Thalassemia and sickle cell disease are diseases with debilitating symptoms. Both affect haemoglobin – a protein found in red blood cells. Haemoglobin has a quaternary structure with four polypeptides, each with a prosthetic group (haem group) to bind to an oxygen molecule. Haemoglobin binds to oxygen at the alveoli in the lungs and delivers oxygen to the respiring tissues all around the body. When this process malfunctions, the person is left short of breath, with no appetite or energy to carry out even normal activities.

The current treatment is to have painful and time-consuming monthly blood transfusions for life. But Biology has offered up an alternative treatment to these diseases – a one-off treatment of gene editing can be used to prevent the symptoms – a functional cure.

Stem cells are collected from the bone marrow and gene editing is carried out so that when the stem cells differentiate they will contain high quantities of foetal haemoglobin. These stem cells belong to the patient so when they are put back into their body, there is no immune rejection.

The patient has to undergo chemotherapy to destroy all disease producing bone marrow stem cells. Then the gene edited stem cells are re-infused. Now back in the bone marrow, they divide by mitosis and differentiate into functional red blood cells without causing symptoms.

As you can see in this heartening story, it allows children to be able to do activities, like PE, that they haven’t been able to do before.

Download the article from the bbc.co.uk/news page here