• 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.

  • Clinical Services

    The Division of Human Genetics at Cincinnati Children’s provides comprehensive clinical management and diagnostic services for patients and families affected with a variety of genetic conditions. 

    Learn more about our clinical services.
  • Research and Training Details

    Joint Appointment Faculty5
    Research Fellows4
    Research Students3
    Support Personnel135
    Direct Annual Grant Support$2,976,611
    Direct Annual Industry Support$544,845
    Peer Reviewed Publications72

    Clinical Activities and Training

    Clinical Staff29
    Clinical Fellows4
    Clinical Students24
    Other Students4
    Inpatient Encounters563
    Outpatient Encounters6,165