Gene Therapy Tackles Sickle Cell Disease

A 15 year old teenager with sickle cell disorder is living medicine free after a receiving a gene therapy treatment

Around 275,000 infants are born with sickle cell disease each year; caused by a mutation in the haemoglobin gene, which morphs red blood cells into a unique sickle shape. This prevents proper oxygen carrying capacity and clogs up blood vessels throughout the body - eventually potentially leading to strokes and tissue death. The condition can be effectively cured by a stem cell transplant, but these are risky and it can be extremely challenging to find an appropriate donor. Gene therapy represents a great alternative solution to the condition. 

A new hope

A 15 year old teenager was given a new treatment for the disorder at Necker Children's Hospital in Paris in October 2014. Many of his blood stem cells appears to have taken up the healthy gene, and half of his red blood cells are expressing healthy haemoglobin. He has been medicine free since 3 months after the therapy. Bluebird Bio developed the therapy but the teenager was sponsored by a grant the French government. 6 others have also received the therapy but have responded less positively, suggesting it may need further development. The next step may be gene editing, in a bid to make all changes  a permanent fix.

"This work gives considerable promise for a solution to a very common problem. The results are quite good in this patient. It shows gene therapy is on the right track"

Read more at MedicalXpress