Summary: The Efficacy Of Gene Therapy

There are two main groups of gene therapy and they are germ line gene therapy and somatic gene therapy (Baksh, 2007). Germ line therapy consists of germ cells being modified by the introduction of functional genes, which are ordinarily integrated into their genomes (Garbutt et al., 2011). DNA encodes the therapeutic gene and replaces the mutated gene so the new gene can treat the disease. Germ line

Wiskott Aldrich Syndrome is a very rare, life threatening disorder which is found mostly in men.

Mucopolysaccharidosis type 2 also known as Hunters Syndrome. This condition affects many different parts of the body and occurs in males. It occurs only in the males because this condition is inherited in an X linked recessive pattern. Males have one X chromosome and females have two. So it affects males. The exception is MPS 2 in which the mother alone passes along the defective gene to a son.

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

Marfans Syndrome is a disease that results from a change of a person's DNA that can be classified as a genetic disorder. The change can be every minute, such as a single mutation in a particular gene or complex also the addition or removal of a complete chromosome. Marfan syndrome is a hereditary disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardiovascular( Mayoclinic.org).

The mutations that cause MAS occur at a site in the protein that normally lead to inactivation by GTPase. The inactivation leads to ongoing stimulation of adenylyl cyclase and high levels of cAMP. High cAMP results in hyper endocrine responses, even in the absence of stimulating hormones, affecting melanin, growth hormone, cortisol and thyroid hormones among others. The disorder shows clinical presentations in the skeletal, integumentary and endocrine

Noonan Syndrome is a genetic disease caused by a genetic mutation and is developed when a child inherits a copy of an affected gene from a parent with dominant inheritance. Noonan syndrome can also happen with spontaneous mutation. The mutated genes related to Noonan syndrome are PTPN11, SOS1, RAF1, KRAS, NRAS, and

There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.

It is a X-linked recessive gene that is pass down from the mother and affects the development growth of males offspring, and also can be passed down to the female offspring but very really.. MD has a high inheritance rate of 50% in males. Males can not pass MD to the offsprings. MD is a really interesting but sad diseases because of the inheritance and

Smith-Magenis Syndrome (SMS) is a chromosomal disorder due to the deletion of genetic material on chromosome 17, more specifically 17p11.2 (PEDNEUR). It is estimated that SMS occurs in about 1 in every 25,000 births, affects boys and girls equally, and is underdiagnosed because there’s not as much awareness about it compared to other disorders and syndromes (PRISMS). Therefore, the prevalence may be 1 in every 15,000 births, and most of the people with SMS have been identified in the last 5 to 10 years due to improved cytogenetic testing (PEDNEUR). SMS was first discovered by Ann C.M. Smith a genetic counselor, and Dr. R. Ellen Magenis a physician and chromosome expert in 1986 (PEDNEUR).

Burney, Davies, Jane C, Tabinda J 2007, NCBI, The application of clinical genetics, Vol.5, pp.29-36

While new innovations and regulatory approvals with regards to gene therapy can lead to positive outcomes, gene therapy comes with its own set of challenges. The advantage of gene therapy included that is can lead to personalized treatments suited for everyone, and because of the heritability of the genome, could potentially be a one-time treatment, as opposed to current treatments like drugs or chemo which need to be undergone multiple times. This is especially true for cancer, which has been the most common condition to which gene therapy treatments have been applied [8]. As Dr. Scott Gottlieb, the commissioner of the Food and Drug Administration, states to Laurie McGinley, a reporter at The Washington Post during

Human Gene Therapy was first written about in 1963 with the first clinical study using gene transfer being conducted in 1990. Human Gene Therapy is characterized by the insertion of a functioning gene into cells to fix a cellular dysfunction or to create new cell function (Culver 1994). There are many diseases that come from dysfunctional or defective genes. These diseases include cystic fibrosis, combined immunodeficiency syndromes, hemophilia, and many types of cancer. (Cotrim & Baum 2008). A gene can be distributed to a cell using a carrier known as a vector. The most common vectors used in gene therapy are viruses. The viruses

Gene therapy is an amazing advance in science and medicine, but it does have its drawbacks. Since a gene cannot be directly inserted into a cell a vector is used as a carrier for this gene. Usually a virus is used as a vector because it can more easily recognize certain cells. The most common issues are unwanted immune system reactions, vectors targeting the wrong cells, infection caused by the virus, and the possibility of creating a tumor if the genes get inserted in the wrong spot in your DNA3.

Gene is a relatively new but rapidly developing way to treat or cure people of certain diseases. Instead of using a drug or surgery to cure or treat someone they are using gene therapy as a way to insert a gene into the patients cells. If this technique works then it can be an amazing option for someone with a disease with otherwise no cure. Along with this new technique come many risks and dangers that question the ethics involved in doing this. Even though it is only still being tested it can be seen as a promising treatment option for many people.