Gene Therapy:
The Future of Modern Medicine
Although gene therapy has made progress over the year and will continue to do so, there has been debate surrounding the scientific phenomenon.
Research
Parkinson's
Neurons break down and die.
Heart Disease
It can lead to a heart attack or a stroke.
Cystic Fibrosis
This illness causes mucus to overfill the lungs.
Hemophilia
It causes excessive bleeding.
Chronic Granulomatous Disease (CGD)
This disease can lead to infection in areas such as the liver.
What diseases can gene therapy treat?
CHRONIC GRANULOMATOUS
DISEASE
Chronic Granulomatous disease (CGD) is an illness that causes the sufferer to have a weaker immune system. This makes them unable to fight off even common germs and leaving them vulnerable to infections. The reason is because this illness makes it hard for neutrophils to produce hydrogen peroxide which is a necessity to fight off certain bacteria and fungi. So all of this can cause serious infections in vital organs such as the lungs, liver or brain.
​
So GENETHON which is a a not for profit French biotechnology laboratory conducted a clinical trial to treat those with CGD using gene therapy. Although there have been previous studies done involving gene therapy, this is the first of its kind to use a lentivrus as a vector.
​
The trial will proceed as follows:
-
bone marrow cells are collected in the off chance that the bone marrow won't recover following the treatment
-
it can be done by inserting a needle into the hip bones or by injecting chemicals into the skin for 5 days​​
2. more bone marrow cells will taken and taken to a laboratory
3. the new gene is placed inside
4. now the new bone marrow is returned to the
patient
​
​
These are the parts of the body that can succumb to certain infections due to CGD
CYSTIC FIBROSIS
Cystic fibrosis is a a genetic disease that causes constant lung infections as well as making it more difficult for the the person to breathe as time progresses. What happens is that there is a malfunctioning gene that causes an excessive amount of mucus to build up in the lungs, pancreas, as well as other organs. So in the lungs, the mucus causes the airways to be blocked off therefore leading to infections, lung damage, and respiratory failure because of there was bacteria trapped. Then in the pancreas, the mucus prohibits the digestive enzymes from breaking down the food and getting the valuable nutrients.
​
​
​
​
​
​
​
​
There was a study done by the collaborative forces of the University of Oxford, Imperial College London, the University of Edinburgh, Royal Brompton & Harefield NHS Foundation Trust, NHS Lothian, and other centers in the UK and US that represented the UK Cystic Fibrosis Gene Therapy Consortium. For this trial, they decided to use a bubble of fat as a vector to deliver the new gene. It was transported to the lungs using a nebuliser. This was a phase 2b trial meaning that it was meant to test the effectiveness and safety. The overall result was a 3.7% improvement in lung function when compared to the placebo.
Hemophilia is a rare, inherited medical condition where the blood doesn't clot normally causing the person to bleed a lot more than average after an injury. This condition causes a lack of blood clotting proteins which leads to excessive bleeding from cuts, deep bleeding within the body and bleeding into the brain.
​
There was a groundbreaking clinical trial that took place in London led by Barts Health NHS Trust and Queen Mary University of London. The ones who were involved with the trial showed significant improvement because they started to show normal levels of the missing blood clotting proteins. The researchers had injected the patients with a duplicate of the protein they were lacking. The patients were consistently checked up on for 19 months and the results showed that 11 out 13 were having normal or nearly normal amount of the blooding clotting proteins. Also, all 13 patients were able to stop their previous treatments.
​
Jake Omer who received gene therapy for hemophilia said, "The gene therapy has changed my life. I now have hope for my future. It is incredible to now hope that I can play with my kids, kick a ball around and climb trees well into my kids' teenage years and beyond. The arthritis in my ankles meant I used to worry how far I would be able to walk once I turned 40. At 23 I struggled to run 100m to catch a bus; now at 29 I'm walking two miles every day which I just couldn't have done before having the gene therapy treatment."
​
​
​
​
​
​
HEART DISEASE
Heart disease is a disease that involves issues with the heart and the blood vessels. Heart disease is associated with atherosclerosis, which is where plaque builds up on the arteries' walls. This causes difficulty for the blood to be able to flow through and can lead to a blood clot. That in turn can lead to a heart attack or stroke.
​
Researchers wanted to figure out if only dose of the gene, LeXis, could potentially halt the progression of heart disease. So they tested this out in mice that had familial hypercholesterolemia and they successfully repress the cholesterol levels to reduce the amount of plaque. Then in a preclinical trial, it was discovered that Lexis reduced cholesterol and blockage in the arteries. Furthermore, it lowered the amount of fat in the liver cells. In the next stage of the study, researchers had the goal of confirming what they discovered by testing it in larger animals as well as using other treatments along with it.
​
PARKINSON'S
Parkinson's disease is an ailment of the nervous system that worsens overtime. It can lead to stiffness, rigid movements, speech changes, loss of automatic movements, and much more. The cause of Parkinson's is a loss of nerve cells in the area of the brain called the But there can also be additional problems such as depression, bladder problems, blood pressure changes and many more.
​
​
​
There was a new approach designed to treat Parkinson's using gene therapy. Professor Mazarakis, who worked with Oxford Biomedical, tackled the disease by delivering 3 genes that have the necessary formula to produce the enzymes that create dopamine. They are transported to the brain by a lentivirus. They had tested this out in monkeys and discovered that they could freely climb their cages, although before they barely had the ability to move. This motivated Professor Mazarakis and his collaboration with Professor Stéphane Palfi’s group at the University of Paris to making this possible for human. So, it was tested out on a small group of patients by having surgery to have the virus implanted into their brain and the results were positive. On movement tests, the patients had an increased score of 30% on average and their quality of life got better. The first couple patients who received the surgery were followed up on and it was shown that dopamine was being created in their brain where it wasn't before.
