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Lecture 5

BIMS 201 Lecture Notes - Lecture 5: Spina Bifida, Snare Drum, Progeria

Biomedical Science
Course Code
BIMS 201
Elizabeth A.Crouch

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Progeria Discussion-Notes
Only about 100 individuals worldwide have Progeria (extremely rare)
Genetic disease
Almost all cases=new mutations bc early deaths occur=not passing genes on
Scientifically, what’s the value of research on rare diseases?
oInsight into other diseases that aren’t as rare and normal aging process studies
oAll life has value and breakthrough will help those fams
oLook @ genetic hotspots and how de novo (new) mutations in this area occur
and extrapolate that to other hotspots
oLook @ diseases bc they can become > common due to enviro./genetic changes
Ex: anencephaly studies from 15 years ago has helped us study spina
bifida and Zika virus
Brain/neuronal dev. and enviro. influence on those dev. processes
What are some obstacles Sam faced in real life?
oHe couldn’t be as active as a child and there were things he couldn’t accomplish
oSnare drum w/harness to help him carry
oHe was willing to push boundaries/his limitations (emotional triumph)
oDealing w/public’s perception of who he is
oHe was + and not bitter; didn’t feel sorry for himself and have a pity party
High self-esteem
What’s the value of research on Progeria from human perspective? What did Sam teach
oIt’s not about what you can’t do, but rather what you can do.
oDon’t let your circumstances get the better of you.
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