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NUSM 101 > L4: Personalized Medicine > Flashcards

L4: Personalized Medicine Flashcards

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1
Q

What does Pharmacogenomics study?

A

Variations of DNA and RNA characteristics as related to drug response

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2
Q

Prediction and prevention of disease

A

Earlier detection -> prospect of new treatment options -> people make informed lifestyle choices -> reduce the growing burden of disease (particularly for long term conditions such as cardiovascular diseases, cancer, chronic respiratory diseases and diabetes)

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3
Q

What is Familial Hypercholesterolemia(FH)?

A

causes raised cholesterol and a risk of heart attack and other cardiac events in the under 50s.

It affects 1 in 250 people – but only 1 in 6 of these are diagnosed.

By systematically using both genetic and biochemical testing, FH can be identified -> inexpensive medicines from future problems

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4
Q

More Precise diagnoses

A

Knowledge of each individual’s complex molecular and cellular processes, informed by other clinical and diagnostic information -> fully understand the abnormal function and determine the true cause of the symptoms.

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5
Q

Full implementation of personalized medicine (6)

A

Risk assessment (genetic testing to reveal predisposition to disease)
Prevention (behavior/lifestyle/treat,ent intervention to prevent disease)
Detection (at the molecular level)
Diagnosis
Treatment
Management (active monitoring)

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6
Q

For how many percentage of cancer patients drugs are ineffective

A

75

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7
Q

For how many percentage of Alzheimer’s patients drugs are ineffective

A

70

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8
Q

For how many percentage of osteoporosis patients drugs are ineffective

A

52

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9
Q

For how many percentage of arthritis patients drugs are ineffective

A

50

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10
Q

For how many percentage of migraine patients drugs are ineffective

A

48

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11
Q

For how many percentage of diabetes patients drugs are ineffective

A

43

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12
Q

For how many percentage of cardiac arrhythmias patients drugs are ineffective

A

40

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13
Q

For how many percentage of asthma patients drugs are ineffective

A

40

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14
Q

For how many percentage of depression patients drugs are ineffective

A

38

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15
Q

Which types of cancer use tailored treatment on a genetic base?

A

Melanoma, leukemia, colon, brain, breast cancers

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16
Q

Targeted and personalized interventions

A

Move away from trial-and-error, optimal therapy first time round

17
Q

Common and effective treatment to prevent blood clots

A

Warfarin
40-fold difference in dose

18
Q

A more participatory role for patients

A

Discuss with patients information about individual genomic characteristics, lifestyle, environmental factors

preventative measures, lifestyle changes

19
Q

Approach to analyze the DNA sequence of a genome

A

Genomics

20
Q

Approach to analyze the genes that are being expressed at a given point

A

Transcriptomics

21
Q

Approach to analyze the products of cellular metabolic processes

A

Metabolomics

22
Q

Approach to analyze chemical modifications that attach to DNA to regulate gene expression

A

Epigenomics

23
Q

Approach to analyze the composition, abundance, structure and function of the full set of proteins coded for by our genes

A

Proteomics

24
Q

PD-L1 positive in immunohistochemistry

A

Brown

25
Q

CD8 (CTL) high number in immunohistochemistry

A

Purple

26
Q

What is PI3K composed of?

A

85-kDa regulatory subunit
110-kDa catalytic subunit

27
Q

What does trastuzumab do?

A

Suppresses HER2 activity but does not inhibit heterodimerization

28
Q

What does pertuzumab do?

A

Capability of binding to the extra cellular dimerization subdomain of the HER2 receptor, reducing HER2 intracellular signaling events by blocking heterodimerization with other HER receptors

29
Q

What does lapatinib do?

A

By competing with ATP, small molecule TKI Lapatinib blocks HER2 signaling, preventing auto phosphorylation and subsequent downstream signaling events

NUSM 101 (4 decks)

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