1. If my child was diagnosed with a rare inherited disease, it would be quite unfortunate. However, I wouldn’t lose hope and try to do whatever I can to soothe the situation. In the modern era, there are an eclectic amount of tools that an ordinary citizen has access to. In order to learn more about my child’s disease, I would use the internet to search more information about the disease. Furthermore, public libraries are available throughout the country, so I can use many types of books to gain further knowledge on a particular subject.
Lastly, I can consult with a scholar who has expertise in the field that is pertinent to my child’s disease. Moving on, there are several ways I could find a clinical trial. First, I can use the web since there are also a wealth of disease specific websites that keep up to date lists of current clinical trials for a specific disease or condition. Second, CISCRP offers a free service, Search Clinical Trials, which is an easy way to find clinical trials in my area based on your geographic location, distance willing to travel and the medical condition.
Moreover, I could Plan to contact local clinical research centers with expertise in the medical condition. Some of these centers may be advertising for trials that are currently recruiting volunteers. Funds are also necessary in this predicament. To begin with, I am going to set a goal that I want to achieve. Then, Build a contact list of people, businesses and community outreach programs that may be able to help me. Also, contact every person that I know or have known in the past. Finally, I could establish a blog that I can use to keep donors updated with your fund-raising progress. 2.
Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. An example would be the successful gene therapy of Corey Haas in this book. Although gene therapy is a promising treatment option for a number of diseases , the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently only being tested for the treatment of diseases that have no other cures. 3.
All viruses attack their hosts and introduce their genetic material into the host cell as part of their replication cycle. Therefore, viruses like this could be used as vehicles to carry good genes into a human cell. First, a scientist would remove the genes in the virus that cause disease. Then they would replace those genes with genes encoding the desired effect. This procedure must be done in such a way that the genes which allow the virus to insert its genome into its host’s genome are left intact. Many gene therapy clinical trials rely on retroviruses or adenoviruses to deliver the desired gene.
Other viruses used as vectors include adeno-associated viruses, lentiviruses, pox viruses, alphaviruses, and herpes viruses. These viruses differ in how well they transfer genes to the cells they recognize and are able to infect, and whether they alter the cell’s DNA permanently or temporarily. 4. Gene therapy poses one of the greatest technical challenges in modern medicine. It is very hard to introduce new genes into cells of the body. Gene therapy will work only if we can deliver a normal gene to a large number of cells – say, several million – in a tissue.
And they have to be the correct cells, in the correct tissue. Once the gene reaches its destination, it must be activated, or turned on to produce the protein encoded by the gene. Gene delivery and activation are the biggest obstacles facing gene therapy researchers. Consequently, targeting a gene to the correct cells is crucial to the success of any gene therapy treatment. Delivering a gene to the wrong tissue would be inefficient and could cause health problems for the patient. Furthermore, Our immune systems are very good at fighting off intruders such as bacteria, viruses and other biological substances.
Gene delivery vectors must be able to escape the body’s natural surveillance systems. Failure to do so can cause serious illness or even death. All these obstacles hamper the success of gene therapy that could save many lives. 5. There were several diseases mention in this book and many of them underwent animal experiments before the gene therapy could be applied to humans. To begin with, Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies.
Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. There are strategies are currently under investigation. Moving on the second disease in this book was giant axonal neuropathy.
Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses. In order to counter this disease, research is being tested on animals, specifically mice.
Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as this. 6. Informed consent is significant in the medical treatment. Honestly, I don’t believe that there is a certain age that allows a child to be competent enough to make his own decision. I think that parents have the ability to make the best decision for the child. In rare cases, if the decision is injurious to a child’s health then the state could step in and make the right decision. In the case of Corey Haas, it was a scientific breakthrough which was made because of a right decision made.
In this particular case, it was necessary to take some risk because if we continued to doubt the possible benefits of gene therapy, more lives will be lost than the risk of the lost lives. Corey Haas miraculous recovery will allow the scientific community to be more confident and civilians to make the right decisions for their children. 7. Hemophilia is a potentially dangerous genetic disorder that can be cured through proper gene therapy. Patients born with Hemophilia are not able to induce blood clots and suffer from external and internal bleeding that can be life threatening.
It is important to consider variables before the process is conducted. Since it is known that our body does not recognize foreign material and deems it dangerous, it is important to engender a gene that is identical. Then, the therapeutic gene would be carried by a virus and would be introduced into the liver of patients, who then will acquire the ability to have normal blood clotting time. Moreover, after the experiment is conducted, the patients should be observed carefully before the process could apply to other people. 8. Gene therapy has some potential risks. A gene can’t easily be inserted directly into your cells.
Rather, it usually has to be delivered using a carrier, called a vector. The most common gene therapy vectors are viruses because they can recognize certain cells and carry genetic material into the cells’ genes. The risks are higher for a trial. First, the body’s immune system may see the newly introduced viruses as intruders and attack them. This may cause inflammation and, in severe cases, organ failure. Second, because viruses can affect more than one type of cells, it’s possible that the altered viruses may infect additional cells, not just the targeted cells containing mutated genes.
If this happens, healthy cells may be damaged, causing other illness or diseases, including cancer. Additionally, it’s possible that once introduced into the body, the viruses may recover their original ability to cause disease. Lastly, If the new genes get inserted in the wrong spot in your DNA, there is a chance that the insertion might lead to tumor formation. This has occurred occasionally in some clinical trials. Therefore, gene therapy clinical trials under way in the U. S. are closely monitored by the Food and Drug Administration and the National Institutes of Health to ensure the safety of those who participate in the studies.
9. One of the most common acquired diseases that can be cured through gene therapy is cancer. Multiple gene therapy strategies have been developed to treat a wide variety of cancers, including suicide gene therapy, oncolytic virotherapy, anti-angiogenesis and therapeutic gene vaccines. Two-thirds of all gene therapy trials are for cancer and many of these are entering the advanced stage. Getting genes into cancer cells is one of the most difficult aspects of gene therapy. The gene is taken into the cancer cell by a carrier called a vector.
The most common types of carrier used in gene therapy are viruses because they can enter cells and deliver genetic material. The viruses have been changed so that they cannot cause serious disease but they may still cause mild, flu like symptoms. 10. One of the physicians on this book was Dr. Fulton who diagnosed Corey Haas rare disease and offered his insight on it. Dr. Fulton told Nancy and Ethan ( Corey’s parents) that Corey had inherited a different mutation, but in the same gene, from each of them. This meant they weren’t distant cousins, which is always a possibility with an extremely rare genetic disease.
Relatives can inherit the same mutation from a shared ancestor, such as a common great-grandparent. This indicates that he considered the possibility of relation to the disease. . Dr. Fulton wrote in the record, ” a new experimental treatment of gene replacement is planned. We are told that the youngest patients will be considered for this treatment is 8 years, an age that Corey is approaching. ” Although Dr. Fulton was no researcher, his expertise on the field was conspicuous which eventually led to the gene therapy of the young Corey Haas.