Gene Therapy Case Study

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 [4]. 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 [1]. The exact number of babies born each year with SCID is not well known, as different countries have different inclusion practices

Hemophilia A is a known X-linked recessive disorder. This condition or bleeding disorder is characterized by a deficiency in the activity of a coagulation factor, which in this case is F8 or coagulation factor VIII. This condition is clinically known to be heterogeneous and its severity depends on the plasma level of the coagulation factor VIII. Varying levels of hemophilia exist which are categorized based on percentage of coagulation factor within blood plasma compared to normal levels.

Demolishing genetic diseases from the human race has been and always will be a key role in science. However, there comes a point in time when moral standards have interjected the betterment of cleansing genetic diseases. One of the many branches of science that has the complete capability to exterminate our destiny of any genetic diseases, gene therapy, is being silenced due to the curse of society’s moral standards. There is a very narrow line in what is not morally correct and ethical to standards of people; causing the advancement of procedures like gene therapy to be narrow. The only explanation to gene therapy awaits on what we, as a community, can bring about for the future generations, but this is

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.

I agree with you that there was a conflict of interest which caused Dr. Wilson to continue with the testing even though a participant died from complications. Based on your explanations, I agree that sanctity of human life should outweigh the other principles. Plus, ethics demands that we never allow scientific examination to undermine the interests and inherent value of the distinctive human being who unselfishly enroll in such research.

Gene therapy is a technique that allows for the modification of genes to treat or prevent disease and may become a viable way for doctors to treat a disorder without the need of drugs or surgery. This technology is still experimental, being only about three decades old with the first successful human trial occurring in 1990 when Dr. William French Anderson treated Ashi DeSilva for Adenosine deaminase deficiency (ADA deficiency), which is a genetic, metabolic disorder which causes immunodeficiency. Researchers are testing several approaches to gene therapy, which include replacing mutated, disease-causing genes with a healthy copy of the gene, inactivation a malfunctioning gene, and introducing new genes into the body that will help fight diseases. Over the last two decades, about 2,000 trials have been conducted or approved and future prospects for this technique are encouraging, include the engineering of human genetics in ways that may prove controversial and difficult to predict. This paper will explain how gene therapy works, what it has accomplished so far, its future and current hurdles, and what this all means for our species.

The first X-SCID gene therapy trial used a moloney murine viral vector with the c transgene in two patients with X-SCID. One patient had a missense mutation in IL2RG which resulted in a receptor in the cellular membrane but without a cytoplasmic tail and therefore not functional. The other patient had a frameshift IL2RG mutation which deleted exon 6 and resulted in a truncated receptor that was not expressed on the membrane. Their CD34+ T cells were removed and transfected for three days, at which point they were infused back in to the patient. Around 40% of the infused cells contained the transgene. 15 days after transfusion, circulating T cells containing the transgene were able to be detected circulating in both patients by PCR. The

Corrective gene therapy may offer help with specific and corrective therapy for genodermatoses. These clinical applications have been most successful in genetic modification. Recently large amounts of therapeutic approaches have proven clinical benefits for genodermatoses. Theses studies must surpass HLA limits, then maybe one day gene-correcting cell therapy may be further researched.

The fallbacks and progress of gene therapy are the inherent products of research that have affected its ethical aspects. Initially, when gene therapy was a novice, it gained popularity when scientific research grew toward recognizing genes that caused certain diseases (Hunt 2006). The concept of using gene therapy to cure patients diagnosed with these types of diseases became popular in the 1980’s (Hunt 2006). Starting at this period of time, gene therapy has had its ups and downs that either led the public into outrage or hope (Hunt 2006). The growing interest of gene therapy was accompanied with the controversial success of a child’s, Ashanthi’s, health who suffered from (SCID) severe combined

The process for curing hemophilia post-birth would be to use “stem cells taken from people with hemophilia . . . [that] could be edited outside of the body to correct the genetic flaw that causes the disease, and then the normal cells [that] could be inserted to repopulate a patient 's bloodstream” (Specter 6). One example of genetic engineering being successful was when “In 1990, four-year old Ashanthi DeSilva, a child with SCIDS (Severe Combined Immune Deficiency Syndrome), became the first patient to be successfully treated using gene therapy as part of a clinical trial at the National Institutes of Health” (Specter 2).

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).

“Although we are all members of a single species, we differ from one another in such visible traits as the color of our skin and the shape of our noses, and in biochemical factors such as our blood types and our susceptibility to certain diseases” (Sheridan College Institute of Technology and Advanced Learning, 2013, p. 34). To understand human physical development and evolution one has to understand biological anthropology as the focus on humans as biological organisms. Biological anthropologist conduct research, and form techniques of modern molecular biology to learn about human variation and how it relates to different environment humans lived in as well as their conditions.

The word science comes from the Latin word "to know" (Science Made Simple, 2014). In

Morgan’s studies of sex-linked traits in fruit flies led him to suggest that the genes