genetics Flashcards
examples of monogenic disorders that have a cardiology effect
marfans; long QT; familial hypercholesteralaemia; Fabry’s disease
what is Fabry’s disease
inherited neurological disorder that occurs when the enzyme alpha-galactosidase-A cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to the body => increase fat accumulation in blood vessels
what is the liability threashold model
a shift in the distribution curve across the genome so that a greater proportion of people under the curve meet the threashold for being affected
what effect can polygenic mutations have that means someone is likely to present
additive effect
why is genetic testing important in pharma management
genetic variation affects protein structure/function, expression of key metabolic pathways and drug targets
