• Research Faculty

  • A photo of Nancy Doan Leslie.

    Nancy Doan Leslie, MD Interim Co-Director, Division of Human Genetics

    is a clinical geneticist working to improve the health of individuals with inborn errors of metabolism (lysosomal disorders, as well as fatty acid and protein metabolic disorders) through development and evaluation of new drugs. As part of the critical infrastructure for clinical research on these rare diseases, she assists in the development and enrollment of patients into disease registries. 

    513-636-2438

    A photo of William Nichols.

    William C. Nichols, PhD Interim Co-Director, Division of Human Genetics

    investigates the genetic susceptibility of pulmonary arterial hypertension. His lab was instrumental in identifying the first gene associated with the disorder. He is director of the NHLBI funded National Biological Sample and Data Repository for PAH, an effort to bank biological samples, clinical and genetic data for 3,000 PAH patients. Genetic analysis of murine pulmonary hypertension and Parkinson disease are also ongoing research interests.

    513-636-4717

    A photo of Min-Xin Guan.

    Min-Xin Guan, PhD

    has identified several mitochondrial variants and is actively characterizing their roles in modifying susceptibility, age-of-onset, penetrance and severity of disease, with particular interest in maternally inherited deafness. 

    513-636-3337

    A photo of Robert J. Hopkin.

    Robert J. Hopkin, MD Co-Director, 22Q-VCFS Center

    is a clinical geneticist interested in the natural history of Fabry disease and its evaluation and treatment; he is currently involved in a clinical trial for pediatric Fabry disease, NF research, several outcomes studies for patients with cleft lip and/or cleft palate and velocardiofacial syndrome (VCFS), and he and is actively enrolling patients in [national/international] disease registries for many of the lysosomal storage diseases.

    513-636-4760

    A photo of Taosheng Huang.

    Taosheng Huang, MD, PhD

    studies the molecular basis of genetic syndromes, applies the discoveries from rare diseases to common conditions, and develops treatments for genetic diseases.

    513-803-9260

    A photo of Ronghua Li.

    Ronghua Li, PhD

    is a research instructor in Division of Human Genetics in Cincinnati Children’s Hospital Medical Center who has many years of experience in investigating mitochondrial mutations and human diseases as well as seeking therapeutic ways for these diseases. In recent years, he has 37 publications related to the mitochondrion field.

    513-636-5852

    A photo of Lisa Martin, PhD.

    Lisa J. Martin, PhD

    is a statistical geneticist. Dr. Martin’s goal is to advance knowledge of disease processes by integrating statistical genetics with biology and epidemiology. Through independent and collaborative research, she expects to translate genetic findings to clinical utility by developing of innovative methods and aiding researchers in designing appropriate studies to address the questions at hand.

    513-636-1244

    A photo of Derek Neilson.

    Derek E. Neilson, MD

    studies the genetic contributions to acute necrotizing encephalopathy (ANE), a disorder in which children are predisposed to a devastating neurologic injury following common infections. 

    513-636-4760

    A photo of Manoj Pandey.

    Manoj K. Pandey, PhD

    focuses on Gaucher and other Lysosomal storage diseases. Specifically, his research aims to illustrate the role of several immunological cells and their competence for glucosylceramide species accumulation, assess specific innate and adaptive immune responses and develop alternative therapy for such rare diseases.

    513-803-1694

    A photo of Daniel Prows, MD.

    Daniel R. Prows, PhD

    has identified quantitative trait loci (QTLs) containing genes that predispose to acute lung injury induced by the oxidants hyperoxia, ozone, and nickel sulfate aerosol. Long-term goals are to identify the respective quantitative trait genes (QTGs) and their correct combinations to improve outcomes. Collaborative studies seek to identify genes affecting susceptibility to anthrax spore inhalation and modifier genes affecting severity of interstitial lung disease.

    Visit the Prows Lab

    513-636-5440

    A photo of Howard Saal.

    Howard M. Saal, MD, FACMG Director, Clinical Genetics

    is a clinical geneticist interested in craniofacial anomalies, with a special interest in the causes and patient outcomes of velocardiofacial syndrome (VCFS), cleft lip and cleft palate (CL/CP), airway management of Pierre-Robin sequence (PRS), and speech disorders related to genetic disorders

    513-636-2438

    A photo of Elizabeth Schorry.

    Elizabeth K. Schorry, MD Director, Neurofibromatosis Clinic

    is a clinical geneticist and has an integral part of clinical studies in neurofibromatosis (NF), including the natural history of bone complications, learning and behavioral problems in patients with NF1, and drug trials for plexiform neurofibromas and other NF-related tumors.

    513-636-0121

    A photo of Teresa Smolarek.

    Teresa Smolarek, PhD Director, Cytogenetics Laboratory

    leads studies to assess, optimize and implement state-of-the art cytogenetics analyses, such as the implementation of the SNP microarray to detect DNA dosage changes that are smaller than what can be detected through routine chromosomal analyses.

    513-636-7221

    A photo of Rolf Stottmann.

    Rolf W. Stottmann, PhD

    is a developmental geneticist with an interest in using animal models to understand the genetic basis of human congenital defects. His lab is using both forward and reverse genetics to identify novel loci required for normal development. Further studies are then done to study the underlying molecular mechanism(s) leading to the defect. Specific areas of interest are cortical neuron development and craniofacial genetics.
    Visit the Stottmann Lab

    513-636-7136

    A photo of Ying Sun.

    Ying Sun, PhD

    studies the physiologic roles of prosaposin using mouse models. Separate studies characterize the pathogenesis of neuronopathic Gaucher disease and its potential therapies.

    513-636-0344

    A photo of Kejian Zhang.

    Kejian Zhang, MD, MBA Director, Molecular Genetics Laboratory

    performs clinical and translational research on the genetic etiology of primary immunodeficiencies, such as hemophagocytic lymphohistiocytosis (HLH), X-linked lymphoproliferative disease (XLP) and autoimmune lymphoproliferative syndrome (ALPS), and participates in the genetic pharmacology service, a multidisciplinary team assembled to advance personal and preventive medicine. 

    513-636-0121

    A photo of Ge Zhang.

    Ge Zhang, MD, PhD

    is a statistical geneticist who has research interest inunderstanding the genetic and evolutionary architecture of human complex traits with significant health impacts. His current studies include genome-wide association analysis of metabolic syndrome andrelated quantitative traits; mathematical modeling of genetic variation and its contribution to human complex phenotypes.

    513-636-7219