EP 194: Ontologies, diagnostics, and genomics for all with Melissa Haendel of UNC Chapel Hill

<p><strong>Summary: </strong></p><p>This week on The Genetics Podcast, Patrick is joined by Melissa Haendel, Director of Translational Informatics and Precision Health and Professor at the University of North Carolina at Chapel Hill, and Phenotypic Lead at Alamya Health. They discuss the limitations of electronic health records for rare disease diagnostics, how patient self-reporting can enhance diagnosis, expanding access to genomic testing in underserved settings, and the challenges and promise of national-scale health data infrastructure. </p><p><strong>Show Notes: </strong></p><p><strong>0:00 </strong>Intro to The Genetics Podcast</p><p><strong>00:59</strong> Welcome to Melissa</p><p><strong>02:05</strong> Melissa’s career path, beginning with finding her first professorship on Craigslist</p><p><strong>04:24 </strong>The fundamentals of ontology and how it can help identify common molecular mechanisms across different rare diseases</p><p><strong>06:29 </strong>Why key rare disease ...