs
Gets transcripted into RNA
RNA gets translated
Protein gets made</p>

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2
Q

<p>What is epigenetics? </p>

A

<p> the study of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence.</p>

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3
Q

<p>How does how does epigenetics differ from typical genetics?
What are three examples of things looked at in epigenetics?</p>

A

<p>Looking at everything that happens to DNA
-Reversible DNA methylation
-Reversible RNA methylation
-Reversible Histone Methylation or acetylation
</p>

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4
Q

<p>What is a genetics view vs. a genomic view?

| (with regards to schizophrenia)</p>

A

<p>Genetics looks at what single genes cause schizophrenia

| Epigenetics looks at how environment causes multiple genetic perturbations and causes schizophrenia</p>

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5
Q

<p>What is the ENCOD project hoping to accomplish?</p>

A

<p>To identify all functional elements in the human genome.</p>

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6
Q

<p>What is the nucleotide difference between humans and apes?</p>

A

<p>~ 1% nucleotide difference</p>

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7
Q

<p>What is the nucleotide difference between humans?</p>

A

<p>.1 %</p>

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8
Q

<p>What makes humans all so different if we are all so similar? </p>

A

<p>Differences in the functional elements of the genome</p>

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9
Q

<p>Genome</p>

A

<p>All the genetic material of an organism</p>

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10
Q

<p>Genetics</p>

A

<p>Study of single genes and its effects</p>

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11
Q

<p>Genomics</p>

A

<p>Study of all the genes in the genome, including their interactions with environmental factors
</p>

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12
Q

<p>Pharmacogenetics</p>

A

<p>The study of influences on an individual's response to drugs.</p>

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13
Q

<p>Pharmacogenomics</p>

A

<p>The study of all genes collectively that influence drug responses and how genome-wide analysis may be used to identify such genes in the search of novel drug targets and or key determinants of drug reaction</p>

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14
Q

<p>What will pharmacogenomics trying to achieve?</p>

A

<p>How to predict which patients will benefit from a particular medicine and which patients will suffer
serious side effects.
</p>

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15
Q

<p>3 billion base pairs in\_\_\_\_\_\_\_\_\_\_\_\_
3 million base pairs \_\_\_\_\_\_\_\_
100,000 base pairs \_\_\_\_\_\_\_\_\_
</p>

A

<p>3 billion base pairs in human genome
3 million base pairs variable
100,000 capture full human variation
</p>

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16
Q

<p>What are some problems that pharmacogenomics could fix?</p>

A

<p>• Many drugs for some illnesses
• Not enough information about the patient
• Drugs are specified by trial and error
• Most drugs have side effects
• Some drugs have serious side effects
• For a drug to get approved by FDA drug trials are done
• Pharma companies need to show a specific population for drug action
• Many potential drugs are abandoned because the population it will benefit is not characterized convincingly
</p>

17
Q

<p>What does it cost to make a new drug?</p>

A

<p>$500-700 million dollars</p>

18
Q

<p>How long does it take to launch a drug product ?</p>

A

<p>12 years</p>

19
Q

<p>How long do patents last?</p>

A

<p>7 years</p>

20
Q

<p>How is therapeutic index impacted by pharmacogenomics?</p>

A

<p>Its increased!</p>

21
Q

<p>What is efficacy of a drug?</p>

A

<p>% patients cured at given dose</p>

22
Q

<p>What is toxicity of a drug?</p>

A

<p>% of patients exhibiting side effects at a given dose

| </p>

23
Q

<p>What is therapeutic index?</p>

A

<p>Dose range at which drug shows highest efficacy and low toxicity</p>

24
Q

<p>Out of the top 10 causes of death in America how many have a genetic component?</p>

A

<p>9 out of 10. </p>

25
Q

<p>What are most diseases caused by?</p>

A

<p>Gene-environment interactions</p>

26
Q

<p>What are three ways that to improve disease outcomes by recognizing gene-environment interactions?</p>

A

<p>-screening and medical recommendations

- exposure interventions or prevention to environmental factors
- Target messages and interventions aimed at changing behaviors</p>

27
Q

<p>What are some Forces Driving Pharmacogenomics into Healthcare Practice? </p>

A

<p>Drugs having narrow therapeutic ranges.

| </p>

28
Q

<p>What are the current impacts of pharmacogenomics?

| (3)</p>

A

<p>- broadly adopted in drug discovery and development phases in the pharmaceutical industry
- research heavily invested upon by public and private companies
- the future of medicine, PERSONALIZED MEDICINE
</p>

29
Q

<p>What are future trends of pharmacogenomics?

| (3)</p>

A

<p>• Point of care (Doctor s office) genetic testing
• Personal Genomics
• Population sequencing
</p>

30
Q

<p>What is personalized medicine?</p>

A

<p>-use of an individual s genetic profile to make the best therapeutic
-genetic variation of enzymes that break down or activate drugs can account for both life threatening side effects and drug efficacy
-can allow prediction of a person s response to chemotherapy
</p>

31
Q

What are the clinical implications of pharmacogenomics?

3

A
  • Improved Efficacy
  • Reduced Toxicity
  • Create optimal dose range for drug
32
Q

What are three groups of people that have negative intearactions with a drug?

A
  • Extreme drug responders
  • Non-responders-drug is ineffective
  • Adverse responders drug causes harmful side effets
33
Q

How should one deal with non-responders?

A

Increase dose or change therapy

34
Q

How should one deal with adverse responders?

A

Decrease dose greatly or choose a different form of medicine