from gene to clinic

Question 1

what is the significance of gene identification in mutations

Answer 1

accurate diagnosis and counselling.
starting point for deciphering its function.
identifies targets for therapy.

Question 2

what 2 cancers do mutations in BRAC1 and BRAC2 predispose you to

Answer 2

ovarian and breast cancer.

Question 3

what are the advantages of testing the BRAC mutations

Answer 3

Feel relieved knowing for certain whether or not they are at a higher risk for breast cancer.
Target specific treatment
Take preventative measures-diet exercise etc.
other family members can decide if they want to be tested.

Question 4

what are the disadvantages for testing the BRAC mutations

Answer 4

Women may become worried, panicked, or stressed if they discover they have a higher than average risk for breast cancer.
Women who test positive for BRCA mutations are faced with the difficulty of telling family members (some of whom may also have the mutation).
Women who test negative for BRCA mutations may falsely believe they will never get breast cancer.
complications with health or life insurance.

Question 5

preventative measures after confirmed BRACA mutations

Answer 5

Remove ovaries after family

preventative mastectomy

Question 6

Is the pre symptomatic screening for breast cancer.

Answer 6

Yes- diagnosed as DNA level and you can do something about it..

Question 7

what 4 methods of prenatal diagnosis are commonly used.

Answer 7

Amniocentesis (17 weeks)
Chorionic villus sampling (11 weeks)
Maternal peripheral blood (sex)
New non-invasive method based on NGS of mother’s blood (10 weeks).

Question 8

what type of disorders are preimplantation diagnosis used for.

Answer 8

monogenic disorders

chromosomal abnormalities.

Question 9

define non disclosure testing

Answer 9

you don’t’ test the parents whether they have the disorder but you test the risk of their child having the disorder without informing them or their risk.

Question 10

what common hereditary condition causes obesity

Answer 10

leptin deficency.

Question 11

what is the function of leptin

Answer 11

secreted by fat cells in order to tell the brain to reduce food intake, increase thermogeneiss and increase physical activity.

Question 12

what cells produce leptin

Answer 12

fat cells.

Question 13

define gene therapy

Answer 13

the use of genetic material- DNA or RNA- as a medicine.

introduction of functional genes, in the form of DNA, to replace mutated genes.

Question 14

what is leber’s congenital amaurosis

Answer 14

Rare inherited eye disorder

Blindness at birth or in infancy

Question 15

pathogenesis of leber’s congenital amaurosis

Answer 15

Blood vessels become thinner

No retina is left

Question 16

what genes are mutated in leber’s congenital amaurosis

Answer 16

RPE65 mutations

Question 17

is the eye a immune privileged area

Answer 17

yes

Question 18

where are injections in the eye given

Answer 18

subretinal

Question 19

what is the treatment for leber’s congenital amaurosis

Answer 19

Needle underneath the retina which is where it is needed

It is taken up by the RPE5, which is where it is needed.

Question 20

what eye condition may hinder the treatment for lebers congenital amaurosis

Answer 20

Amblyopia- lazy eye with low visual acuity

Question 21

define Cytochrome P450 oxidase

Answer 21

Multigene family of enzymes found predominantly in the liver

Question 22

what is the function of Cytochrome P450 oxidase

Answer 22

metabolic elimination of most drugs

convert pro drugs into their active form (codeine to morphine by CYP2D6)

Question 23

Which Cytochrome P450 oxidase is highly polymorphic and occasionally not present and functional

Answer 23

CYP2D6

Question 24

what Cytochrome P450 oxidase enzyme is the rate limiting step in converting tamoxifen to its active metabolite endoxifen

Answer 24

CYP2D6

Question 25

define personalised medicine

Answer 25

Information about a persons genotype or gene expression profile used to tailor medical care