2023 has been a tragic year with murderous conflicts between Russia and Ukraine as well as Israel and Hamas spreading to some other neighbouring regions too. We have witnessed severe droughts and floods caused by climatic changes brought about by humanity’s excessive consumption of fossil fuel and other natural calamities such as killer earthquakes in Turkey and elsewhere. Migration of peoples leading to tragic drownings and refugee crises in the USA and Europe were another source of tragedies. People all over the world have lost their buying power due to high inflation and dramatic price increases leading to an increased poverty level.
Amidst all this depressingly devastating news, the one ray of hope, sunshine and joy for humanity has been provided by science and more specifically genetics. For the first time ever, in 2023, a revolutionary therapy has been approved by the authorities in USA and Europe that makes a dream come true: the application of CRISPR/Cas9 gene splicing technology to cure the debilitating inherited diseases Sickle Cell and Beta Thalassemia.
Our red blood cells are essential to transport oxygen to all the organs and tissues of the body. Sickle cell disease (SCD) is an inherited blood disorder that affects the red blood cells, which are essential for carrying oxygen to all organs and tissues of the body. A mutation in both copies of the haemoglobin beta (HBB) gene on chromosome 11 inherited from carrier parents i.e. the parents carry a mutation in only one copy, makes the red blood cells rigid and hampers the transport of oxygen. The disease causes anemia, severe pain, organ failure and premature death.
Beta Thalassemia caused by a similar mutation causes anemia, jaundice, fatigue and shortness of breath.
As a first therapy of its kind, CASGEVY™ (exagamglogene autotemcel [exa-cel]) launched by Vertex Pharmaceuticals Incorporated and CRISPR Therapeutics, is made specifically for each patient, using the patient’s own edited blood stem cells, and increases the production of a special type of hemoglobin called hemoglobin F (fetal hemoglobin or HbF) that is present at the fetal stage but disappears after birth. Thus, it does not directly undo the mutation on chromosome 11 but overcomes the problem via hemoglobin F synthesised by the patients own stem cells modified via CRISPR/Cas9 for this purpose.
The patient’s blood is taken in hospital, the stem cells are isolated and edited using CRISPR/Cas9 in a laboratory and subsequently administered to the patient during a one-time infusion.
There are many other CRISPR/Cas9 - based therapies in the pipeline designed to cure different types of cancers and other mutation-induced diseases. We can be hopeful that genetics will bring more good news and cheer in 2024.
A very happy and healthy NEW YEAR 2024 to all the readers of my blog.
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