The Center for Digital Genomic Medicine (DGM) hosted "Advances in Research and Care for Patients with Rare Diseases: Resources, Knowledge and Implementation" on October 7th, 2025, drawing clinicians and researchers to Vanderbilt University Medical Center.
Speakers organized the program around three themes: resources, knowledge, and implementation.
- Resources featured an overview of the Clinical Genetic Database, including access, use cases, and key caveats.
- Knowledge covered extending growth curves to rare disease populations and early clinical identifiers of patients with pathogenic variants.
- Implementation focused on predicting outcomes for patients with pathogenic variants and approaches to identify pediatric candidates for genetic testing.
Pictured in the photo, left to right, are presenters Douglas Ruderfer, Director of DGM, Lisa Bastarache, research professor, Brett Kroncke, assistant professor, Cathy Shyr, assistant professor, Cecile Avery, postdoctoral research fellow, Lucas Richter, genetic counselor.