Scientists may have finally cured a genetic disorder using gene therapy. Three years ago, a patient with a blood disorder called beta-Thalassaemia got gene therapy. Today, he no longer needs his monthly blood transfusions.
Many genetic disorders happen because of "broken" genes. The idea behind gene therapy is pretty simple in theory. Scientists try to put a working version of the broken gene into the patient's cells. The working gene makes up for the broken one, and the disorder is cured.
People with severe Thalassaemia depend on blood transfusions to give them working red blood cells. A type of bone marrow transplant has been used to try to cure Thalassaemia, but it's hard to find compatible donors. And even if a donor can be found, there's still a risk that the patient's body will reject the transplant. All these problems mean that around 1 in 10 bone marrow transplants have fatal complications.
Also, beta-Thalassaemia is a disorder of blood cells. That allows doctors and scientists to more easily remove cells from the patient, insert the new working gene, and put the cells back. Putting in the new gene into cells outside the patient's body lets scientists get away with only "fixing" a few cells.
The report that gene therapy may have worked for a beta- Thalassaemia patient is great news for a lot of people. It's definitely exciting for other patients with the disorder, since it might allow them to live transfusion-free. Not only that, but if scientists have developed a successful gene therapy system, that may be good news for people with genetic disorders.
It's also a step forward for scientists and doctors working in the field of gene therapy. It has been hard and often frustrating work for many years. Fixing human genes in live cells can be a tricky and unpredictable process and there have been a lot of problems developing the technology. This research could mean that they've finally gotten over many of those hurdles.
For gene therapy, scientists change a retrovirus so that it doesn't cause disorder. They make sure that all it can do is insert the right gene into the patient's DNA.