Smail Lab @ Children's Mercy

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

research areas

Mapping rare variants to function using population-scale multi-omics to solve complex pediatric rare diseases

We develop computational and statistical tools to uncover pathogenic coding and non-coding variants in pediatric rare diseases, working with multi-disciplinary researchers, patients and families to diagnose rare disease cases within the Genomic Answers for Kids program at Children's Mercy Hospital, with a focus on regulatory variation and non-Mendelian/complex rare diseases. 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 population-scale insights allow us to develop generalizable methods to pinpoint causal disease genes, pathways, and cis- and trans-regulatory mechanisms that explain complex rare disease phenotypes, enabling expanded patient genome assessment.

Lab news

  • May 2022: our paper on identifying large-effect rare coding and non-coding variants in complex disease using outlier gene expression is published in AJHG - congrats to all co-authors!

  • Oct 2021: Craig is selected as a 2021 Marion Merrell Dow/Ed Connolly Research Scholar - an endowment funding pediatric genomic research to find answers, better treatments, and cures for childhood illness and disease

  • May 2021: we are delighted to welcome Marissa Keever (current doctoral candidate at University of Illinois at Urbana-Champaign), who will join the lab as a Postdoctoral Research Scholar this summer - welcome Marissa!

  • Mar 2021: Lab news in the press! Nature Reviews Genetics, "Stem cells root out genetic variants"

  • Mar 2021: our i2QTL Consortium iPSC manuscript is now published in Nature Genetics - congrats to all co-authors!

  • Feb. 2021: we are excited to offer two new positions in the lab

  • Oct 2020: the Smail Lab has officially opened within the Genomic Medicine Center at the new Children's Mercy Research Institute, Kansas City, MO