Leveraging Large-Scale Electronic Health Records and Patient Surveys to Identify Comorbidities in Ichthyosis to Facilitate Transition from Pediatric to Adult Care
Yale University School of Medicine
Yale University
Overview:
The ichthyoses are a group of rare genetic skin conditions that cause scaling and redness of the skin. In addition to skin manifestations, ichthyosis can lead to other health issues, such as asthma, failure to thrive, and mental health conditions. However, the full extent of these other health diseases associated with ichthyosis remains unclear. This study will use Epic Cosmos, a nationwide medical database with over 200 million patient records, to identify health issues associated with ichthyosis and track how these conditions develop from childhood to adulthood. Additionally, we will combine this data with information gathered from the National Ichthyosis Registry, which contains detailed genetic and clinical data. We will administer surveys to the registrants and obtain registrants’ health records to better identify high-risk individuals. This study will improve medical care for pediatric individuals with ichthyosis, guide transitioning from pediatric to adult care, and help develop more personalized ichthyosis care.
Status:
This project was funded by a 2025 PeDRA Research Fellowship Grant. Angela Luo was selected as the 2025 Founders’ Fellow, funded by individual donors and the PeDRA Board of Directors, who also supported an additional 2025 Research Fellowship through the 2024 end-of-year fundraising campaign.