This is a big deal, honestly. Catching Duchenne at birth instead of years later completely changes outcomes and it directly benefits Sarepta since Elevidys makes the most sense when used early, before irreversible damage sets in.
Hate to be the guy who asks this question but is this something that can be screened for prior to birth (via amniotic fluid, etc) and if so how early is it detectable?
I know nothing about this disease - is it a random thing or a genetic trait that turns up when both parents have a recessive gene?
I think it is X chromosome linked so it happens when mom is a carrier and has a son, the son has a 50% chance of having the disease. No clue on the screening before birth.
Actual-Currency7199 | a day ago
This is a big deal, honestly. Catching Duchenne at birth instead of years later completely changes outcomes and it directly benefits Sarepta since Elevidys makes the most sense when used early, before irreversible damage sets in.
GSDer_RIP_Good_Girl | a day ago
Hate to be the guy who asks this question but is this something that can be screened for prior to birth (via amniotic fluid, etc) and if so how early is it detectable?
I know nothing about this disease - is it a random thing or a genetic trait that turns up when both parents have a recessive gene?
warcraftWidow | 19 hours ago
I think it is X chromosome linked so it happens when mom is a carrier and has a son, the son has a 50% chance of having the disease. No clue on the screening before birth.
IronColdSky | 8 hours ago
I worked for a woman, she and three siblings all had Duchenne, both sexes. They were all self-sufficient until retirement age, but a hard life
Far_Out_6and_2 | 13 hours ago
To lazy to look up what it actually is
Edit: read the article so sad but good there is recognition now