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.
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