Epidermolysis Bullosa (EB) is a group of inherited blistering disorders. Dystrophic Epidermolysis Bullosa (DEB) is the most severe of EB disorders. DEB causes the skin to become very fragile and blister easily. This potentially life-threatening disease is found in infants and newborns post-child birth. DEB is frequent in an estimated 6.5 million live births in the United States. Sadly, this disease is incurable and prone to cause those infected to live short-lived lives. In this research paper I intend to provide background history on DEB, including: results of the absence of the C7 collagen gene, the most severe of the DEB classifications, Recessive Dystrophic Epidermolysis Bullosa of Hallopeau-Siemens subtype (RDEB-HS), the symptoms and the
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The cause of death for the untreated Col7a1−/− mice was hypothesized to be mucosal disruption with consequent weight loss and malnutrition. Surprisingly, 3 (15%) of 20 of the mice were able to survive long term. It was proven that a quotient of mice had enough repair of RDEB to prevent death as a result of the scattered epithelial cell injury, which is a major characteristic of the disease. At 7 weeks of age, the surviving mice (1 male and 2 females) weighed less than their normal heterozygous and wild-type littermates. At week 10, all remaining mice where now dead and used for tissue …show more content…
It was observed, in a newer study, Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa, that within the portion of mice, portion of bone marrow from improved stem cells prevented postnatal death with RDEB. The 15% of mice with the expression of wild-type C7, that formed new anchoring fibrils and resistance to blisters, had survived longer than 80 days after transplantation. After reviewing and analyzing these results it was then decided to conduct a phase 1-2 clinical trial of bone marrow transplantation, but instead on humans with severe
The cause of death for the untreated Col7a1−/− mice was hypothesized to be mucosal disruption with consequent weight loss and malnutrition. Surprisingly, 3 (15%) of 20 of the mice were able to survive long term. It was proven that a quotient of mice had enough repair of RDEB to prevent death as a result of the scattered epithelial cell injury, which is a major characteristic of the disease. At 7 weeks of age, the surviving mice (1 male and 2 females) weighed less than their normal heterozygous and wild-type littermates. At week 10, all remaining mice where now dead and used for tissue …show more content…
It was observed, in a newer study, Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa, that within the portion of mice, portion of bone marrow from improved stem cells prevented postnatal death with RDEB. The 15% of mice with the expression of wild-type C7, that formed new anchoring fibrils and resistance to blisters, had survived longer than 80 days after transplantation. After reviewing and analyzing these results it was then decided to conduct a phase 1-2 clinical trial of bone marrow transplantation, but instead on humans with severe