Part 1: A focus on genetic disorders
As we enter a year of promising new medical advancements, from the introduction of the first Proton Beam Therapy centre in the UK to Artificial Intelligence that can analyse heart scans, I thought I would provide a summary highlighting the amazing achievements doctors and scientists accomplished last year in the world of genetics.
This neurodegenerative disease damages nerve cells within the brain. Experts at UCL have created an experimental drug (which is injected into the spinal cord) that aims to silence the gene responsible for creating the damaged protein huntingtin. Usually, this protein is essential for brain development; however, an error in its DNA can lead to the synthesis of a faulty version that kills brain cells. Huntington’s Disease has for many years taken numerous lives and with symptoms appearing around the ages of 30-50, the disease can affect movement, behaviour and cognition. Yet the introduction of this exciting new therapy holds promise for many sufferers, and according to Professor John Hardy:
“I really think this is, potentially, the biggest breakthrough in neurodegenerative disease in the past 50 years.”
Many of you would have read about this genetic disorder in your Biology textbooks, and now a new gene therapy has been introduced for Haemophilia A (which is the most common form). People with this version of the disorder are unable to produce clotting factor VIII, thus hindering the coagulation cascade process that is vital for clotting wounds. The therapy works on the basis of transmitting genetic instructions for factor VIII to the patient’s liver using a genetically-engineered virus, which acts as a vector. Although it is currently quite expensive and there is still a lot more research to be done, 11 out of 13 people who have been trialled so far are now off conventional treatment, and are able to produce higher levels of the protein required to stop bleeding.
“To offer people the potential of a normal life when they’ve had to inject themselves with factor VIII every other day to prevent bleeding is transformational.” – Prof John Pasi
Sickle Cell Anemia
And finally, scientists made news when using cutting-edge treatment to alter the DNA coding for sickle-shaped red blood cells. By removing the bone marrow of a French teenager who suffered the defect, they used a virus to inject it with the correct genetic code, before replacing it back. This altered the production of haemoglobin within the cells, re-correcting the shape of red blood cells to healthy, biconcave disks instead of crescents. The procedure has proved to be relatively successful, as “so far the patient has no sign of the disease, no pain, no hospitalisation. He no longer requires a transfusion so we are quite pleased with that.” (Philippe Leboulch, March 2017)
Hopefully, if successful, these pioneering treatments will save countless lives all over the world – it is truly amazing to witness cutting-edge science and technology and the incredible workforce behind this all! I hope this was an interesting read, and please keep tuned for part 2, where I will talk about other major accomplishments in the world of medicine. In the meantime, please rate and comment your thoughts below!