Skeletal dysplasia: Achondroplasia

Summary

This project explores achondroplasia, a form of skeletal dysplasia or dwarfism caused by genetic mutations. Affecting approximately 1 in 15,000 individuals, achondroplasia is characterized by disproportionate dwarfism, where individuals have an average-sized torso and short limbs. The condition is primarily caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, leading to abnormal bone growth due to impaired chondrocyte proliferation. Most cases arise from a spontaneous germline mutation, although achondroplasia can be inherited as an autosomal dominant trait. Diagnosis typically occurs at birth or in late pregnancy through genetic testing and radiographs. The condition presents several health challenges, including potential neurological impairments caused by bone growth issues compressing key nervous system structures. Complications such as spinal stenosis, foramen magnum stenosis, and hydrocephalus can arise, requiring medical intervention. Treatment advancements include the use of Voxzogo (vosoritide), a therapeutic drug that targets FGFR3 signaling to promote bone growth. While effective, Voxzogo presents challenges like high cost and side effects. Surgical interventions may also be necessary for managing symptoms and complications. Ongoing research aims to enhance treatment options, focusing on prenatal therapies and exploring alternative approaches to inhibit FGFR3 signaling.

Structure of the FGFR3 protein and location of mutations (Figure representation created by the author: Amy Miao)

Video Presentation

Impact Statement

My name is Amy Miao, and I’m currently a junior at Saratoga High School. My research project comprehensively explores achondroplasia, a type of skeletal dysplasia or dwarfism, which is characterized by impaired growth in the long bones. Through the research process, I became proficient with various databases like NCBI, STRING, Pubmed, and UniProt. I also developed skills in gene analysis—all of which will be highly beneficial for me in my future biomedical studies and research. The daily lectures expanded my view of the biomedical field, covering not only genes, cells, and diseases, but also recent biomedical advances and the processes involved in developing them. My mentor was incredibly supportive throughout the entire program, offering detailed explanations and suggestions for my research.

Report White Paper

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_By: Amy Miao_

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.

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