Thread by @antonioregalado

The dawn of gene-editing to cure inherited disease.

version 1 -- breaking sh*t

ir.crisprtx.com/news-releases/…

The diseases treated, sickle cell, beta-thalassemia, both caused wrongly shaped hemoglobin. that is what carries oxygen in the blood. painful diseases.

but some people with these diseases don't suffer much, because their bodies still produce fetal hemoglobin (whereas, in the rest of us, it's off).

One of many cases in which "strange" cases provide a map to treatment.

I think the way this treatment works is CRISPR employed to damage/disable expression of a protein called BCLA11, so less of that, which in turn allows expression of fetal hemoglobin again.

clever

These treatments seem to entail an autologous bone marrow transplant. Bone marrow cells removed, then some nasty chemo to kill off the rest. Then edited bone marrow cells returned to body, and hope it engrafts, or revives.

something not commented upon is that sibling bone marrow transplant already possible, but relatively little used. might indicate limited interest in this intensive treatment, esp. in resource poor places where diseases more common.

See this talk by Vence Bonham of the NIH on attitudes among sickle cell patients towards CRISPR
technologyreview.com/s/614360/crisp…

events.technologyreview.com/video/watch/ve…

Blog from NIH director describing the stratagem. directorsblog.nih.gov/2019/04/02/a-c…