Smail Lab @ Children's Mercy

We are a research group focused on computational genomics and pediatric rare diseases. Our lab is located within the Genomic Medicine Center at Children's Mercy Hospital.  


Mapping rare variants to function using clinical and population-scale multi-omics

We develop computational and statistical tools to uncover pathogenic coding and non-coding variants across 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 integrates genomic, functional and phenotypic resources from across the spectrum of human diseases in both differentiated and pluripotent cellular contexts. These insights - from patient to population-scale - allow us to develop generalizable methods to pinpoint causal disease genes, pathways, and regulatory mechanisms underlying rare disease phenotypes, enabling expanded patient genome assessment and the potential for gene-based therapeutic targeting. 

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We gratefully acknowledge external funding provided by: