Personalized Medicine, Pharma and Genetic Variance Flashcards
Relative Risk
Equation from Dr. Millonig’s lecture
(Disease Prevalence in RELATIVES OF AFFECTED) /
Disease Prevalence in GENERAL POPULATION) = (lambda-r
Heritability
Definition and Calculation from Dr. Millonig lecture
Def: Fraction of population variance for a trait that is cause by genetic variation
(h^2 = (DZ-MZ)/DZ)
*If h^2 = 0, the trait is not due to heritability (may come from env.)
- DZ and MZ have no difference in variability
*If h^2 = 1, trait is entirely due to heritability (exclusively genes)
- MZ variability = 0
Penetrant
Definition
Fraction of individuals who carry an allele who show phenotypic manifestations of that allele
Common variants
Less individual risk but MORE POPULATION RISK
(Removing or adding these increase susceptibility)
Ex: lactose intolerance
Rare variants
Personalized, PRIVATE MUTATIONS; does not explain prevalence
Breaks the gene; contribute less to the general population
Differential Expressivity
Same mutation, different severity; GRADATIONS of severity of PHENOTYPE
Ex: (HPE) Holoprosencephaly
Incomplete Penetrance
Explains 1st generation with disease, 2nd generation WITHOUT DISEASE PHENOTYPE, then the 3rd generation with the reoccurrence of disease.
*Person in 2nd generation has mutation, but no phenotype.
(Can be due to epigenetic modification or environmental exposure.)
The body __________ Warfarin, which inhibits __________ reductase to stop __________ cascade. Fast metabolizes of this drug are more ___________.
Deactivates;
Vitamin K;
Clotting
TOLERANT
Describe Pharmocodynamics (PD)
WHAT THE DRUG DOES TO THE BODY and interaction with downstream targets;
Drug treatments plan to keep the dosage effect within the THERAPEUTIC WINDOW.
Describe Pharmacokinetics (PK)
WHAT THE BODY DOES TO THE DRUG over a period of time;
Involves drug ABSORPTION, transportation, METABOLISM and CLEARANCE;
Related to efficiency of the drug in treating the symptoms;
Focuses on how the drug is applied (nasal, IV, oral)
Describe Sensitivity.
People who have HIGHER DRUG LEVELS left in the body after a certain period of time are MORE SENSITIVE. They tend to be POORER METABOLIZERS of an activating drug. Therefore lower dosages are necessary for the same effect.
Describe Tolerance.
People tend to be FASTER METABOLIZERS of an activating drug. They tend to have LESS DRUG in the body after a certain period of time. Higher dosage is needed for the same effect due to better clearance.
