Epidermolysis bullosa

with Van der Waal forces keep them together via disulfide bonds, which makes it a strong structure. However, mutations/ manipulations introduced to the protein can contribute to disorders within the human body. Hereditary skin blistering epidermolysis bullosa simplex (EBS) is an interesting problem for the purpose of this end of semester presentation because it is an inherited skin blistering disease caused by the fragility of a compartment within the basal cell. This disease is caused by a dominant

participating in an experiment must understand exactly what they are doing." Iris nodded, watching her baby, comatose in his safe-haven.  "In this machine, his DNA will be meticulously altered so that he no longer possesses the symptoms of Epidermolysis Bullosa." Iris smiled.  "But you do understand, he will be five years old by the time the cocooning process is over." "Yes, I would rather give him the life he deserves no matter the time it takes. ' "Okay, Ms. Macadamia. Today is the last day

Epidermolysis Bullosa the most rarest and painful skin condition ever known to modern medicine, this condition is an inherited gene that is Autosomal, meaning Y and X chromosomes. EB can either be Autosomal Dominant or Receive depending on the type of EB a person has, also this Condition affects a protein that holds skin together with out this protein working or functioning the skin can have a faulty structure resulting to the skin not being as strong as it needs to be. With the skin being very sensitive

What impact does Epidermolysis Bullosa have on the lives of the people it affects? It impacts on their lives because of the effect it has on the body’s ability to function properly, mainly because of blisters forming everywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve disfiguring of body parts such as fingers and toes. Many individuals are judged based on their appearance and are severely criticized by use of name calling and such name is referred

“I promise to devote myself to a lifetime of service to others through the profession of pharmacy” was an oath I took two years ago when I graduated as a pharmacist from Jordan University of Science and Technology, but the preparation to fulfill it started since my first day in undergrad school, as my ultimate goal in life is to provide people with best health within my possibilities. In order to be able to stand still behind my promise, I have been working hardly since then on my education, personal

Junctional epidermolysis bullosa (ep-i-der-mo-lie-sis bu-low-suh), also known as JEB, affects about 25,000 people in the US and roughly 500,000 people around the world. Most of these people are young children because JEB is often lethal and 40% of those with the disease do not survive until adolescence. JEB is a recessive genetic connective tissue disorder, but there are currently no genetic tests that can be done to see if parents may be carriers of the disease. Parents usually find out that they

Epidermolysis Bullosa Simplex Dowling-Meara (EBS-DM) falls under the category of a genetic disorder, but it directly affects the epithelium system. The disorder allows the skin to blister very easily. Epidermolysis Bullosa Simplex also makes the skin very fragile and susceptible to open lesions that could then lead to infection. There are two different genes that could cause the disorder, cytokeratin 5 (K5) and cytokeratin 14 (K14). This particular study addresses the increased level of Jun

Have you ever watched a video from the kid president? Do you know the character named Brick in the show “The Middle”? The boys who star in these shows both have something in common. They have osteogenesis imperfecta (OI). It is also known as brittle bone disease or Lobstein syndrome. OI causes the bones to be so brittle that even small movements or impacts can cause a break. These breaks are what often causes the diagnosis to come about. It can also cause the whites of a person’s eyes to turn blue

Epidermolysis Bullosa is a group of inherited connective tissue disease that cause blisters that affects layers of the epidermis (outer layer) and the dermis (inner layer) of the skin. Because the skin of the infected person is so thin and fragile they tend to suffer from skin tears exposing areas that can easily become infected. Epidermolysis Bullosa not only affects the skin but has adverse effect to the inner lining of the mouth, throat and gastrointestinal. Also, in severe cases EB affects the

In recent news, a 7-year-old boy from Bochum, Germany was diagnosed with a severe form of Junctional Epidermolysis Bullosa (JEB), underwent experimental gene therapy in order to restore fully functional epidermis. JEB is a disorder in which three specific genes – LAMA3, LAMB3 or LAMC2 –encoding laminin-332 in the basement membrane are missing or defective. Specifically, this patient had a homozygous acceptor splice site mutation within intron 14 of LAMB3. JEB inhibits epidermal strength and toughness