Division of Human Genetics Diagnostic Laboratories

  • Meet the Team

    The Cytogenetics Laboratory at Cincinnati Children's Hospital Medical Center is fortunate to be home to many dedicated and talented faculty and staff.

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    Faculty

    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 Xia Li.

    Xia Li, PhD
    Assistant Director, Cytogenetics Laboratory

    513-803-4474

    xia.li@cchmc.org

    Xia Li, PhD

    Assistant Director, Cytogenetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-4474

    Email: xia.li@cchmc.org

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    Specialties

    Molecular oncology

    Biography

    In 2010, as a principal investigator, Dr. Li received a NIH grant (2010-2015) titled “Comparative Genetics of Sweet Taste in Carnivora” (R01DC010842-01A1). Now, she serves as a consultant. She also own two patents: 

    • 2008 Li X, Li W, Reed DR, Bachmanov AA, Brand JG. A novel taste receptor of the T1R family from domestic  cat, Felis catus (US Patent No. 10/591,360, Australia Patent No. 2004256023, European Patent Appl. 04752212.3)
    • 2009 Li X, Li W, Brand JG. Taste Receptors of the T1R Family from Domestic Dog (US Patent Application No. 11/578,472). 
    As an assistant professor / assistant director of the Cytogenetics Laboratory, Dr. Li oversees the operation of the Cytogenetics Lab. In the last three years, she has signed out more than 20,000 clinical cytogenetic cases with more than 35,000 tests (80% BM and solid tumors, 20% prenatal and constitutional cases). Now her focus is to develop and implement new tests and expand test menu for FISH.

    From 2010-2012, I received the following board certification/license: 

    • ABMG: Clinical Cytogenetics, 09/01/2011 
    • ASCP/BOC: Technologist in Cytogenetics, 03/19/2010
    • CAP: Team member training, 11/11/2011, Team Leader training, 12/01/2011
    • New York State of Department of Health: Cytogenetics, CQ code: LIXXX5, 04/06/2012
    • National Provider Identifier (NPI) number: 1134486848

    Education and Training

    PhD: Fudan University, Shanghai, China, 1998.

    Clinical Cytogenetics Training: Children’s Hospital of Philadelphia, Philadelphia, PA, 2010.

    Publications

    Grants

    Comparative Genetics of Sweet Taste in Carnivora. Consultant. PA-09-058-Structural Analysis of The ligand-Binding. Properties of Taste and Smell Receptors. 2010-2015. (R01DC010842-01A1)

    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 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.

    Genetic Counselors

    A photo of Jennifer Glass.

    Jennifer E. Glass, LGC
    Genetic Counselor II, Division of Human Genetics

    513-803-3264

    jennifer.glass@cchmc.org

    A photo of Kristen Sund.

    Kristen L. Sund, PhD, LGC
    Genetic Counselor II, Division of Human Genetics

    513-803-1703

    kristen.sund@cchmc.org


    Staff

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    Margie L. Hayes, BS, CG(ASCP)cm
    Laboratory Manager, Cytogenetics, Division of Human Genetics

    513-636-9695

    margie.hayes@cchmc.org

    No photo available

    Carole Anne Henon Jayne, BA, CLSp(CG)
    Performance Improvement Coordinator, Division of Human Genetics

    513-636-8197

    carole.jayne@cchmc.org