Sickle_Cells By OpenStax College - Anatomy_Physiology, CC BY 3.0

Patients cured of 2 nasty inherited blood diseases using gene editing and gene therapy

Embargoed until: Publicly released:
Peer-reviewed: This work was reviewed and scrutinised by relevant independent experts.

Experimental study: At least one thing in the experiment was changed to see if it had an impact on the subjects (often people or animals) – eg: changing the amount of time mice spend on an exercise wheel to find out what impact it has on weight loss.

Case study: A study involving observations of a single patient or group of patients.

People: This is a study based on research using people.

US and German scientists say they've cured a pair of nasty inherited blood diseases - beta thalassemia and sickle cell disease -  using the gene editing technique CRISPR-Cas9. The researchers treated two patients, one with each disease, using gene-edited stem cells from healthy donors. The edited cells were implanted into the patients, whose own blood cell production had been suppressed. A year later, they studied the patients' blood and bone marrow cells and found high levels of the edited versions. Both patients were now independent of the blood transfusions usually required to treat these diseases, and the patient with sickle cell disease no longer suffered from blockages in their blood vessels, one of the symptoms of that disease. Both beta thalassemia and sickle cell disease cause problems with the production of haemoglobin in blood cells, meaning oxygen can't be properly distributed around the body. Another, unrelated, study by US scientists found a gene therapy technique called post-transcriptional genetic silencing successfully boosted haemoglobin production in six sickle cell disease patients, and reduced or cleared symptoms of the disease.

Journal/conference: NEJM

Link to research (DOI): 10.1056/NEJMoa2029392

Organisation/s: Children's Hospital at TriStar Centennial, USA (CRIPSR stduy) and Harvard Medical School, USA (gene therapy study)

Funder: CRISPR Therapeutics and Vertex Pharmaceuticals (CRISPR study) / National Institutes of Health (gene therapy study)


  • Massachusetts Medical Society
    Web page
    CRISPR paper. The URL will go live after the embargo ends
  • Massachusetts Medical Society
    Web page
    Gene therapy paper. The URL will go live after the embargo ends

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