The cure for Sickle Cell is a regular hot topic with the Sickle Cell and health communities, with people affected constantly hunting for what may closely be hope.
About 20 years ago scientists and researchers made a rather promising discovery: they had decoded the genes that makes us human otherwise termed the ‘genetic blueprint’ that forms a human being. The hope was to carry this genetic blueprint and advance it to what has now become Gene Therapy. Gene therapy is a form of therapy that targets defaulting genes responsible for genetic diseases such as sickle cell anemia, down syndrome, Alzheimer's, Thalassemia, viral infections and some cancers, to mention a few. This technique was developed to use a healthy copy of one’s genes, replacing the mutated gene causing disease thereby deactivating the mutation or disease and introducing healthy new gene into the body.
Much like Bone Marrow Transplant, gene therapy has gained traction from its experimental phases and now presents a positive avenue for a cure. The Genetic Home Reference (a U.S body working with genetics) has explained the process as a copy and paste sort of process. A gene that is inserted directly into a cell usually does not function. Instead, a carrier called a vector is genetically engineered to deliver the gene. Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell. The viruses are modified so they can't cause disease when used in people. Some types of virus, such as retroviruses, integrate their genetic material (including the new gene) into a chromosome in the human cell. Other viruses, such as adenoviruses, introduce their DNA into the nucleus of the cell, but the DNA is not integrated into a chromosome. The vector can be injected or given intravenously (by IV) directly into a specific tissue in the body, where it is taken up by individual cells. Alternately, a sample of the patient's cells can be removed and exposed to the vector in a laboratory setting. The cells containing the vector are then returned to the patient. If the treatment is successful, the new gene delivered by the vector will make a functioning protein. (https://ghr.nlm.nih.gov/primer/therapy/procedures).
Going beyond the understanding of Sickle Cell being caused by genetic incompatibility in genetics, this disease is simply caused by a mutation in our DNA; where an ‘A’ gene is supposed to be, it is “misplaced" with a ‘T’ gene. A process the genetic folks describe as a mistake in the genetic formation. According to Dr. Collins of NIH, he attests that the double helix of DNA is made up of billions of pieces of genetic information, out of all that, it's just one error in the DNA code -- a "T" that should have been an "A" -- that causes sickle cell anemia. Fix that error, and you cure the disease. In 2017, a sickle cell patient began her process of gene therapy in an effort to cure her, and its been a steady journey since. Follow her story here.
Following recent resurfaced headlines of gene therapy as a cure for sickle cell disease and its very controversial process of using one of the most feared virus - HIV. Now this is disheartening news that has caused massive mass panic especially with patients and caregivers. But rest assured, a patient isn’t actually getting HIV virus into their system, rather the process is to take a patient’s stem cells and transporting them via the HIV as a carrier. "We take the HIV envelope and we take out the letter that actually encodes for the bad stuff, the virus, but we leave the envelope that allows it to get into cells. We put in what I call a new letter, a letter that spells the right kind of hemoglobin. So now it’s in an envelope and it delivers it into the stem cells of someone with sickle cell disease. Then it produces that normal hemoglobin,". This approach according to Kanter has also been a success with Thalassemia patients. So, the question remains - if I go through this treatment will I become infected with HIV? The answer remains no. The virus used to carry healthy stem cells to correct the genes simply delivers, without its virus so there is no risk to getting the virus itself, however, much is yet to be done to ease the process or its breakdown to layman’s understanding and comprehension. But we are not exactly dealing with taking pills to fix the problem. A problem deep within our very framework requires taking a deep dive into the core to “tweak” it or rather, fix it. Hopefully this will come sooner rather than later, the same has applied to Stem Cell and Bone Marrow Transplants, being available process of cure.
When you look at things, one will find that gene therapy sounds or looks easier to the latter mentioned and as a benefactor of Bone Marrow Transplant who has now been cured for 12 years; i’d say this is a win. We look forward to this research becoming more and more simplified, risk-free as much as possible and ultimately funded, sponsored and accessible to patients worldwide.
To read more about Gene Therapy, click here
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