Langley Barr
Research Mentor: Tyler James
Mentor Department: Family Medicine, Medicine
Author(s): Not Available
Session: Session 1 (9:00 AM – 9:50 AM)
Presentation Type: Poster 51
Abstract
Despite CHARGE syndrome being widely recognized by clinicians, it is not consistently represented as a unified diagnosis within many medical coding and insurance systems. Instead, healthcare providers are required to document each clinical diagnosis separately. This fragmented documentation creates significant barriers to identifying affected individuals at a population level and limits opportunities for large-scale research. Consequently, there is a lack of comprehensive data regarding disease prevalence, treatment outcomes, long-term prognosis, and the factors contributing to mortality in this population. To address these challenges, our project is focused on developing a robust, centralized database that captures the full spectrum of clinical features associated with CHARGE syndrome. This database will incorporate relevant ICD, CPT, HCPCS, and SNOMED CT codes to systematically represent the condition. By leveraging data management platforms such as REDCap and examining coding systems used globally, we aim to more accurately identify, and study individuals affected by CHARGE syndrome. With this comprehensive infrastructure, we can enable more meaningful research, improve clinical understanding, guide treatment strategies, and ultimately shift the focus from fatality to improved quality of life and long-term outcomes for individuals living with CHARGE syndrome. This approach will also facilitate patient-centered clinical research and support the development of evidence-based care.
