Stephanie Davis, M.D.

Curnen Professor and Chair

Department of Pediatrics

The University of North Carolina at Chapel Hill

Primary ciliary dyskinesia, cystic fibrosis and primary immunodeficiences are rare diseases with overlapping phenotypic features.  Over the past two decades, there have been significant advances in understanding the underlying pathophysiology, genotype-phenotype relationships and diagnostic approaches for these disorders. This grand rounds presentation will highlight these advances and the importance of team science for rare disease.