CeaseVille
Chronic granulomatous disease (CGD), one form of which is called p47GCD, is a condition wherein the affected people can't generate and pump electrons into tiny membranous sacs within immune cells. Normally, the pumped-in electrons generate reactive oxygen species in those little sacs that rip up invading bacteria and fungi. Thus, people with p47GCD, which is inherited, can't fight off common infections.
The gene affected in p47GCD is called p47phox, the product of which is a protein that plays a key role in the formation of an electron generator called NADPH oxidase. The inherited mutation in p47phox that messes up the electron generator has been known for some time. The trouble has been that fixing messed up 'loss of function' mutations has been very, very hard, indeed.
Now, an amazing technology called 'prime' editing, which is CRISPR-based, has been used to fix the inherited p47CGD mutation in patient stem cells that were then coaxed into becoming into immune cells with the newly corrected p47phox gene.
Two patients have received the treatment so far and it appears to be working in the short term. The work has been peer-reviewed and it has just been published in the New England Journal of Medicine. The following is the final sentence from that paper's abstract:
Chronic granulomatous disease (CGD), one form of which is called p47GCD, is a condition wherein the affected people can't generate and pump electrons into tiny membranous sacs within immune cells. Normally, the pumped-in electrons generate reactive oxygen species in those little sacs that rip up invading bacteria and fungi. Thus, people with p47GCD, which is inherited, can't fight off common infections.
The gene affected in p47GCD is called p47phox, the product of which is a protein that plays a key role in the formation of an electron generator called NADPH oxidase. The inherited mutation in p47phox that messes up the electron generator has been known for some time. The trouble has been that fixing messed up 'loss of function' mutations has been very, very hard, indeed.
Now, an amazing technology called 'prime' editing, which is CRISPR-based, has been used to fix the inherited p47CGD mutation in patient stem cells that were then coaxed into becoming into immune cells with the newly corrected p47phox gene.
Two patients have received the treatment so far and it appears to be working in the short term. The work has been peer-reviewed and it has just been published in the New England Journal of Medicine. The following is the final sentence from that paper's abstract:
"...NADPH oxidase activity was observed in neutrophils (i.e. a key subpopulation of immune cells with the little electron-pumped sacs that whack bacteria and fungi) within 1 month and was maintained for 6 months and 4 months as of the last follow-up visit in Participants 1 and 2, respectively. These results support further investigation of prime editing of CD34+ (stem) cells to treat p47-CGD..."Note: the stuff in the brackets, above, is mine and is meant only to be explanatory
This is a truly impressive early stage potential therapy whose development required the melding of fundamental, translational and clinical life science research. Ultimately, its further development could produce an efficient, longterm treatment for this rare but devastating disease.
However, will the development of this potential therapy continue?
Stay tuned...
.
However, will the development of this potential therapy continue?
Stay tuned...
.
3 comments:
these are excellent results. Hopefully, this continues with further successes.
I know it is a small sample but it is wonderful !
I would say the development will continue, but definitely not in the U.S.A.
Good New Years news of course and science continues, despite the any/vax/anti science crowd, who choke the media with their "free speech" denials of science.
I am tired of the anti-science crowd and I know a few; for far too long they have been given a soapbox to spread their bile.
We progress because of science, we survive because of science and it ever so good to see new discoveries are being made in spite of the seemly neanderthals who deny almost everything.
Post a Comment