Thread by @c0nc0rdance

Houston area teen becomes first person to undergo autologous stem cell therapy for sickle cell.

Let's talk about how we could end sickle cell disease in our lifetimes! The technology exists, the trials are already underway.
click2houston.com/news/local/202…

Sickle cell is a blood disorder that usually arises from a single mutation in the beta-globin gene, resulting in sickled red blood cells.

Symptoms are peripheral nerve pain, anemia, shortness of breath, dizziness, pallor, stroke. It's a terrible disease burden for patients.

We have conventional therapy: bone marrow transplants from compatible donors transfer certain stem cells that can produce non-sickle red blood cells.

But only 20% of patients will find a compatible donor.

Enter gene editing technology! 3 tactics can be used:

1. Direct replacement, at the DNA level, editing the beta-globin gene back to the wild type form.
2. Adding a *functional* beta-globin gene to the genome using virus.
3. Activating a normally dormant fetal globin gene.

Source of figure above, and additional details are found here:
nature.com/articles/d4158…

In the case of the Katy teen (Helen Nduku, 17), she'll have her own bone marrow removed, genetically modified in a special flask/container by one of these three strategies, then reinjected back.

She's her own perfectly matched donor!

Best wishes to her & a speedy recovery!