Center for Genomic Medicine

Advancing Human Genome Discovery Through Integrated Genomic and Health Data

Genetic factors play a role in nearly every childhood disease. Yet, despite decades of advances in medical and human genetics, thousands of rare and complex pediatric conditions remain undiagnosed or not fully understood, leaving many families without clear answers or effective treatment options.

Today, new technologies are transforming our ability to understand disease. Researchers are moving beyond the study of individual genes to examine the entire human genome and the complex biological systems that influence how genes function, interact and are regulated. By integrating genomic information with clinical and health data, scientists can uncover previously hidden causes of disease, improve diagnostic prevision and identify new opportunities for targeted therapies. 

At the Center for Genomic Medicine at the Children's Mercy Research Institute, we are leading this next generation of discovery. Our multidisciplinary approach combines cutting-edge genomic technologies, advanced data science and clinical expertise to better understand the biological foundations of rare and difficult-to-diagnose pediatric diseases. Through this work we aim to accelerate diagnoses, enable more personalized treatments and improve outcomes for children and families facing some of medicine's greatest challenges.

Interpreting Disease Through Integrated Genomics

The Center for Genomic Medicine serves as the hub for integrated genomics research at the Children's Mercy Research Institute, advancing comprehensive molecular approaches across pediatric medicine. By combining genomic sequencing with functional genomics and advanced computational analysis, our researchers investigate how genetic variation influences cellular function, disease development and treatment response.

A cornerstone of the Center's work is the Genomic Answers for Kids (GA4K) program, a first-of-its-kind pediatric genomic data resource designed to accelerate discoveries for children with rare genetic conditions. With nearly 20,000 participants enrolled and more than 2,500 diagnoses achieved, the program is helping families find answers while creating new opportunities for research and therapeutic development. 

Our multidisciplinary team brings together expertise in genomics, immunology, computational biology, gene engineering, epigenomics, molecular biology and genetics. Supported by state-of-the-art technologies and innovative research platforms, these scientists collaborate closely with physicians to translate genomic discoveries into meaningful clinical advances. 

The Center's research spans a wide range of pediatric diseases and technologies, including single-cell genomics of childhood cancers, immunogenomics for vaccine development, patient-derived organoid models for drug screening and repurposing and advanced computational approaches to improve rare disease diagnosis. Through these efforts, we are expanding our understanding of disease biology and accelerating the development of more precise, personalized treatments for children.