name: miguel date: 9/11/25
1. what part of the body is affected by epidermolysis bullosa?
2. how is the disease actually treated?
3. what is a \contracture\?
4. describe the role of type vii collagen in skin.
5. use the next page for a more detailed examination of how the process works. what is the source of the modified fibroblasts?
6. how are the fibroblasts modified?
7. how are the modified cells then used to treat deb?
8. consider the sentence in the second - to - last paragraph. what does this mean?
9. upon reflection on the \butterfly child\ video, what do you think would be the most difficult part of living with deb?
gene therapy for \butterfly children\
videos of the \butterfly children\ are difficult to watch. the name comes from the delicate skin of a butterfly. the fragility of the skin of people with epidermolysis bullosa (eb) is reminiscent of the butterflys wings. the slightest touch causes painful blisters and peeling skin. parents can be carriers of the recessive dystrophic epidermolysis bullosa (rdeb). in the united states, about 1 in every 20,000 births has rdeb. parents of rdeb children provide intensive care for their children, which includes daily bandage changes. these bandages are made of special polymers with low adhesion and the use of antibiotics and antiseptics. if a parent pulls a bandage off too quickly, it can tear the skin. the daily bandage changes and removing blisters and repairing skin arent all the complications. bathing can take hours. patients with eb also have anemia, malnutrition from mouth and esophagus sores that make eating nearly impossible, and skin cancer. skin, \mitten,\ deformities, over time rigid joints and tendons, and contractures. over time fingers and toes may need to be cut off to fuse together, creating \mitten\ deformities. shrinks and tightens muscles and tendons, which further reduces skin mobility.
in healthy skin, anchoring fibrils, mainly of type vii collagen protein, knit the epidermis to the dermis below. in rdeb, any of 200 mutations in the genes that produce this collagen can cause the problem. gene therapy may offer hope for repairing these mutations. gene therapy uses viruses to deliver functional col7a1 genes, which encode the collagen. the viruses take cells from patients and grow and \fix\ (ex vivo) the cells outside the body and then inject the doctored self - selected cells into areas of skin.
rdeb gene therapy is localized and would coincide with patients routine hospitalizations. in younger children with rdeb, wounds start emerging on the skin at a time when they become immobile with contractures. one of the clinical strategies is to treat earlier and prevent these small areas from becoming larger. focusing on certain areas, like the fingers, may better improve the quality of life.
at the 12 - week mark, four of the targeting fibroblasts and described the effect of their product was produced. at the 12 - week mark, five wounds treated in three adults and type vii collagen was greater than or equal to 70% healed. although anchoring fibrils were not yet observed.

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Accepted Answer

1. **What part of the body is affected by epidermolysis bullosa?**
   - # Brief Explanation:
     - The text mentions that epidermolysis bullosa (EB) affects the skin. People with EB have blisters and peeling skin due to the fragility of the skin.
   - # Answer:
     - The skin.
2. **How is the disease currently treated?**
   - # Brief Explanation:
     - The text states that current care for children with RDEB (a type of EB) includes daily bandage changes, use of antibiotics and antiseptics, and intensive care for their skin. There are also special polymers with low adhesion to help with bandaging.
   - # Answer:
     - Daily bandage changes, use of antibiotics and antiseptics, intensive skin - care, and special polymers with low adhesion for bandaging.
3. **What is a “contracture”?**
   - # Brief Explanation:
     - The text describes that over time, fingers and toes can fuse together, and skin shrinks and tightens, which are manifestations of contractures. Contractures reduce mobility.
   - # Answer:
     - A condition where fingers and toes may fuse together, and skin shrinks and tightens, reducing mobility.
4. **Describe the role of Type VII collagen in skin.**
   - # Brief Explanation:
     - Type VII collagen is an anchoring, skin - fibroblast protein. It helps in the formation of the dermal - epidermal junction and is important for the integrity of the skin structure.
   - # Answer:
     - It is an anchoring, skin - fibroblast protein that is crucial for the dermal - epidermal junction and skin integrity.
5. **What is the source of the modified fibroblasts?**
   - # Brief Explanation:
     - The text doesn't explicitly state the source of the modified fibroblasts. However, it mentions that gene therapy uses viruses to deliver functional COL7A1 genes (which encode the collagen) into cells taken from patients, so it can be inferred that the fibroblasts are from the patients themselves.
   - # Answer:
     - Likely from the patients themselves, as gene therapy involves using cells from patients and modifying them with functional genes.
6. **Consider the underlined sentence in the second - to - last paragraph. What does this mean for the success of the treatment?**
   - # Brief Explanation:
     - The underlined sentence likely refers to the idea that if gene therapy is localized and coincides with patients' routine hospitalizations, it may be more effective. It can target areas like where wounds start emerging early, preventing small areas from becoming larger and improving the quality of life.
   - # Answer:
     - Localizing gene therapy and aligning it with hospitalizations can target emerging wound areas early, preventing them from worsening and improving the quality of life, which is beneficial for treatment success.
7. **Upon reflection on the “Butterfly Child” video, what do you think would be the most difficult part of living with EB?**
   - # Brief Explanation:
     - Living with EB involves daily pain from blisters and skin breakdown, frequent bandage changes, limited mobility due to contractures, and potential social and psychological impacts. The most difficult part could be the constant pain and the physical limitations that severely affect daily life.
   - # Answer:
     - The constant pain from blisters and skin breakdown and the resulting physical limitations that severely impact daily life.

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