Interpreting disease through integrated genomics
The AOE is the epicenter for integrated genomics research at Children’s Mercy, conducting comprehensive, whole-genome sequencing for all applications in pediatric medicine. This integrated approach unites sequencing data about DNA structural changes with functional genomics to explore cellular alterations and variations that may lead or contribute to diseases.
Directing the AOE’s innovative research is Tomi Pastinen, MD, PhD, who also leads Genomic Answers for Kids, an initiative for future genomic research at Children’s Mercy that aims to learn from 30,000 children with genetic conditions. The Genomics Medicine AOE specialized team also includes clinical experts in molecular pathology and state-of-the-art computational biologists and researchers in the Center for Pediatric Genomic Medicine, which features some of the latest technologies in the field and is among the first of its kind with a pediatric focus.
Through the unique collaboration of these experts, the Genomics Medicine AOE provides more opportunities for physicians to take care of sick children by increasing the rate of assignment of molecular diagnosis in personal genomes.