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◆ American journal of medical genetics. Part C, Seminars in medical genetics2026-08-28

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships.

Bonita J Sawatzky, Megan K MacGillivray, Tracey Schalk, William Bennett Mortenson

原始摘要(英文原文)· Original abstract
This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the resulting registry becomes far richer, more representative, and more meaningful. Including people with AMC as co-investigators not only strengthens the quality and relevance of the data collected but also offers participants a sense of agency, ownership, and empowerment within the research journey. This essay highlights a growing shift in rare-disease research toward approaches that prioritize patient-centered knowledge and long-term data collection. As registries become essential tools for understanding rare conditions, the inclusion of lived experience is increasingly recognized as a critical component in shaping their design, development, and ongoing evolution. However, building and sustaining a registry that may span an entire lifetime is not without its challenges. Issues such as maintaining engagement, ensuring accessibility, and navigating the emotional and logistical complexities of long-term participation all require thoughtful consideration. This paper reflects on these complexities while emphasizing the value of collaborative, experience-driven research in advancing understanding of AMC.
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Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships. — 科研速览 Science Skim