Smail Lab @ Children's Mercy

We are a biomedical research group focused on rare disease genomics.

Our lab is located within the Genomic Medicine Center at Children's Mercy Kansas City, and affiliated with University of Missouri Kansas City and Kansas University Medical Centers.  

research FOCUS

Mapping the functional impacts of rare genetic variants using patient and population-scale multi-omics

Our lab develops and applies computational and statistical tools to uncover pathogenic variants in undiagnosed rare diseases. We work with multi-disciplinary researchers, patients and families to provide diagnostic discoveries within the Genomic Answers for Kids program at Children's Mercy Hospital, with a focus on regulatory variation and rare complex diseases such as congenital heart defects

To enable this, our research program generates and integrates genomic data (short- and long-read), bulk and single-cell functional profiles, and phenotypic resources from across the spectrum of human diseases in both differentiated and pluripotent cellular contexts. These insights - drawn from clinical samples to population-scale biobanks - allow us to pinpoint causal disease genes, pathways, and regulatory mechanisms underlying rare disease phenotypes, enabling expanded patient genome assessment. 

Lab news







We gratefully acknowledge external funding provided by: