Is it possible that sickle cell will be conquered in our lifetime? The possibilities are endless and recently we had a chance to watch CBS’s “60 Minutes” and the story of Jennelle Stephenson. When the documentary piece was over Jennelle appears potentially cured thanks to an experimental gene therapy being tested at the NIH Clinical Center in Bethesda, MD. This research is groundbreaking but it’s part of a variety of innovative strategies now being tested to cure SCD and other genetic diseases that have long seemed out of reach.

The treatment protocol involves using gene editing to increase levels of fetal hemoglobin (HbF) in the red blood cells of those with sickle cell. A short time after birth, babies usually stop producing HbF, and switch over to the adult form of hemoglobin. But there are individuals who continue to make high levels of HbF .
Individuals with HPFH are entirely healthy but those with SCD who also have HPFH live with an extremely mild version of sickle cell disease. So, researchers have been exploring ways to boost HbF in everyone with SCD. This means that gene editing could possibly provide an effective, long-lasting way to do this.

Clinical trials of this are already underway. New findings reported in Nature Medicine show it may be possible to make the necessary edits even more efficiently, raising the possibility that a single infusion of gene-edited cells might be able to cure SCD [1].

The American Society of Hematology is helping hematologists fight the battle to conquer blood diseases worldwide.

This article was Posted on April 2nd, 2019 by Dr. Francis Collins on the website.
You can read it in its entirety.

[1] Highly efficient therapeutic gene editing of human hematopoietic stem cells. Wu Y, Zeng J, Roscoe BP, Liu P, Yao Q, Lazzarotto CR, Clement K, Cole MA, Luk K, Baricordi C, Shen AH, Ren C, Esrick EB, Manis JP, Dorfman DM, Williams DA, Biffi A, Brugnara C, Biasco L, Brendel C, Pinello L, Tsai SQ, Wolfe SA, Bauer DE. Nat Med. 2019 Mar 25.