Institutes, Divisions & Centers
Human Genetics

Human Genetics Research

Research activities are directed to investigate the basic genomic mechanisms of heritable disorders and their translation into viable treatments for rare and common diseases. Basic and translational research efforts focus to:

  1. Define the genomic and gene-environment impacts on human diseases
  2. Develop and apply state-of-the-art technologies (e.g., NextGen sequencing, creation of mouse models), and quantitative genomics / bioinformatics discovery systems to elucidate causality, enhance diagnostic tests / biomarkers and create new treatments for such diseases
  3. Elucidate the cellular, biochemical and genomic pathogenesis of single gene and complex inherited diseases
  4. Create effective gene-based therapeutic strategies for affected families with preclinical emphasis on prototypical lysosomal storage diseases, mitochondrial diseases, selected neoplastic diseases and connective tissue / skeletal disorders

Clinical research and trial efforts seek to: 

  1. Establish the natural history and define the complex phenotypes of syndromic and single gene diseases as preludes to therapeutic interventions
  2. Translate basic and preclinical results into effective therapies for prototypical rare and common diseases
  3. Initiate and conduct single- and multisite Phase 1, 2, 3 and 4 clinical trials for selected diseases using new therapeutic agents for specific and / or adjunctive treatments, initiated by investigators or in partnership with industry.

The overall research goals focus on the creation of unified platforms for complex phenotyping, genomic dissection and translation of personalized approaches to medical care and enhanced outcomes for individuals afflicted with gene-influenced disease.

Landmark Study

Discovery of genes linked to preterm birth: Study based on data from more than 50,000 women, published in the New England Journal of Medicine, could lead to new ways to prevent a leading cause of infant mortality.
> Read the full published paper: Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
> Our press release and Q&A.

Clinical Services

Who treats this?
Genetics specialists at Cincinnati Children’s provide diagnostic services and comprehensive clinical care for patients with genetic conditions. Learn more.

Research Achievements

2022 Research Annual Report.

Learn more about our most significant findings and view grant funding and division statistics in this year's Research Annual Report.

Learn More