Craig Smail, PhD
Assistant Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Research Assistant Professor of Pediatrics, University of Kansas School of Medicine
Full BiographyCraig Smail, PhD, of the Genomic Medicine Center, was recently awarded a five-year, $1.9 million early-stage investigator award from the National Institute of General Medical Sciences of the National Institutes of Health under award number 1R35GM146966.
Dr. Smail’s “Mapping causal genetic processes in non-Mendelian pediatric rare disease” project will provide computational and statistical methods to determine to what extent pediatric rare diseases are caused by an accumulation of mutations across many genes rather than by just a single mutation.
As part of his research project, Dr. Smail and his team will integrate diverse functional and genomic resources across 1,900 rare disease individuals to accurately identify the complex causes of pediatric rare diseases, increasing the potential for diagnosing unsolved patient cases.
“Genome sequencing has led to rapid advances in the diagnosis of pediatric rare diseases, but current approaches fail to diagnose 60-70% of all cases,” says Dr. Smail. “In this project we will conduct a comprehensive genomic and functional assessment of pediatric patients from across the Midwest enrolled in the Genomic Answers for Kids (GA4K) initiative at Children’s Mercy Kansas City who have a suspected rare disease not explained by current best-practice clinical sequencing workflows. We think our proposed work will provide answers to important unsolved questions in understanding the genetic basis of rare diseases, including variable penetrance of causal genetic variants, phenotypic heterogeneity, and targeting of future gene-based therapeutics.”
The contents are those of the investigator and do not necessarily represent the official views of, nor an endorsement, by NIH, or the U.S. Government.