First Time Ever: Gene Therapy Reverses Sickle Cell Disease

Taking the matter into our hand. Image credits: Discover magazine

When Edward Jenner developed a vaccine that would prevent smallpox, way back in the 1700s, he was viciously portrayed by English clergy as having taken a weapon away from God. The Almighty had used plagues to punish people in the Bible, they reasoned, and Jenner had prevented him from doing that with smallpox.

However, in this age of digital technology even computers can detect cancer. People have moved on and  there is no majority that would make the same argument today.

But the question remains, can we just edit out the genes causing particular diseases? Is it ethical? More importantly are we ‘playing God ?’

Gene therapy is often accused of being ‘unnatural’ or ‘unethical’. But for the first time, scientists have reported an innovative gene therapy to successfully reverse sickle cell disease.

In a study published in The New England Journal of Medicine, scientists have altered the genetic code of bone marrow stem cells and ordered them to make healthy red blood cells.

While this is just one case study, comprising only a single French teenager, the signs are promising. The therapy could ultimately lead to an effective treatment for this crippling disease.


Sickle cell disease (SCD) is a genetic alteration, a kind of mutation, basically a typo. It is a lifelong condition caused by a faulty gene that affects hemoglobin, the main compound of red blood cells which is responsible for delivering oxygen to other cells.

The botched hemoglobin causes the cells to form a crescent or sickle shape, making it difficult to hold on the oxygen molecule.

People with sickle cell are often at an increased risk of becoming anemic or contracting serious infections.

Anemia is caused when red blood cells cannot carry enough oxygen around the body. This can cause tiredness and shortness of breath.

Some patients require regular blood transfusions – usually every three to four weeks – as a form of treatment for the condition.

Can gene therapy edit out these cells?
Red blood cells of sickle cell anemia disease. Image credits: Medscape

As we know, the Sickle cell is caused by a typo in the instructions for making the protein hemoglobin. Can we just not edit out the cause and insert a healthy one?

Yes, we certainly can. The doctors removed cells from his bone marrow and genetically altered it using a virus to compensate for the defect in his DNA responsible for sickle cell disease aka the gene therapy.

The corrected bone marrow cells were then transfused back into the patient.

Once introduced into the body, the newly altered genes would then produce healthy red blood cells instead of sickle cells.


The results revealed that half the patient’s red blood cells are now regular and healthy. He shows no signs of the Sickle cells and hasn’t needed any blood transfusions in three months.

Since the teenager was treated, he doesn’t have any pain, any complications. He is free of any blood transfusions. He goes to school and plays sports, ” said Dr. Philippe Leboulch, the author of the research and a professor of medicine at the University of Paris

Dr. Deborah Gill, Prof. at Radcliffe Department of Medicine told BBC News “I’ve worked in gene therapy and we make small steps and know there are years of more work. But here we have someone who has received gene therapy and shows no sign of the disease. That’s not a small step; it’s a huge step forward

She further adds, “I think it’s very significant, they’ve essentially given him his life back.

Even though this is the first major step towards treating Sickle cell disease, the doctors are still hesitant to call this a cure.

But of course we need to perform the same therapy in a larger cohort of patients to feel confident about the robustness.  Maybe, enough to propose it as a mainstream therapy ” says Dr. Deborah Gill.


Two other gene therapy studies for the treatment of sickle cell are underway in the U.S.—first at the University of California, Los Angeles and another at Harvard and Boston Children’s Hospital using a little different approach.

Dr. Stuart Orkin, a Boston Children’s Hospital doctor, says “This work gives considerable promise” for an answer to a very common problem.

He feels “The results are quite remarkable in this patient. It shows gene therapy is moving in the right direction.

Even though with recent advances in medical science, but there is no sure shot cure for sickle cell disease. Hopefully, gene therapies like this and treatments developed by scientists such as bone marrow transplants and blood transfusions may prove useful.

At this crucial juncture, we can only hope to reverse and cure the disease.

Call it unnatural or unethical, gene editing is here to stay. If science can be used to eliminate human suffering, then let’s get on with it.


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  1. 79Wallace says

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  2. MACKIE says

    Sickle cell anemia primarily attacks infants.. it’s incredibly painful and one feels helpless to ease the pain for this baby.

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