Gene therapy has saved many lives but there also have been other cases where the treatment has not helped cure the patient’s genetic disorder and they have died. Take Jesse Gelsinger for an example. He suffered from an X linked genetic disorder of the liver so he was injected with an adenoviral vector carrying the corrected form of the gene (Couzin & Kaiser, 2005). This treatment was not a success and Jesse ended up dying four days later. He suffered from a massive immune response that was triggered by the use of the adenoviral vector that was injected in him to transport the correct gene into his cells, which caused him to have multiple organ failures and his brain to die.
Gene Therapy has been tested a Jacob sheep model, a rare sheep breed. It found the biochemical mechanism in the sheep was identical to humans and a mutation that resulted in an exon deletion via slipicing. Gene Therapy is still being researched by The Tay-Sachs Gene Therapy (TSGT) Consortium, so it is not officially being used. Since, 1980, 20 people have received Caravan gene therapy. This is a possible option for my child since, of most of the parents said their child benefited from the therapy but is a little risky since not many tests have been
There has also been talk of gene therapy to help improve immune deficiencies, specifically the first and most prevalent deficiency called severe combined immunodeficiency-X1 (SCID-X1). SCID-X1 contains a variety of inherited types, one of which occurs due to a mutation of the gamma-c gene, this gene codes for cytokine receptors. The cytokine receptors help maintain proper communication between white blood cells. When they become defective, T lymphocytes don’t function as they normally should (Panno 38). As a ramification the body does not recognize invading agents or activate the immune system. The second form of SCID pertains to a mutation malfunction as well, but in the adenosine deaminase gene (ADA). A toxic buildup of adenosine
Severe combined immunodeficiency (SCID) is a group of diseases characterized by T-cell counts under 1,500 cells per mm3, which is a phenomenon known as T-cell lymphopenia (TCL) [1, 2]. This inherited primary immunodeficiency leads to the absence of T cells, however B cells or natural killer (NK) cells may be present but are not always functional . The lack of functional immune cells leads to recurrent infections in infancy and childhood and the disease is fatal in the first two years of life if it is not treated . The exact number of babies born each year with SCID is not well known, as different countries have different inclusion practices
Gene therapy is an experimental technique that uses genes to treat or prevent disease. It is currently only being tested for the treatment of diseases that have no other cures. There are three different methods of gene therapy: Replacing a mutated gene with a healthy copy, inactivating a mutated gene and introducing a new gene in the body to help fight the disease. This can only be used on certain diseases and is very risky. (Genetics Home Reference) Usually gene therapy uses a vector, typically a virus, to get the gene to the correct cell. When it is inside, the cell's gene-reading machinery uses the information in the gene to build RNA and protein molecules. The proteins can then carry out their job in the cells. (What is Gene Therapy?) Gene therapy is not available for familial dysautonomia at this moment. Even if gene therapy were an option I would not want to go through with the procedure because it is very risky and has a very high chance of you getting even sicker and a very low chance
Scientifically speaking, Severe Combined Immunodeficiency (SCID) is a very rare disease that can be deadly. It causes a child to have a very weak immune system. As a result, the child is unable to fight off even mild infections. The disease is also known as the “boy in the bubble” syndrome because living in a normal environment can be fatal to a child who has it. This disease is passed down from parents to child (inherited).
Even if this disorder is uncommon it’s important to know the basics about it to prevent severe damage in the future. Severe Combined Immunodeficiency (SCID) was first reported by Edward Glanzmann and Paul Riniker in 1950. They were treating two Swiss infants with the condition, lymphopenia, which is an abnormal low level of lymphocytes in the blood. They died of infection within a year. (Buckley). Although, it wasn’t until 1980 when the public became aware of the disorder. There was a well-known baby who was diagnosed with SCID that year. There were a lot of news stories about a “bubble boy” who was born without a working immune system. His brother was also born with the same
When putting the “Bubble Boy Disease” in the past, gene therapy can be the time machine to send it back. Gene therapy can help replace infected cells in a patient’s body with healthy, new cells. SCID is a severe disease that can be greatly impacted by gene therapy. New advancements are being made and a gene therapy method can be used to transfer bone marrow into the patient, instead of transferring the cells. The future of gene therapy can help cure SCID.
SCID is characterised by the complete loss of immunity that is provided by the T cells as well as reduced functioning of C cells. Every year, the condition affects between 1:50,000 and 1:100,000 newborn babies. According to Rezaei, et al., (2008), the rate of incidence of SCID in newborn babies may be even higher than this due to the number of cases of children who die before doctors can make a positive diagnosis of the disease (Allenspach, et al., 2003). Without a bone marrow transplantation or gene therapy intervention, X-SCID is fatal within the first two years of life. Children who are born by parents without a comprehensive family medical history are usually hospitalized between the ages of six months and three years due to the development of oral candidiasis, recurrent episodes of infections that are caused by opportunistic parasites like Pneumocystis, and failure to develop lymph nodes and tonsils. In addition to this, patients with X-SCID may have rashes, diarrhoea, fever, coughs, and other bacterial infections like pneumonia, and sepsis (Rezaei, et al.,
Severe combined immune deficiency (SCID), is developed by an unusually and recurring severe infection or cancer (2014, Patton & Thibodeau p434). The boy in the bubble immune system is ineffective, feeble, and defenceless against infection. The purpose of isolating him is to keep him free from germs and viruses. Placing him in isolating will provide a sterilized environment with filtered air, to eliminate infections. One way to cure the bubble boy gene is by injecting bone marrow stem cells, into the patient. The bone marrow stem cells contain a missing enzyme gene that can make the immune system healthy. Individuals suffering with this rare disorder may consider a bone marrow transplant. (2014, Patton & Thibodeau) A bone marrow transplant will help cure the disease and prevent it from becoming fatal.
In 1990 the first gene therapy procedure gained approval and a four-year-old girl with SCIDs disease was finally able to fight off a simple cold. She is now able to live a normal life with the help of continued treatment of gene therapy. Although gene therapy is an innovative and ideally favorable procedure when it comes to treating diseases, cancer, or inherited disorders, it is still a delicate procedure and is continuously studied to insure it is not only effective but also and most importantly safe. In order to insure the safety of patients a gene therapy drug must get the approval of the FDA before becoming available, as every drug must do. Since gene therapy is still very experimental; there are only a few gene therapy drugs that have been approved by the FDA to treat patients. However, on August 30th, 2017 history was made when the FDA approved Kymriah, the first CAR-T cell therapy drug to be available in the United States. Kymriah is a one-time treatment for patients with B-cell acute lymphoblastic leukemia, it was developed through the research collaboration of Novartis and the University of Pennsylvania, and it is manufactured for each individual patient. Kymriah’s only drawback would be the price tag of $475,000 for a course of treatment, however Novartis plans to wave the fee for patients where Kymriah is not successful.
There are three techniques that researchers are working on. The first and most common is ex vivo ( or "outside the living body") therapy. The defective cells are removed from the patient and replaced with the normal DNA before returning to the body. This therapy targets the blood cells because many genetic defects alter the functioning of one type of these cells or another. But since blood cells have limited life spans follow-up treatments are required. Future efforts will most likely target stem cells of the bone marrow. Stem cells are ideal for gene therapy because they appear to be immortal. Researchers have obtained stem cells from human bone marrow, but they are having difficulties getting genes into the cell as well as inducing the cells to produce many new blood cells (Anderson, 1995).
Cystic Fibrosis (CF), is another disease that is taking to genetic therapy. If a corrected gene could somehow enter the cells that line the lungs, it will then start producing the critical proteins that CF patients need. This has been done, although in small quantities. These results, however, have raised hopes that sometime in the future, CF may be curable.
If a treatment is implicated before the child is born – germline gene therapy – he or she could lose all trace of that defective gene, and therefore wouldn’t pass the disease on to future generations. In somatic gene therapy, treatment is conducted when the patient is an