معرفی
Emily Kathryn Mis is an Associate Research Scientist in the Department of Pediatric Critical Care Medicine at Yale School of Medicine. Her work focuses on genetic and molecular mechanisms underlying pediatric neurodevelopmental disorders, congenital anomalies, and rare diseases. She holds a PhD in Genetics from Yale University (2014), an MS from New York University (2007), and a BS from Fairfield University (2005).
Her research includes identifying genetic variants in families with epilepsy, developmental disorders, and congenital malformations. Collaborations with clinicians and researchers like Mustafa Khokha and Saquib Lakhani have led to advancements in understanding conditions such as Bardet-Biedl syndrome, CRELD1-associated syndromes, and hereditary spastic paraplegia. Mis has contributed to translational studies using Xenopus tropicalis models to explore developmental processes. Her lab is part of the Yale Pediatric Genomics Discovery Program, emphasizing genomic analysis for rare disease diagnostics.
Publications highlight her expertise in genetic profiling, functional analyses of mutations, and clinical-genomic correlations. Her work bridges basic science and clinical practice, aiming to improve diagnostics and treatment strategies for pediatric genetic disorders.
