Research Faculty

Carrie L. Atzinger, MS, CGC Assistant Director, GC Graduate Program

Lindsey Barske, PhD, studies the genetic factors that control the emergence of different skeletal cell fates at different times during craniofacial development, using both zebrafish and mouse models. A goal of her research is to understand how deviations leading to precocious differentiation may underlie congenital disorders of the craniofacial complex in human populations.

513-803-1480 lindsey.barske@cchmc.org

Artem Barski, PhD Director, Epigenomics Data Analysis Core

Artem Barski, PhD, uses cutting-edge genomic technologies (such as ChIP-Seq and RNA-Seq) to understand contribution of epigenetic mechanisms and polymerase stalling to T cell activation, differentiation and to formation of T cell memory.
Visit the Barski Lab.

513-636-1851 artem.barski@cchmc.org

Alyce Belonis, MD

513-636-4760 brittany.haught@cchmc.org

D. Brian Dawson, PhD Director, Clinical Laboratories, Division of Human Genetics

D. Brian Dawson, PhD, is a clinical molecular geneticist who has translated basic science findings into clinical molecular assays since 1988. He has developed molecular diagnostic assays in the areas of genetics, virology, hematopathology and neurology. Dr. Dawson anticipates collaborative development of genomic testing capabilities within the Division of Human Genetics to support the needs of the patients served by Cincinnati Children's Hospital Medical Center.

513-803-9121 d.dawson@cchmc.org

Qiaoning Guan, MD, PhD Director, Laboratory of Genetics and Genomics, Division of Human Genetics

513-803-1767 qiaoning.guan@cchmc.org

Matthew Hestand, PhD Assistant Director, Bioinformatics, Division of Human Genetics

Matthew Hestand, PhD, is interested in the 22q11 deletion syndrome and implementing the newest sequencing technologies.

513-803-9033 matthew.hestand@cchmc.org

Robert J. Hopkin, MD Program Director, Medical Genetics Residency Programs, Division of Human Genetics

Robert J. Hopkin, MD, 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 rob.hopkin@cchmc.org

Nancy Doan Leslie, MD Director, Clinical Genetics Fellowship Program

Nancy Doan Leslie, MD, 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 nancy.leslie@cchmc.org

Jie Liu, PhD

513-636-2063 jie.liu@cchmc.org

Yaping Liu, PhD

Yaping Liu, PhD, is dedicated to develop and apply machine learning and high-throughput experimental methods to understand the gene regulation and non-coding genetic variants. Specifically, he is interested in extracting genetic and multi-dimensional epigenetic information from circulating cell-free DNA, exosomal-DNA and its related cell types to explore the role of epigenetics in gene regulation and therefore bridge the gap between genetic and phenotypic variations at different healthy and pathological conditions.

513-803-3207 yaping.liu@cchmc.org

Lisa J. Martin, PhD

Lisa J. Martin, PhD, uses statistics to understand how in children outcomes, such as heart defects, allergic diseases, and response to medications, are influenced by genes. Her work incorporates interaction effects between genetic variants and either the environment or other genetic variants. This because most genetic variants do not act in isolation but are important only in the context of specific environments or other genetic variants.

513-636-1244 lisa.martin@cchmc.org

Louis J. Muglia, MD, PhD Adjunct Professor, Human Genetics

Louis J. Muglia, MD, PhD, is a pediatric endocrinologist whose research efforts seek to define the mechanisms controlling the timing for birth in humans to prevent or better treat human preterm labor. Recent efforts analyze the contribution of genetic determinants to preterm birth. A second area of investigation is elucidation of the molecular pathways involved in the behavioral and neuroendocrine responses to stress.

513-803-7902 louis.muglia@cchmc.org

Melanie F. Myers, PhD Director, Genetic Counseling Graduate Program

513-636-8448 melanie.myers@cchmc.org

William C. Nichols, PhD Associate Director of Research, Division of Human Genetics

William C. Nichols, PhD, 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.

Visit the Nichols Lab.

513-636-4750 bill.nichols@cchmc.org

Manoj K. Pandey, PhD

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.

Visit the Pandey Lab.

513-803-1694 manoj.pandey@cchmc.org

Michael W. Pauciulo, MBA Director, Discover Together Biobank

Michael Pauciulo, MBA's research interests include biobanking, biospecimen science, and pulmonary arterial hypertension.

513-803-3842 mike.pauciulo@cchmc.org

Loren DM Pena, MD, PhD Clinical Geneticist, Division of Human Genetics

Loren Pena, MD, PhD, is a clinical investigator with an interest in rare disease therapeutics and delineation of the phenotypic spectrum for new genetic disorders. She is focused on natural history development for Shashi Pena syndrome, caused by mutations in the ASXL2 gene, and NEDAMSS, caused by mutations in the IRF2BPL gene. She is interested in development of new treatments for rare disease, and has been principal investigator for clinical trials utilizing enzyme replacement therapy, antisense oligonucleotides, and gene therapy for various genetic disorders such as Pompe and Gaucher disease, and spinal muscular atrophy (SMA).

513-636-4760 loren.pena@cchmc.org

Carlos E. Prada, MD Co-Director, RASopathy Program

Carlos E. Prada, MD, investigates possible pharmacological interventions to modify disease related complications in the RASopathies and metabolic diseases. The goal of his research is to provide insight into the genetic basis, mechanism, and potential treatment interventions.

513-636-4760 carlos.prada@cchmc.org

Daniel R. Prows, PhD

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 daniel.prows@cchmc.org

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

Howard M. Saal, MD, FACMG, 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 howard.saal@cchmc.org

Elizabeth K. Schorry, MD Member, Division of Human Genetics

Elizabeth K. Schorry, MD, 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.

513-636-4760

Brittany N. Simpson, MD

513-636-4760 brittany.simpson@cchmc.org

Teresa Smolarek, PhD Director, Laboratory of Genetics and Genomics, Division of Human Genetics

Teresa Smolarek, PhD, 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 teresa.smolarek@cchmc.org

Rolf W. Stottmann, PhD

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 rolf.stottmann@cchmc.org

Ying Sun, PhD

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 ying.sun@cchmc.org

K. Nicole Weaver , MD Clinical Geneticist, Division of Human Genetics

513-636-4760 kathryn.weaver@cchmc.org

Yaning Wu, MD, PhD, FACMG Director, LGG Laboratory, Division of Human Genetics

513-636-5763 yaning.wu@cchmc.org

Masashi Yamaji, PhD

The germline presents a unique system for functional studies of process-specific RNA-binding proteins (RBPs), as it has a highly specialized RNA metabolism. Dr. Yamaji investigates RNA regulations underlying self-renewal of spermatogonial stem cells, which are responsible for the life-long spermatogenesis. His group combines cellular, biochemical, and genome-wide approaches to identify the gene regulatory networks controlled by the germline RBPs.

513-803-8039 masashi.yamaji@cchmc.org

Ge Zhang, MD, PhD

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

513-636-7219 ge.zhang@cchmc.org

Wenying Zhang, MD, PhD, MBA, FACMG Director, Laboratory of Genetics and Genomics (LGG), Division of Human Genetics

513-803-7886 wenying.zhang@cchmc.org

Human Genetics

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