genetics exam review

Question 1

what are neurons?

Answer 1

nevre cells in the brain that are responsible for lots of functions

Question 2

what are glial cells?

Answer 2

the most abundant cell in the cns

Question 3

what is the dendrite?

Answer 3

the tail part that recieves signals from other cells

Question 4

what is the soma?

Answer 4

the part with the neuceus with other thingsq

Question 5

what is the axon?

Answer 5

the long part of the cell that recieves action potentials

Question 6

what is dementia?

Answer 6

a group of diseases that encompases lots of things like memory loss

Question 7

what is the early stage of dementia characterized by?

Answer 7

mild cognitive impairment. so things like how to pay bills, to turn off light, etc

Question 8

what is the cause of dementia?

Answer 8

its caused by a myriad of diseases

Question 9

what is nft for alzheimers?

Answer 9

hyperphospholated tau protien that gets twisted aorund one another

Question 10

whats the normal function for nft?

Answer 10

stabalizing microtubules

Question 11

what is beta amyloid plaque?

Answer 11

when the beta amyloid protien builds up, becomes sticky, and stops cell to cell signaling

Question 12

what is vascular dementia?

Answer 12

dementia that is caused by damage to the blood vessels that supply blood to the brain

Question 13

is vascular dementia common?

Answer 13

its the second most common dememntia

Question 14

what are some causes of vascular dementia?

Answer 14

vascular issues, atherosclerosis, htn, stroke

Question 15

what is lewy body dememntia?

Answer 15

when there is a buildup of lewy body deposits in the brain and it alters the chemical makeup

Question 16

what are is the patho of lewy body dementia?

Answer 16

when the lewy body cells are causing the memory neurons for memory production and dopamine are being damaged

Question 17

what is parkinsons?

Answer 17

a progressive disorder of the brain that causes things like uncontrollabe shaking and balence etc

Question 18

what meds are used to combat parkinsons?

Answer 18

levadopa and carvadopa

Question 19

what is the moa of levadopa?

Answer 19

making more dopamine

Question 20

what is the moa of carvadopa?

Answer 20

to counteract the affects of levadopa

Question 21

what type of mendelian pattern is huntingtons?

Answer 21

autosomal dominant

Question 22

what is the cause of huntingtons?

Answer 22

an abnormal repeat of cag,ctg in exon 1

Question 23

what are the most affected cells in huntingtons?

Answer 23

neurons

Question 24

what are the triad of symptoms for huntingtons?

Answer 24

motor, cognitive, emotional

Question 25

what type of dna disorder is huntington and sca?

Answer 25

repeat expansion

Question 26

what is als?

Answer 26

the progressive shutdown of motor funciton in the brain and spinal cord

Question 27

what is the survival rate for als post diagnosis?

Answer 27

2-5 years

Question 28

what are the alternative names for als?

Answer 28

lou gherigs, charcot disease

Question 29

what are some risk factors for as?

Answer 29

family history, genetics, military service

Question 30

what are some als meds?

Answer 30

riluzone (reduce damage), edavarone(antioxidant), toferson (antioxidant)

Question 31

what are some things required for informed consent?

Answer 31

propper doccumentation by the hcp, education

Question 32

in what instance is informed consent not emphasized?

Answer 32

when the patient is incapacitated

Question 33

what is a proxy?

Answer 33

a person who makes decisions for the incapacitated

Question 34

can minors provide informed consent?

Answer 34

no they cannot, their parent or guardian does

Question 35

what is eugenics?

Answer 35

a theory that tries to make it possible to achieve a "perfect race"

Question 36

who first coined the term eugenics ?

Answer 36

charles darwin cousin

Question 37

which state passed the first sterilization law ?

Answer 37

indiana

Question 38

what are hela cels?

Answer 38

cells associated with henrietta lacks that are immortal

Question 39

what is the common rule law?

Answer 39

law put in place to ensure that humans are protected when they participate in trials funded by the government

Question 40

what does GINA stand for?

Answer 40

Genetic Information Nondiscrimination act

Question 41

what does the gina act do?

Answer 41

it prevents discrimination based on genetic testing resuts

Question 42

does gina act protect against miitary, health and life insurance, and small empoyers?

Answer 42

no

Question 43

what are some other names for precision medicine?

Answer 43

personalized medicine, genomic medicine

Question 44

what is bioinformatics?

Answer 44

when you use computers to collect, store, and sequence dna data

Question 45

what is biomarkers?

Answer 45

bood and tissue that can be used to diagnose conditions

Question 46

what are some advantages of next generation sequencing?

Answer 46

its quick, cost effective, new, and can sequence thousands of strands

Question 47

what is ion torrent technology?

Answer 47

sequencing that focuses on detecting hydrogen ions

Question 48

what is pharmacogenetics?

Answer 48

the study of how each person might react to therapie based on their gene sequencing. it can also detect if the drug therapy would be useful

Question 49

where are the cyp isoenzymes found?

Answer 49

liver, intestines, kidney

Question 50

how many isoenzymes are there?

Answer 50

57

Question 51

how many isoenzymes are responsible for drug metabolism?

Answer 51

6 (respponsible for 90 % of all drug metabolism)

Question 52

how do the cyp enzymes handle drug breakdown?

Answer 52

it analyzes your metabolism to see if youre too fast or slow of a metabolizer, and it then converts the drugs to its correct form

Question 53

what is genomics?

Answer 53

the study of an individuals genome and how it reacts with the enviornment

Question 54

how far away is most of the new therapies?

Answer 54

10-15 years out i fear

Question 55

what is an open label trial?

Answer 55

when the researchers know which groups their patients are assigned

Question 56

what is a blind study?

Answer 56

when the reararchers and/or the participants dont know which group theyre apart of

Question 57

what is phase 1 of clinical trial?

Answer 57

when it is focused on safety and how the drug interacts with the body

Question 58

what is phase 2 of the drug trial?

Answer 58

when them ppl compare the drug to other drugs to see its efficacy. this is when they sometimws use a placebo

Question 59

what is phase 3 of the drug trial?

Answer 59

when it is given to larger groups of the population to see if the drug is working and how effective is it

Question 60

what is phase 4 of the trial ?

Answer 60

when the drug is made avaliable for the public. usually this is when people are testing for rare side affects

Question 61

what is the golden standard for genetics ?

Answer 61

genetic sequencing that gives the best possible practice for the patient

Question 62

what is the variant of uncertain significance?

Answer 62

when an unknown variant has been found, but we dont know if it plays a factor in gene changes

Question 63

what is a positive result in genetic testing?

Answer 63

a change in a specific gene was found

Question 64

what is a negative result in a genetics test?

Answer 64

the lab did not find a change in dna. it usually means that the person is not affected by a soecific disease process

Question 65

what was the challenges noted in the geentic study from 2021?

Answer 65

that there was so much ambiguity and uncertainty with people not being able to interpret the results. the variant of uncertain significance played a huge role

Question 66

what was the consequence of the misinterpreted results in the 2021 study?

Answer 66

people had unecessary follow up appointments