In collective view, genes are believed as the primary determinant of human health and they’re not modifiable. Thus, genetic disease are still considered as incurable disease. Until this day treatment and management strategies are mostly designed to improve only the particular signs and symptoms associated with those disorders. Although gene therapy become a promising treatment option for genetic diseases, the technique remains risky. Inserting gene into patients’ cells causes an imbalance in the whole living systems. Unwelcome immune response could cause serious illness or even death. Compared to other diseases, genetic diseases affect smaller population. Therefore, from the point of view of pharmaceutical companies, the high cost of developing a treatment makes it an unappealing prospect. A desire to bring a new hope for genetic diseases cure motivate me to pursue a PhD degree in System Biology, one of the programs in Harvard Integrated Life Sciences. …show more content…
The majority of patients, particularly in low-resource countries are children. In Indonesia, 300,000 children born with thalassemia each year, around 20 percent of them suffered from beta-thalassemia major, relying on blood transfusions all their lives. They spend an eight-hours process of transfusion every other week. Pre-meds those given on transfusion days caused them to become very drowsy and keep them from eating properly or functioning for basically an entire day.
There is imbalance between the number of patients and medical resources. Patients received no or minimal blood transfusions and iron chelator such as desferrioxamine is very expensive. The only cure for thalassaemia is stem cell transplantation. Unfortunately, not every countries have stem cell transplantation available and appropriate donor is hard to
Although the treatment is costly and only available in clinical trials, gene therapy has treated some of the most known diseases, like Parkinson’s disease. People who are for gene therapy believe that it will change our world by getting rid of sickness. They think of a world without cancer and Parkinson’s disease. However, the people against gene therapy see a world with technology overtaking civilization. In their eyes, they think that gene therapy is wrong because of the side effects and the concept behind it. In addition, when thinking about gene therapy, the opposers conjecture that changing the genetic makeup of someone affected with genetic illness is wrong. I, on the other hand, believe that changing the genetic makeup of someone that is ill and suffering is exceptional because it is to their advantage. All in all, gene therapy is a heavily debated topic, but I believe that gene therapy can change our world in a positive
Blood transfusions are another option. This can increase the number of red blood cells that cause anemia and makes the body weak and it can fight off other complications from the disease. Gene therapy is a newer treatment that inserts a normal gene into the bone marrow of a person with sickle cell anemia hoping for a result of normal hemoglobin but this process is still in an experimental stage.
Imagine the possibility of eliminating serious genetic diseases from the world. Imagine the idea of treating, preventing or even curing diseases that are yet to be cured. Imagine the feeling of being given improved health and a prolonged lifespan. This can all be accomplished with the aide of genetic engineering. Human genetic engineering refers to the process of directly manipulating human DNA to produce wanted results. DNA is a simple but very complex chemical that has the power to change the world and has begun to do so already. Many opponents to gene therapy fail to realize that genetic engineering has great potential to become very important in the biomedical industry. Though controversy exists regarding the ethics of human genetic engineering, it can produce numerous benefits, which outweigh its disadvantages and side effects; therefore, scientists should be able to manipulate the human genome for the purpose of helping people with serious medical conditions.
Severe DBA can be treated by blood transfusions from a compatible host. Blood transfusions help by replacing the defective blood with healthy blood. However, a constant supply is needed as the person will still continue to produce the mutated cells. Constant transfusions can lead to organ damage due to an excess of iron. To combat this, one can undergo a bone marrow transfusion. With a bone marrow transfusion from a healthy donor, the affected person will begin to produce healthy blood cells with the new marrow. If successful, the bone marrow transplant will not fix any of the birth defects a person with DBA is likely to have, but it will stop the progression of the disease and allow the person to live out their lives. In spite of positive results however, bone marrow transfusions can be very dangerous. For some, the possible side effects of a bone marrow transplant outweigh the possible positive effects. Another good way to treat DBA non-invasively is by using corticosteroids to treat the anemia in DBA. In a large study conducted, more than 80% showed signs of improvement because of the steroids. However, over time the effectiveness for some decreased while for others remained largely the same. There were also several adverse side effects that were associated with this treatment.
One of the complications of having sickle cell is having to get treatments. For example, blood transfusions they aren´t always used on regular basis. But are treated to individuals with frequend and sever painful events, sever anemia and other emergenices. If blood transfusionare given on a regular the potential to decrease formation of homoqlomins and reduce associated.
The health care provider will carefully review the medical history of the patient and determine if EPO is the best treatment for the patient’s anemia. Experts recommend using the lowest dose of EPO that will reduce the need for red blood cell transfusions. Additionally, health care providers should consider the use of EPO only when a patient’s hemoglobin level is below 10 g/dL. Health care providers should not use EPO to maintain a patient’s hemoglobin level above 11.5 g/dL.Patients who receive EPO should have regular blood tests to monitor their hemoglobin so the health care provider can adjust the EPO dose when the level is too high or too low. Health care providers should discuss the benefits and risks of EPO with their patients.Many people with kidney disease need iron supplements and EPO to raise their red blood cell count to a level that will reduce the need for red blood cell transfusions. In some people, iron supplements and EPO will improve the symptoms of
Fifty years after the idea of gene therapy was first proposed, gene therapy has become a possible treatment for a couple different diseases. Before this treatment was approved, some serious unfavorable effects were found in clinical trials. However, these effects fueled more basic research in order to improve, in efficiency and safety. Gene therapy has been used for patients with blindness, neuromuscular disease, hemophilia, immunodeficiencies, and cancer.
According to AHFS, current findings have shown that the best two forms of treatment for sickle cell anemia are blood transfusions in combination with the drug hydroxyurea. Although both of these forms of treatment are underused, researchers are suggesting that the treatments be added to the patients’ therapy to better manage sickle cell anemia. Hydroxyurea is used in patients with sickle cell anemia to reduce the need of blood transfusions, as well as painful predicaments that the patients usually find themselves in. It is imperative to remind the patient that hydroxyurea does not treat sickle cell anemia, it only controls the symptoms. While treating sickle cell anemia, it is crucial for the patient to attend all doctor’s appointments. Physicians will need to take blood samples to better understand the systemic effects of the drug. Hydroxyurea can cause a significant decline in the number
Sickle Cell Anemia is a hereditary disease that changes the smallest and most important components of the body. A gene causes the bone marrow in the body to make sickled shapes, when this happens; it causes the red blood cell to die faster. This is what causes Hemolytic Anemia. Older children and adults with sickle cell disease may experience a few complications, or have a pattern of ongoing problems that shorten their lives. The most common and serious complications of sickle cell disease are anemia, pain, fatigue, and organ failure. Today there are many alternatives and opportunities that a sickle cell patient may consider. One outlined in this paper is the Hydroxyurea method.
Sickle cell anemia is an autosomal recessive point mutation that is often attributed to populations in Africa and the Middle East. This is due to a the high occurrence of malaria in these regions, however, the rate at which both sickle cell anemia and malaria are occurring in other regions of the globe is becoming increasingly prevalent. Immigration during the past few decades has resulted in what is now being considered an epidemic. The resources available to treat those with these diseases in more developed nations are abundant in comparison to places in Africa and the Middle East, yet regardless of treatment options, those who have sickle cell anemia still suffer greatly. How a society manages this illness is based on resources, treatment options, and funding. In some areas, sickle cell is more widespread than in others and the impact on the society yields a greater threat. In order to better understand the disease, one must start at the foundations and work upwards, following its progression and migration throughout the world.
HbSS) occurs when thymine is substituted for adenine at the sixth amino acid position of the β globin chain of the hemoglobin tetramer (2-α globin and 2-β globin chains) resulting in the production of valine (a hydrophobic amino acid) instead of glutamic acid, which is hydrophilic (12). Although all SCA patients share the same genetic mutation, the clinical course is highly variable between patients (13). The highest sickle cell trait (HbAS) carrier rate is present in families who trace their ancestry to malaria endemic regions (14). In addition to homozygous SCA, other sickle-related hemoglobinopathies occur when HbS is inherited in the heterozygous state with another β globin chain mutation (most commonly HbC, i.e. HbSC) or quantitative defects in β globin production (HbS0thalassaemia and HbS+thalassaemia). Both HbS0thalassaemia and HbSS are clinically severe, while patients with HbSC and HbS+thalassaemia generally have milder phenotypes. Approximately 1 in 500 African American infants born in the United States are affected by SCD (includes SCA and heterozygous sickle hemoglobinopathies), and it is estimated that nearly 100 000 SCD patients live in the United States
There are natural ways to reduces the effect of hemolysis and they are eating black Molasses because it contains a lot of iron, beetroots which are rich in folic acid, spinach and lettuce because they contain both the iron and folic acid, pomegranate or wheat grass juice, jamun fruits because they increases your red blood cell level and it will help with your hemoglobin level, also citrus fruits , milk with mangos because it will also increase your hemoglobin
Gene therapy has the potential to revolutionize modern medicine. The techniques of gene therapy are still in their infancy as medical treatments and there are still many problems which must be solved before gene therapy will live up to its potential. However, it is very likely that gene therapy will become a reality at some point in the future and when that time comes, the ethical questions surrounding gene therapy will be pushed to the forefront of medicine. Science may find a way to reduce the risks associated with gene therapy but science alone cannot eliminate the serious ethical and societal risks which gene therapy brings to bear on the world. We need to put people's
Exploration into the function of each gene discovered will continue well into the 21st century. The knowledge gained from this will lead us to better understand the cause of genetically related diseases. Having the ability to recognize the causation of a disease will shift technology from trial and error treatments to specific drugs designed to treat the gene sequence and protein structure. This is called gene therapy and is the most exciting aspect of the HGP. It gives the
Every living thing is the product of the genes that were passed down from ancestors. Genes make up everything we are. One gets their traits from their parents. Most people live full lives with relatively good health. However, some people inherit mutated genes or faulty genes. This could lead to genetic disorders that could be life threatening. Even today, many genetic disorders still remain incurable, leaving many people without hope. Genetic therapy could be their answer. It is through this research that the cure for genetic disorders can be found. Though some people believe it is unethical or immoral to alter genes, current therapeutics have not been able to save the lives of the patients with these diseases. Genetic therapy