Human Genetics

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    Faculty

    A photo of Andrew Burrow.

    T. Andrew Burrow, MD
    Assistant Professor, Clinical Genetics and Medical Biochemical Genetics

    513-636-4760

    thomas.burrow@cchmc.org

    Andrew Burrow, MD

    Assistant Professor, Clinical Genetics and Medical Biochemical Genetics

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-4760

    Fax: 513-636-7297

    Email: thomas.burrow@cchmc.org

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    Specialties

    Clinical Interests

    Lysosomal storage diseases; inborn errors of metabolism

    Research Interests

    Clinical trials; lysosomal storage diseases; biomarkers in gaucher diseases

    Education and Training

    MD: University of Arkansas for Medical Sciences, Little Rock, AR, 2003.

    Residency: Pediatrics and Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2008.

    Fellowship: Medical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2009.

    Certification: Pediatrics, 2007; Clinical Genetics 2009

    Publications

    View PubMed Publications

    Gregory A. Grabowski, MD

    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 Robert J. Hopkin.

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

    513-636-4760

    rob.hopkin@cchmc.org

    Robert J. Hopkin, MD

    Co-Director, 22Q-VCFS Center

    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 Dr. Leslie.

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

    513-636-2438

    nancy.leslie@cchmc.org

    Nancy Doan Leslie, MD

    Interim Co-Director, Division of Human Genetics

    Director, Clinical Genetics Fellowship Program

    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

    Derek E. Neilson, MD

    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

    A photo of William Nichols.

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

    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

    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.


    A photo of Howard Saal.

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

    513-636-2438

    howard.saal@cchmc.org

    Howard M. Saal, MD, FACMG

    Director, Clinical Genetics

    Director, Cytogenetics Laboratory

    Co-Director, 22Q-VCFS Center

    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

    513-636-0121

    elizabeth.schorry@cchmc.org

    Elizabeth K. Schorry, MD

    Director, Neurofibromatosis Clinic

    Director, Adult Neurofibromatosis Clinic

    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

    513-636-7221

    teresa.smolarek@cchmc.org

    Teresa Smolarek, PhD

    Director, Cytogenetics Laboratory

    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 Kejian Zhang.

    Kejian Zhang, MD, MBA
    Director, Molecular Genetics Laboratory

    513-636-0121

    kejian.zhang@cchmc.org

    Kejian Zhang, MD, MBA

    Director, Molecular Genetics Laboratory

    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

    View PubMed Publications

    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.