Research Priority Area
Genetic Contributions to Health and Disease

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Transforming Health Through Genetic and Genomic Research

Cincinnati Children’s is advancing the understanding of how genetic variation influences health, development, and disease. Our researchers study both rare and common conditions, using cutting-edge tools in genomics, gene therapy, and disease modeling to improve diagnosis, treatment, and long-term outcomes.

Across our many labs and centers, teams investigate the genetic mechanisms that drive disease and explore new therapeutic strategies, from single-gene disorders to complex, multifactorial conditions. As a nationally recognized leader in rare disease research, we combine scientific discovery with clinical expertise to accelerate progress for patients and families.

Our work includes efforts to improve the use of whole genome sequencing, map gene regulation in immune and developmental disorders, and translate discoveries into targeted therapies. Investments in infrastructure support our growing capacity for clinical trials and therapeutic development.

Together, these efforts reflect our commitment to shaping the future of genomic medicine through innovation, collaboration, and a deep focus on the genetic foundations of health and disease.

Researcher outside of an MRI looking at a computer.
Research Spotlight

Breakthrough Study Finds Whole Genome Sequencing Doubles Diagnostic Success in Newborns

In a multi-hospital study of 400 infants, whole genome sequencing identified nearly twice as many genetic conditions as standard tests. Cincinnati Children’s played a leading role in this groundbreaking research that’s shaping the future of pediatric diagnostics.

Divisions and Centers Advancing Genetic Research in Health and Disease

Explore the divisions and centers leading groundbreaking genetics research at Cincinnati Children’s.