Human Genetics

  • Research Faculty

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    Division Head

    A photo of Dr. 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
    nancy.leslie@cchmc.org

    Nancy Doan Leslie, MD

    Interim Co-Director, Division of Human Genetics

    Director, Clinical Genetics Fellowship Program

    Academic Information

    Professor, UC Department of Pediatrics

    Phone: 513-636-2438

    Fax: 513-636-7297

    Email: nancy.leslie@cchmc.org

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    Specialties

    Clinical Interests

    Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease

    Research Interests

    Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia

    Education and Training

    MD: Washington University, St. Louis, MO, 1975 to 1979. 

    Internship and Residency: University of Cincinnati College of Medicine, Cincinnati, OH.

    Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982 to 1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993 to 1995.

    Certification: American Board of Pediatrics, 1986; American Board of Pediatrics, Sub-Board of Pediatric Endocrinology, 1989; American Board of Medical Genetics, Board-Certified in Clinical Genetics and Clinical Biochemical Genetics, 1996, Active in MOC.

    Publications

    View PubMed Publications
    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
    bill.nichols@cchmc.org

    William C. Nichols, PhD

    Interim Co-Director, Division of Human Genetics

    Director, National Biological Sample and Data Repository for PAH

    Associate Director of Research, Human Genetics

    Academic Information

    Professor, UC Department of Pediatrics

    Phone: 513-636-4717

    Email: bill.nichols@cchmc.org

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    Specialties

    Elucidation of the molecular basis for primary pulmonary hypertension (PPH); mapping of genes contributing to Parkinson Disease (PD); mapping of genes contributing to juvenile rheumatoid arthritis (JRA); genetic mapping of other mendelian disorders.

    Education and Training

    PhD: Department of Medical Genetics, Indiana University, Indianapolis, IN, 1983-89. Associate, Howard Hughes Medical Institute, Ann Arbor, MI, 1989-91. 

    Research Fellow: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 1991-92. 

    Research Investigator: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 1992-1998.

    Publications

    View PubMed Publications

    Grants

    Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension. Principle Investigator. NIH/NHLBI. April 2010-March 2015. 5 R01 HL102107-04.

    Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension. Principle Investigator. April 2010-March 2015. 3 R01 HL102107-04S1.

    National Biological Sample and Data Repository for Pulmonary Arterial Hypertension. National Institutes of Health (NIH) /National Heart, Lung and Blood Institute (NHLBI). March 2012-Feb 2017. R24 HL10533.

    Faculty

    A photo of Gregory Grabowski, MD.

    Gregory A. Grabowski, MD

    is the founding scientist of the STAR (Service, Treatment, Advocacy, and Research) Lysosomal Disease Center and has clinical and basic research programs related to these diseases. As PI and co-investigator of several NIH and industry grants and contracts, as well as clinical trials, he oversees divisional programs for the development and evaluation of new treatments and therapies.

    513-636-7290
    greg.grabowski@cchmc.org

    Gregory A. Grabowski, MD

    Academic Information

    N/A

    Adjunct Professor, UC Department of Pediatrics

    Phone: 513-636-7290

    Fax: 513-636-2261

    Email: greg.grabowski@cchmc.org

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    Specialties

    Clinical Interests

    Lysosomal storage diseases; molecular enzymology; gaucher disease; Fabry disease; molecular pathogenesis

    Research Interests

    Molecular pathogenesis and therapy of human genetic disease

    Education and Training

    MD: University of Minnesota Medical School, Minneapolis, MN, 1970 to 1974.

    Residency: University of Minnesota, Minneapolis, MN, 1974 to 1976.

    Fellowship: University of Minnesota, Minneapolis, MN, 1976 to 1979.

    Certification: American Board of Pediatrics, 1980; American Board of Medical Genetics; Clinical Genetics, 1987; Clinical Biochemical Genetics, 1987; Clinical Molecular Genetics, 1993.

    Publications

    View PubMed Publications.
    A photo of Min-Xin Guan, PhD.

    Min-Xin Guan, PhD Adjunct Professor

    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
    min-xin.guan@cchmc.org

    Min-Xin Guan, PhD

    Adjunct Professor

    Academic Information

    UC Department of Pediatrics

    Phone: 513-636-3337

    Fax: 513-636-2261

    Email: min-xin.guan@cchmc.org

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    Specialties

    Mitochondrial biogenesis; cellular and molecular biology of mitochondrial disorders, especially in hearing loss and neuromuscular disorders.

    Education and Training

    BS: Biology, Hangzhou University, 1983.

    PhD: The Australian National University, Canberra, Australia, 1993.

    Research Fellow: California Institute of Technology, Pasadena, CA, 1993-1996.

    Senior Research Fellow: California Institute of Technology, Pasadena, CA, 1996-1999.

    Publications

    View PubMed Publications
    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
    rob.hopkin@cchmc.org

    Robert J. Hopkin, MD

    Co-Director, 22Q-VCFS Center

    Academic Information

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-4760

    Fax: 513-636-7297

    Email: rob.hopkin@cchmc.org

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    Specialties

    Clinical Interests

    Fabry disease and other lysosomal storage diseases; craniofacial genetics; 22q11 deletion; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes

    Research Interests

    Fabry disease; Robin sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies

    Biography

    Robert J. Hopkin, MD, is an assistant professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center. Dr. Hopkin graduated from the University of Nevada Medical School. He completed residency and chief residency in Pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. His training in Medical Genetics was completed at Cincinnati Children's Hospital Medical Center.

    The majority of Dr. Hopkin's time is spent in caring for patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. He is also actively involved in education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in a number of clinical trials and is a member of American College of Medical Genetics Committee on Therapeutics. He has participated in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, Pierre Robin sequence, Neurofibromatosis type I, and several other genetic conditions. The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.

    Education and Training

    MD: University of Nevada Medical School, Reno, NV, 1990.

    Residency: Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1993; Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1994.

    Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1997.

    Certification: Pediatrics, 1993; Clinical Genetics, 1996.

    Publications

    View PubMed Publications
    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
    taosheng.huang@cchmc.org

    Taosheng Huang, MD, PhD

    Academic Information

    Professor, UC Department of Pediatrics

    Phone: 513-803-9260

    Email: taosheng.huang@cchmc.org

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    Specialties

    Human genetics; mitochondrial diseases.

    Visit the Huang Lab.

    Biography

    Taosheng Huang, MD, PhD, is a physician-scientist with substantial experience in translation research, particularly in mitochondrial medicine. After obtaining his MD, PhD, Dr. Huang did his pediatrics residency at Georgetown University Hospital 1993 to 1996. He completed his clinical genetics and clinical molecular genetics fellowship at Harvard Medical School and became a junior faculty member at the Children’s Hospital at Harvard from 1999. Dr. Huang is board-certified in Pediatrics, Clinical Genetics and Clinical Molecular Genetics. Dr. Huang moved to UC Irvine in 2001 and became a independent investigator. 

    The primary interest of his lab is in translation research, such as the genetic basis of optic atrophy and other mitochondrial diseases. Dr. Huang has published over 50 articles on a variety of topics that range from genetic syndromes to molecular mechanisms with experience and spectrum of interests. Recently, he has been working on mitochondria-related optic atrophy and the molecular basis of other mitochondria disease. He served as the director for the MitoMed Molecular Diagnostics Lab at UC Irvine for 8 years. The laboratory is CLIA-certified and mainly engaged in the study of molecular basis of mitochondria disease. The mutation of mitochondrial genome causes many human conditions, including cancer, diabetes and degenerative neurological disorders. Recently, Dr. Huang moved to Cincinnati Children's Hospital Medical Center to direct the program of mitochondrial medicine.  The goal of the program is to integrate the research, molecular testing and clinical service to improve the care of patients with mitochondrial disease.

    Education and Training

    PhD: Biomedical Science, Mount Sinai Medical School, New York, 1991.         

    MS: Biochemistry, The Third Military Medical College, Chongqing, China, 1986.

    MD: (Passed US Medical Board Exam step I, Step II and Step III), Fujian Medical College, Fuzhou, Fujian, China, 1983.

    Research Fellowship: Seidman Laboratory, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, Dec 1997 - Jul 1999.

    Clinical Fellowship: Clinical Genetics and Clinical Molecular Genetics, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, Jul 1996 - Jul 1999.

    Residency: Pediatrics, Georgetown University Medical School, Children’s Medical Center, Washington, DC, Jul 1993- Jul 1996.

    Postdoctoral Fellowship: Jerome H. Holland Laboratory, American Red Cross, Rockville, Maryland, Dec 1991 - Jul 1993.

    Publications

    Grants

    Genetics studies of optic atrophy. Principal Investigator. National Eye Institute. Apr 2008 - Mar 2014.
    A photo of Li Ronghua.

    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
    ronghua.li@cchmc.org

    Ronghua Li, PhD

    Academic Information

    Instructor, UC Department of Pediatrics

    Phone: 513-636-5852

    Email: ronghua.li@cchmc.org

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    Specialties

    Mitochondrial genetic and functional study

    Biography

    Ronghua Li, PhD, is a mitochondrial geneticist. Right now he is focused on generation cell-specific or tissue-specific models for mitochondrial disease to study molecular/cellular mechanisms of mitochondrial disease.

    Education and Training

    MD: Luzhou Medical College, China, 1983.

    PhD: West China University of Medical Sciences, China, 1995.

    Research Fellow: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2001.

    Research Associate: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2004.

    Publications

    View PubMed Publications
    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
    lisa.martin@cchmc.org

    Lisa J. Martin, PhD

    Academic Information

    Professor, UC Department of Pediatrics

    Phone: 513-636-1244

    Fax: 513-636-7509

    Email: lisa.martin@cchmc.org

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    Specialties

    Research

    Statistical genetics; allergic conditions; pediatric heart conditions; obesity

    Biography

    As a statistical geneticist, Dr. Martin’s goal is to advance knowledge of underlying disease processes by improving our understanding of genetic variation in human populations through the integration of statistical genetics with biology and epidemiology. Since joining Cincinnati Children’s in 2002, Dr. Martin has become a leader in quantitative genetics through independent and collaborative research, leadership, and teaching/mentoring. Her independent research focuses on development of novel statistical methods and the evaluation of methods for next generation data. 

    Recently, Dr. Martin published a novel statistical method (Variant Impact On Linkage Effect Test; VIOLET), which overcomes a methodological barrier to gene discovery.   Her collaborative research focuses on allergic conditions (asthma, eosinophilic esophagitis), pediatric heart conditions, and obesity.  In addition, Dr. Martin assists researchers with an interest in incorporating genetics into their research.   At the end of 2013, Dr. Martin had published 116 peer-reviewed publications (journals include Nature Genetics, PNAS, Journal of Clinical Endocrinology and Metabolism) and 2 book chapters.

    She has a strong commitment to teaching and mentorship. Beyond teaching, she has mentored over 30 individuals. Additionally, Dr. Martin is the co-director of the Cincinnati Genomic Control Cohort, an institutional resource of 1,020 population representative children with phenotypic and genetic information.  Under Dr. Martin’s leadership, utilization of this cohort has increased. 

    In summary, Dr. Martin’s work has resulted in the development of an exciting research program as well as fruitful collaborations while balancing mentoring and service.  She expects that this research will enable the translation of genetic findings to clinical utility through the development of innovative methods and greater capacity to perform complex genetic analyses particularly given the rapid evolution of technologies.

    Education and Training

    PhD: (with Honors) University of Kansas, Lawrence KS, 1999

    Post-doctoral fellow: Southwest Foundation for Biomedical Research, San Antonio TX, 2002

    Publications

    View PubMed Publications
    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
    derek.neilson@cchmc.org

    Derek E. Neilson, MD

    Academic Information

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-4760

    Email: derek.neilson@cchmc.org

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    Biography

    Dr. Neilson studies genetic contributions to the disorder acute necrotizing encephalopathy (ANE), in which children are predisposed to devastating neurologic injury following common infections. Research involving families with recurrent ANE has revealed a candidate gene which is now being studied in mouse and cellular models.

    Education and Training

    MD: Oregon Health Sciences University, 1998.

    BA: Biology, Johns Hopkins University, 1993.

    Publications

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    Sunghee Oh, PhD

    is an assistant professor in division of human genetics at Cincinnati children’s hospital medical center. Dr. Oh's research interests focus on statistical analyses and development/application of statistical novel methodologies in genomic, particularly next generation transcriptomic sequencing data and other types of NGS data, gene regulatory networks from gene expression transcriptome data based on Bayesian approaches; cross-species analysis;trajectory model; non/semi parametric methods.

    513-803-5086
    sunghee.oh@cchmc.org

    Sunghee Oh, PhD

    Academic Information

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-5086

    Email: sunghee.oh@cchmc.org

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    Biography

    Dr. Sunghee Oh received a PhD at the graduate school of public health, University of Pittsburgh in 2009 and completed postdoctoral studies in the Dr. James P. Noonan Laboratory at Yale School of Medicine. During postdoctoral training, Dr. Oh's research was in statistical and computational methodology in next generation sequencing data under the supervision of Dr. James P. Noonan and Dr. Hongyu Zhao.

    Education and Training

    Postdocs: Yale School of Medicine, New Haven, CT, 2011.

    PhD: University of Pittsburgh, Pittsburgh, PA, 2009.

    Publications

    View PubMed Publications
    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
    manoj.pandey@cchmc.org

    Manoj K. Pandey, PhD

    Academic Information

    Instructor, UC Department of Pediatrics

    Phone: 513-803-1694

    Email: manoj.pandey@cchmc.org

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    Specialties

    Clinical

    Immunology

    Research

    Lipid arbitrated antibodies and cytokines comebacks in several Lysosomal diseases.

    Biography

    Manoj Kumar Pandey is a scientist in the Division of Human Genetics at Cincinnati Children's Hospital and Medical Research Center. Dr. Pandey earned his PhD in the topic “Maternal Immunoregulation and Fetal Survival” from the Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, India. He completed his Post-Doctoral Trainings from Mayo Clinic, Rochester, MN and Cincinnati Children’s Hospital and Medical Research Center, Cincinnati, OH. Dr. Pandey has presented and published his research outcomes in various national and international sessions and reputed peer-reviewed medical and scientific journals. He is a member of the American Association of Immunology, the American Association for the Advancement of Science, the International Society of Complement and the Mayo Clinic Alumni Association. The mainstream of Dr. Pandey’s research is based on the characterization of various immunological cells as well as their effector functions for persuading inflammation in illnesses like immune complex mediated diseases, asthma, cancer, recurrent spontaneous abortion and Gaucher diseases.

    Education and Training

    MS: CSJM University, India, 1995.

    PhD: Sanjay Gandhi Post Graduate Institute of Medical Sciences, India, 2003.

    Post Doc: Mayo Clinic, Rochester, MN, 2004.

    Post Doc: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2008.

    Publications

    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
    daniel.prows@cchmc.org

    Daniel R. Prows, PhD

    Academic Information

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-5440

    Fax: 513-636-3486

    Email: daniel.prows@cchmc.org

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    Specialties

    Education and Training

    BS Biology:University of Cincinnati, 1983.

    BS Pharmacy:University of Cincinnati, 1988.

    PhD Pharmaceutical Sciences: University of Cincinnati, 1995.

    Publications

    View PubMed Publications

    Grants

    Genetic Analysis of Hyperoxia-Induced Acute Lung Injury. Principal Investigator. The National Heart, Lung, and Blood Institute. May 2009 - Apr 2013. #R01 HL75562-06A1.
    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
    howard.saal@cchmc.org

    Howard M. Saal, MD, FACMG

    Director, Clinical Genetics

    Director, Cytogenetics Laboratory

    Co-Director, 22Q-VCFS Center

    Academic Information

    Professor, UC Department of Pediatrics

    Phone: 513-636-2438

    Fax: 513-636-7297

    Email: howard.saal@cchmc.org

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    Specialties

    Clinical Interests

    Craniofacial disorders, community genetics, growth disorders, 22Q-VCFS

    Research Interests

    Genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation

    Biography

    Howard M. Saal, MD, a highly respected clinical geneticist and dysmorphologist, is the head of the section of Clinical Genetics in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center. In addition to being board certified in clinical genetics and pediatrics, Dr. Saal is a board certified cytogeneticist.

    Early in his career, he was the Director of the Cytogenetics Laboratory at the University of Connecticut Health Center, where he was also the associate director of the Craniofacial Disorders Team.

    Dr. Saal is interested in the genetic causes of craniofacial disorders, especially cleft lip and cleft palate. He also has a significant interest in the natural history of genetic conditions, and has authored or co-authored numerous publications centering on the natural history and management of various genetic conditions, with special attention to neurofibromatosis, cleft lip, cleft palate, Pierre Robin sequence and 22Q-VCFS.

    After leaving Connecticut, Dr. Saal went to Children's National Medical Center in Washington, DC, where he was the Vice-Chairman of the Department of Medical Genetics and co-director of the Craniofacial Center. His clinical activities included establishment of the Neurofibromatosis Clinic, the Biochemical Genetics Clinic, and the multidisciplinary Skeletal Dysplasia Clinic with his colleagues at Children's National Medical Center. His interest in community activities led to his being named to the Health Professionals Advisory Committee and later to the Board of Directors of the National Capital Area March of Dimes.

    Dr. Saal joined the staff at Cincinnati Children's in 1993 as the Head of Clinical Genetics. He has been an active participant in numerous clinical settings and has established the Hereditary Cancer Program, a unique local resource for families with familial and inherited cancers.

    Dr. Saal is involved in community activities and has established urban genetics outreach clinics at three sites in Hamilton County. He has also been appointed as acting director of the Craniofacial Center at Cincinnati Children's, where he continues to cultivate his interests in the care of children with craniofacial disorders.

    Education and Training

    MD: Wayne State University, Detroit, MI, 1975-1979.

    Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.

    Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.

    Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.

    Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.

    Publications

    View PubMed Publications
    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
    elizabeth.schorry@cchmc.org

    Elizabeth K. Schorry, MD

    Director, Neurofibromatosis Clinic

    Director, Adult Neurofibromatosis Clinic

    Academic Information

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-0121

    Fax: 513-636-7297

    Email: elizabeth.schorry@cchmc.org

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    Specialties


    Biography

    Elizabeth Schorry, MD, received her undergraduate degree at the University of Cincinnati and her MD at the University of Michigan in Ann Arbor, Michigan.

    Dr. Schorry completed a residency in pediatrics and a fellowship in medical genetics at Cincinnati Children's Hospital Medical Center. She has been a faculty member in the Division of Human Genetics at Cincinnati Children's since 1988.

    Dr. Schorry provides medical management, genetic assessment and genetic counseling for children with a wide range of genetic disorders and congenital anomalies. She has a special interest in neurofibromatosis and tuberous sclerosis.

    Education and Training

    BS: Biology, University of Cincinnati, Cincinnati, OH, 1977.

    MD: University of Michigan, Ann Arbor, MI, 1982.

    Residency: Pediatrics, Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.

    Fellowship: Genetics, Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.

    Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.

    Publications

    View PubMed Publications
    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
    teresa.smolarek@cchmc.org

    Teresa Smolarek, PhD

    Director, Cytogenetics Laboratory

    Academic Information

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-7221

    Fax: 513-636-4373

    Email: teresa.smolarek@cchmc.org

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    Specialties

    Genetic basis of pulmonary lymphangioleiomyomatosis (LAM); cancer genetics; clinical cytogenetics

    Education and Training

    PhD: Medical Genetics, Indiana University School of Medicine, 1995.

    Certification: American Board of Medical Genetics, Clinical Cytogenetics, 2002; Clinical Molecular Genetics, 2005.

    Publications

    View PubMed Publications.
    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
    rolf.stottmann@cchmc.org

    Rolf W. Stottmann, PhD

    Academic Information

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-7136

    Email: rolf.stottmann@cchmc.org

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    Specialties

    Developmental neurobiology; genetics; animal models of human congenital defects

    Visit the Stottmann Lab

    Education and Training

    BS: University of Maryland, College Park, MD, 1995.

    MS: University of Maryland, College Park, MD, 1997.

    PhD: Duke University School of Medicine, Durham, NC, 2004.

    Postdoctoral Training: Brigham & Women’s Hospital; Harvard Medical School.

    Publications

    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
    ying.sun@cchmc.org

    Ying Sun, PhD

    Academic Information

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-0344

    Fax: 513-636-3486

    Email: ying.sun@cchmc.org

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    Specialties

    Molecular pathogenesis and therapy of lysosomal storage diseases; glycosphingolipids metabolism; neurodegeneration

    Education and Training

    PhD: Pharmacology, University of Cincinnati, Cincinnati, OH, 1992.

    Post doctoral fellow: Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1996.

    Publications

    View PubMed Publications
    A photo of  Sivakumaran Theru-Arumugam.

    Sivakumaran Theru-Arumugam, PhD Associate Director, Molecular Genetics Laboratory

    seeks to identify the genes contributing to the susceptibility of common eye diseases/traits, such as age-related macular degeneration and retinal vessel diameter.

    513-636-4475
    siva.theru_arumugam@cchmc.org

    Sivakumaran Theru-Arumugam, PhD

    Associate Director, Molecular Genetics Laboratory

    Academic Information

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-4475

    Email: siva.theru_arumugam@cchmc.org

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    Specialties

    Ophthalmic genetics

    Education and Training

    MSc: Andhra University, India.

    PhD: All India Institute of Medical Sciences, New Delhi, India.

    Fellowship: Harvard Medical School.

    Certification: Clinical Molecular Genetics, 2007.

    Publications

    View PubMed Publications
    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
    kejian.zhang@cchmc.org

    Kejian Zhang, MD, MBA

    Director, Molecular Genetics Laboratory

    Academic Information

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-0121

    Fax: 513-636-2261

    Email: kejian.zhang@cchmc.org

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    Specialties

    Clinical Interests

    Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions

    Research Interests

    Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)

    Education and Training

    MD: Tianjin Medical University, Tianjin, China, 1993

    MBA: University of Cincinnati, College of Business Administration, 2001

    Residency: Gong'an Hospital, Tianjin, China, 1993-1995

    Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004

    Publications

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    Grants

    Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012.

    MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.

    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
    ge.zhang@cchmc.org

    Ge Zhang, MD, PhD

    Academic Information

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-7219

    Email: ge.zhang@cchmc.org

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    Specialties

    Statistical genetics; population genetics

    Education and Training

    MD: West China University of Medical Sciences, Chengdu, China, 1997.

    PhD: University of Cincinnati, Cincinnati, OH, 2007.

    Publications

    View PubMed Publications