Stuff like this gives me a really nice, warm pride in the human race. As if this is what we were born for: to get out there and do something incredibly hard and life-threatening and on a monumental scale. I'm reminded of reading the transcripts of Operation Epsilon [0]; the foremost scientists in the world didn't think we could make an atomic bomb, but by concentrating incredible amounts of incredible people we got there in a few short years. Impossible things are frequently possible when a committed group of people set out to do them.
In particular, as the article notes, prion research is damned hard, and they had zero prior experience, and it's not the kind of thing you can put together yourself in your backyard with eBay supplies. But love and pure force of will pushed them forward and I don't think words could ever express how beautiful that is.
[0] Operation Epsilon, in a nutshell, was when we took a bunch of German nuclear scientists and put them in a bugged room and told them about Hiroshima and listened to their reaction, in order to figure out how close the Germans were to the bomb. I highly recommend reading the transcripts, they're fascinating.
Woah. Fatal Familial Insomnia (F.F.I.). Caused by a dominant mutation, so ~50% of children are affected. But typically not symptomatic until middle age. Damn.
Just another example of how evolution selects for/against or doesn't select for/against traits. If onset isn't until your 50s, it's plenty of time to reproduce. Granted there might be reduced fitness because older people won't be around as much to take care of children, but back during caveman days, very few people probably lived to their 50s.
Stuff like this gives me a really nice, warm pride in the human race. As if this is what we were born for: to get out there and do something incredibly hard and life-threatening and on a monumental scale. I'm reminded of reading the transcripts of Operation Epsilon [0]; the foremost scientists in the world didn't think we could make an atomic bomb, but by concentrating incredible amounts of incredible people we got there in a few short years. Impossible things are frequently possible when a committed group of people set out to do them.
In particular, as the article notes, prion research is damned hard, and they had zero prior experience, and it's not the kind of thing you can put together yourself in your backyard with eBay supplies. But love and pure force of will pushed them forward and I don't think words could ever express how beautiful that is.
[0] Operation Epsilon, in a nutshell, was when we took a bunch of German nuclear scientists and put them in a bugged room and told them about Hiroshima and listened to their reaction, in order to figure out how close the Germans were to the bomb. I highly recommend reading the transcripts, they're fascinating.
Woah. Fatal Familial Insomnia (F.F.I.). Caused by a dominant mutation, so ~50% of children are affected. But typically not symptomatic until middle age. Damn.
Just another example of how evolution selects for/against or doesn't select for/against traits. If onset isn't until your 50s, it's plenty of time to reproduce. Granted there might be reduced fitness because older people won't be around as much to take care of children, but back during caveman days, very few people probably lived to their 50s.
Huh.
Indeed, searching "autosomal dominant late-onset" does yield quite a few, in various species. Including autosomal dominant Alzheimer disease (ADAD).
Huntington's is also in this category. Although there may be anticipation (onset gets earlier after each successive generation).
Would be amazing to have a happy ending here. Such an inspiring story
Looks like there might be a happy end after all:
http://www.prionalliance.org/2018/12/03/end-of-the-year-upda...