Epidermolysis bullosa Essays

1. Describe risk assessment in genetic counseling Genetic risk should be estimated as precisely as possible as it is an important component of genetic testing and counseling, and for family decision making. It is always good to take out extra information from pedigree charts and genetic testing as it can improve the accuracy of risk assessment drastically. The risk can be calculated using Bayesian analyses. Among populations, families or individuals within the same family have significantly different

On September 17th, 1999, eighteen year old Jesse Gelsinger died as the result of his voluntary participation in a gene therapy experiment, becoming the first known human victim of this biotechnology [1]. Jesse suffered from ornithine transcarbamylase (OTC) deficiency, a rare metabolic disorder that prevents the correct metabolism of ammonia. This metabolic disorder affects 1 in 40,000 newborns [3]. Half of children with OTC die in their first month of life, and half of the survivors die before their

Stem cells are the key to the body and its research should be promoted. Research may find out more about human body and may help cure diseases such as epidermolysis bullosa (EB) and diabetes. Some people might disagree because the most effective stem cell treatment involves embryonic stem cells which come from abortions or unused embryos. I support stem cell research because there are many pros for supporting it. Stem cell research offers hope for those suffering from diseases whose treatment options

“identify and attack cancer stem cells” (“The Stem”). Stem cell research can help doctors and scientists to further their understanding of cancer cells. Stem cells have already been used to heal patients with diseases. Charlie Knuth was born with epidermolysis bullosa, a rare skin disease causing skin to be fragile (“Medically”). He was unable to walk, but 2 stem cell transplants later, he is able to run and jump just like any other kid. The stem cell transplants have allowed him to feel like a normal person

Not all diseases carry traits fulfilling requirements for a cure in the status quo; however, Gene Therapy provides hope for treatments with the possibility to evolve into cures for chronic diseases. With all issues there is a solution; it may not stay easily recognizable, but it exists. The specific issue of glioblastoma, an tumor found within the brain to aggressively attack cells, is a focus of researchers at the University of Pennsylvania. Of the first ten patients treated within their study,

Fibroblast The fibroblast is the large cell type of the dermis. These cells are responcible for the formation of procollagen and elastic fibers. Procollagen is terminally cleaved by proteolytic enzymes into collagen which aggregates and turned into cross-linked. These tightly cross-linked collagen fibers allow tensile strength and resistance to shear and other mechanical forces.(9,10) Collagen makes up 70% of the weight of the dermis, primarily Type I (85% of the total collagen) and Type III (15%