YPIE Scientist: Giannie

Research: The Effect Osteogenesis Imperfecta has on Muscles

Mentor: Dr. Thomas Nittoli

Research Location: Regeneron


Osteogenesis Imperfecta, OI, is a genetic disorder that weakens your bones. Approximately 1 in 10,000 to 20,000 people are affected by OI. Most children with OI aren't physically active because they have to focus on their health, limiting them from enjoying many aspects of life. The bones weaken because of a mutation in the genes. Children lack collagen (protein needed for the tissue) and that's what makes their bone weaker. The missing gene is COL1A1 and COL1A2. With OI, you can't produce the needed proteins for your body because the body doesn't have enough collagen (Veilleux, 2017). There are four different types of OI; OI I is the mildest form, OI type II can cause death in a short period of time, OI type III is the most severe, and lastly OI type IV is the moderate type. Most surgeries cost a lot of money and are time-consuming, leading me to my research question: what is the best surgical procedure for osteogenesis imperfecta in children? After reading many research articles, I have found that the surgeries that consist of nails always work better. The nail is inserted between bones to keep the bone stable or repair a broken bone from a fracture. Some patients have uneven bones making surgeries much harder, but before inserting the nail, an osteotomy (removal of a piece of bone) is required. Rodding surgery is performed with a nail positioned to help long bones decrease in size and give support . Surgeons have also used the titanium elastic stable intramedullary nail to hold long bones, prevent fractures, and provide bones with more strength to do things (Jeleč, 2019). This surgery is much safer and less painful than the others, and any child's life can get better after this surgical procedure. Surgeries like rodding surgery can save families lots of money and prevent children from a painful future experience.

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