Human Genetics

  • Meet the Team

    The Division of Human Genetics is home to specialists with a wide variety of backgrounds and areas of focus. As a team, this diversity makes us better prepared to care for your child’s unique needs. Learn more about our faculty, staff and fellows.

  • Show All

    Interim Co-Directors

    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

    Show All

    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

    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

    Show All

    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 Carrie Atzinger.

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

    513-803-5249

    carrie.atzinger@cchmc.org

    Carrie Atzinger, MS, CGC

    Assistant Director, GC Graduate Program

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-5249

    Email: carrie.atzinger@cchmc.org

    Show All

    Education and Training

    MS: University of Cincinnati, Genetic Counseling Program, Cincinnati, OH, 2003.

    Certification: American Board of Genetic Counseling, 2005.

    Publications

    View PubMed Publications

    Artem Barski, PhD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-1851

    Email: artem.barski@cchmc.org

    Show All

    Specialties

    Epigenetics; epigenomics; immunology; T cell memory

    Visit the Barski Lab

    Biography

    Artem Barski, PhD, is interested in epigenetic and transcriptional regulation of gene expression. During his post-doctoral training in Keji Zhao lab at NIH, Dr. Barski took part in the development of ChIP-Seq, a revolutionary method that combines ChIP with the next-generation sequencing. ChIP-Seq allows genome-wide mapping of chromatin modifications and transcription factor binding sites with resolution and sensitivity far exceeding older methods. Together with his NIH colleagues Dr. Barski used this approach to map more than 40 chromatin modifications in human T cells, which fundamentally improved the understanding of epigenetic regulation of transcription. Dr. Barski has since been using ChIP-Seq and other sequencing-based genome-wide methods to understand the role of chromatin modifications in gene regulation. His most recent work includes investigation of chromatin regulation of genes transcribed by RNA Polymerase III and the discovery of gene poising in T cells.

    Since his arrival to Cincinnati Children’s Hospital Medical Center in 2011, Dr. Barski is utilizing ChIP-Seq, RNA-Seq and other cutting-edge approaches to understand epigenetic basis of T cell activation, memory and tolerance.

    Education and Training

    BS/MS: Moscow State University, Department of Chemistry, Moscow, Russia, 2000.

    PhD: University of Southern California, Los Angeles, CA, 2006.

    Fellowship: National Institutes of Health (NIH), National Heart Lung, and Blood Institute (NHLBI), Bethesda, MD, 2011.

    Publications


    A photo of Amber Begtrup.

    Amber Hogart Begtrup, PhD
    Assistant Director, Molecular Genetics Laboratory

    513-803-3837

    amber.begtrup@cchmc.org

    Amber H. Begtrup, PhD

    Assistant Director, Molecular Genetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-3837

    Email: amber.begtrup@cchmc.org

    Show All

    Biography

    Amber Hogart Begtrup received her PhD in genetics with a focus in human genetics from the University of California, Davis in 2003. During her PhD she conducted research to identify underlying molecular etiologies of autism through molecular genetic investigation of human chromosome 15q11-13. In 2003, Dr. Begtrup transitioned to the National Institutes of Health, where she simultaneously performed post-doctoral research in the realm of epigenomics and hematopoietic development and trained in clinical molecular genetics.

    While at the NIH, Dr. Begtrup was funded through the Pharmacology Research Associate Training Program sponsored by the National Institute of General Medical Sciences. During her training, Dr. Begtrup developed interests in bone marrow failure disorders as well as the application of next generation sequencing technologies to clinical genetics.

    Education and Training

    PhD: University of California, Davis.

    Fellowship: Genetics, National Institutes of Health/National Human Genome Research Institute, Bethesda, MD.

    Certification: Clinical Molecular Genetics, 2011.

    Publications

    View PubMed Publications
    A photo of T. Andrew Burrow.

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

    513-636-4760

    thomas.burrow@cchmc.org

    T. 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

    Show All

    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

    Show All

    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.

    John H. Greinwald Jr., MD, FAAP

    Professor, UC Department of Pediatrics

    UC Department of Otolaryngology – Head and Neck Surgery

    Show All

    Biography

    John Greinwald Jr., MD, is a pediatric otolaryngologist at Cincinnati Children's Hospital Medical Center and the Cincinnati Fetal Center.

    Education and Training

    BS: Wofford College, Spartanburg, SC, 1983.

    MD: Medical University of South Carolina, Charleston, SC, 1987.

    Internship: Naval Medical Center, Portsmouth, VA, 1988.

    Residency: Naval Medical Center, Portsmouth, VA, 1995.

    Fellowship: Pediatric Otolaryngology, University of Iowa, Iowa City, IA, 1998.

    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

    Show All

    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

    Taosheng Huang, MD, PhD

    Professor, UC Department of Pediatrics

    Phone: 513-803-9260

    Email: taosheng.huang@cchmc.org

    Show All

    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.

    No photo available

    Mehdi A. Keddache, PhD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-2801

    Email: mehdi.keddache@cchmc.org

    A photo of Sara Knapke.

    Sara C. Knapke, LGC
    Clinical Manager and Certified Genetic Counselor

    513-803-0211

    sara.knapke@cchmc.org

    Sara C. Knapke, LGC

    Clinical Manager and Certified Genetic Counselor

    Phone: 513-803-0211

    Fax: 513-636-7297

    Email: sara.knapke@cchmc.org

    Show All

    Education and Training

    BS: Psychology, Miami University, Oxford, Ohio, 2000.

    MS: Medical Genetics, University of Cincinnati, Cincinnati, Ohio, 2004.

    Certification: American Board of Genetic Counseling, 2005.

    Kakajan Komurov , PhD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-5122

    Email: kakajan.komurov@cchmc.org

    Show All

    Specialties

    Education and Training

    PhD: The University of Texas Southwestern Medical Center, Dallas TX.

    Publications

    Ronghua Li, PhD

    Instructor, UC Department of Pediatrics

    Phone: 513-636-5852

    Email: ronghua.li@cchmc.org

    Show All

    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 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

    Show All

    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)

    Lisa J. Martin, PhD

    Professor, UC Department of Pediatrics

    Phone: 513-636-1244

    Fax: 513-636-7509

    Email: lisa.martin@cchmc.org

    Show All

    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 Melanie Myers.

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

    513-636-8448

    melanie.myers@cchmc.org

    Melanie F. Myers, PhD

    Director, Genetic Counseling Graduate Program

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-8448

    Fax: 513-636-0543

    Email: melanie.myers@cchmc.org

    Show All

    Specialties

    Evaluating family health history as a health promotion and disease prevention tool; direct-to-consumer marketing of genetic testing; and outcomes research in genetic counseling

    Biography

    Melanie Myers, PhD directs the Cincinnati Genetic Counseling Graduate Program. Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. Students are trained to interpret family and medical histories to assess the chance of disease occurrence or recurrence, provide education about inheritance, testing, management, prevention, resources and research and counseling patients to promote informed choices and adaptation to the risk or condition.

    Dr. Myers has a background in genetic counseling, public health genomics, and applied epidemiology. Prior to joining the Cincinnati Genetic Counseling Graduate Program, Dr. Myers worked in the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC) as a Public Health Geneticist. While there, she led a multi-state investigation to monitor the impact of the first direct-to-consumer marketing campaign for genetic testing for breast and ovarian cancer susceptibility (BRCA1/2). This was the first coordinated public health response to the introduction of a complex genetic test to the general public.

    Dr. Myers also served in the Epidemic Intelligence Service (EIS) in the National Center of Birth Defects and Developmental Disabilities at the CDC. As an EIS Officer, she participated on several outbreak response teams, including STOP (Stop Transmission of Polio) Team 9 in Bangladesh, the New York City Anthrax Team, the World Trade Center Terrorist Attack Response Team, the Dengue Fever Outbreak Response team in Maui and Kawaii, Hawaii, and the West Nile Virus Response Team in Long Island, NY.

    Education and Training

    MS: Genetic Counseling, The University of Cincinnati, Cincinnati, OH, 1990-1992.

    PhD: The Johns Hopkins School of Hygiene and Public Health, Baltimore, MD, 1995-2000.

    Fellowship: Epidemic Intelligence Service Officer, Centers for Disease Control and Prevention, 2000-2002.

    Certification: Genetic Counseling, 1993.

    Publications

    View PubMed Publications

    Derek E. Neilson, MD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-4760

    Email: derek.neilson@cchmc.org

    Show All

    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


    Daniel R. Prows, PhD

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-5440

    Fax: 513-636-3486

    Email: daniel.prows@cchmc.org

    Show All

    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

    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

    Show All

    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 Iris Sageser.

    Iris H. Sageser, RDH, MS
    Administrator, Craniofacial Center

    513-636-4539

    iris.sageser@cchmc.org

    Iris H. Sageser, RDH, MS

    Administrator, Craniofacial Center

    Field Service Associate Professor of Pediatrics

    Phone: 513-636-4539

    Fax: 513-636-7297

    Email: iris.sageser@cchmc.org

    Show All

    Specialties

    Management of multidisciplinary craniofacial services

    Biography

    Iris Sageser, RDH, MS, has been instrumental with the growth of the Craniofacial Center. She has overseen the addition of new team members and new specialties. The most recent specialty to join the Craniofacial Center is Pulmonary Medicine. Ms. Sageser has been an active member of the American Cleft Palate-Craniofacial Association (ACPA) where she has served on a number of committees. Currently she is the chair of the International Outreach Committee. Ms. Sageser has given numerous presentations at the annual ACPA meetings about coordinated team care and team communication challenges. She has collaborated with other team members on research projects. She is currently participating in a Institutional Review Board (IRB) approved Craniofacial Center Registry.

    Education and Training

    MS: University of Michigan, Ann Arbor, Mich., 1977.

    BS: University of Michigan, Ann Arbor, Mich., 1975.

    Licensure: Registered Dental Hygienist, 1974
    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

    Show All

    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

    Rolf W. Stottmann, PhD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-7136

    Email: rolf.stottmann@cchmc.org

    Show All

    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  Sivakumaran Theru-Arumugam.

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

    513-636-4475

    siva.theru_arumugam@cchmc.org

    Sivakumaran Theru-Arumugam, PhD

    Associate Director, Molecular Genetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-4475

    Email: siva.theru_arumugam@cchmc.org

    Show All

    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

    Residents

    DefaultUserSmall

    Sophia M. Hufnagel, MD
    Resident, Pediatric Residency Training Program

    513-636-3740

    sophia.hufnagel@cchmc.org

    DefaultUser

    Sophia M. Hufnagel, MD

    Resident, Pediatric Residency Training Program

    Phone: 513-636-3740

    Email: sophia.hufnagel@cchmc.org

    Show All

    Specialties

    Medical genetics

    Biography

    There are many reasons Sophia Hufnagel, MD, chose to come to Cincinnati Children's: The atmosphere is thick with warmth and teamwork, between all levels of trainees/caretakers. Further, the training itself is fantastic, with learning opportunities present daily. It is impossible to not learn or not make friends in the midst of helping to change the outcome!

    Education and Training

    MD: George Washington University Medical Center, Washington, DC, 2010.

    Residency: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH.

    A photo of Robert Hufnagel.

    Robert Hufnagel, MD, PhD
    Resident, Pediatric Residency Training Program

    513-636-4214

    robert.hufnagel@cchmc.org

    Robert Hufnagel, MD, PhD

    Resident, Pediatric Residency Training Program

    Phone: 513-636-4214

    Email: robert.hufnagel@cchmc.org

    Show All

    Specialties

    Pediatrics and human genetics

    Education and Training

    BS: Hillsdale College, Hillsdale, MI, 2003.

    MD: University of Cincinnati, Cincinnati, OH, 2011.

    PhD: University of Cincinnati, Cincinnati, OH, 2010.


    DefaultUserSmall

    Harry Lesmana, MD
    Resident, Pediatric Residency Training Program

    513-636-4214

    harry.lesmana@cchmc.org

    DefaultUser

    Harry Lesmana, MD

    Resident, Pediatric Residency Training Program

    Phone: 513-636-4214

    Email: harry.lesmana@cchmc.org

    Show All

    Specialties

    Pediatric genetics

    Biography

    Harry Lesmana, MD, was born, raised and went to medical school in Indonesia. When he decided to come to the US, he knew that he wanted to train in a prestigious university program where most pediatric subspecialties were well represented. 

    Dr. Lesmana is also interested in medical genetics and CCHMC is well known as one of the center of excellence in this field. Having said that, there was initially a concern that he would be totally lost in this big program but after attending his interview, he was convinced that CCHMC was the right place for him. He knew that besides the superb training, the environment was very friendly and warm. There was also a strong camaraderie among residents and between residents and faculty.

    His experience as an intern has been great so far. Of course it is very challenging to move to new country and getting adapted with the health care system but he knows for sure that everyone here is more than happy to walk him through this transition period.

    Education and Training

    MD: University of Indonesia, 2009.
    DefaultUserSmall

    Stephanie L. Santoro, MD
    Resident, Pediatric Residency Training Program

    513-636-8261

    stephanie.santoro@cchmc.org

    DefaultUser

    Stephanie L. Santoro, MD

    Resident, Pediatric Residency Training Program

    Phone: 513-636-8261

    Email: stephanie.santoro@cchmc.org

    Show All

    Specialties

    Genetics

    Biography

    Stephanie Santoro, MD, chose Cincinnati Children's because it was the best. She loves the hospital and staff – going other places just didn’t feel as kid-friendly, family-centered and evidence-based.

    Education and Training

    MD: University of Cincinnati, Cincinnati, OH, 2009. 

    DefaultUserSmall

    Kathryn N. Weaver
    Resident, Human Genetics

    513-636-3740

    kathryn.weaver@cchmc.org

    Genetic Counselors

    No photo available

    Laurie Anne Bailey, LGC
    Genetic Counselor III, Division of Human Genetics

    513-636-4507

    laurie.bailey@cchmc.org

    DefaultUserSmall

    Michelle Baric, LGC
    Genetic Counselor, Division of Human Genetics

    513-803-5460

    michelle.baric@cchmc.org


    berry-lisa-thumb

    Lisa Berry, LGC
    Genetic Counselor III, Division of Human Genetics

    513-803-2102

    lisa.berry@cchmc.org

    A photo of Ashley Brazil.

    Ashley E. Brazil, LGC
    Genetic Counselor, Division of Human Genetics

    513-636-0010

    ashley.brazil@cchmc.org


    No photo available

    Kathleen Collins, LGC
    Genetic Counselor III, Division of Human Genetics

    513-803-2154

    kathleen.collins2@cchmc.org

    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 Jennifer Holle.

    Jennifer R. Holle, LGC
    Genetic Counselor, Division of Human Genetics

    513-803-1602

    jennifer.holle@cchmc.org

    DefaultUserSmall

    Jennifer Hopper, LGC
    Genetic Counselor, Division of Human Genetics

    513-803-2155

    jennifer.hopper@cchmc.org


    No photo available

    Jodie R. Johnson, LGC
    Genetic Counselor II, Division of Human Genetics

    513-803-1376

    jodie.johnson@cchmc.org

    A photo of Emily King.

    Emily J. King, LGC
    Genetic Counselor II, Division of Human Genetics

    513-803-5442

    emily.king@cchmc.org


    A photo of Bettsy Leech.

    Bettsy Leech, LGC
    Genetic Counselor II, 22Q-VCFS Center, Division of Human Genetics

    513-803-1884

    bettsy.leech@cchmc.org

    DefaultUserSmall

    Abigail N. Masunga, LGC
    Genetic Counselor, Division of Human Genetics

    513-803-4893

    abigail.masunga@cchmc.org


    A photo of Erin Mundt.

    Erin A. Mundt, LGC
    Genetic Counselor III, Division of Human Genetics

    513-636-9626

    erin.mundt@cchmc.org

    DefaultUserSmall

    Chinmayee B. Nagaraj, LGC
    Genetic Counselor, Division of Human Genetics

    513-636-6779

    chinmayee.bhimarao@cchmc.org


    DefaultUserSmall

    Krysten A. Shipley, LGC
    Genetic Counselor, Division of Human Genetics

    513-636-7604

    krysten.shipley@cchmc.org

    A photo of Christine Spaeth.

    Christine G. Spaeth, LGC
    Genetic Counselor III, Division of Human Genetics

    513-636-9861

    christine.spaeth@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

    A photo of Elizabeth Ulm.

    Elizabeth A. Ulm, LGC
    Genetic Counselor, Division of Human Genetics

    513-803-4684

    elizabeth.ulm@cchmc.org


    No photo available

    Martha E. Walker, LGC
    Genetic Counselor III, Division of Human Genetics

    513-636-4798

    Martha.Walker@cchmc.org

    No photo available

    Katie A. Wusik, LGC
    Genetic Counselor III, Division of Human Genetics

    513-636-4760

    katie.wusik@cchmc.org


    Fellows

    DefaultUserSmall

    Lisa M. Dyer, PhD
    Cytogenetics Fellow, Division of Human Genetics

    513-636-3950

    lisa.dyer@cchmc.org

    DefaultUser

    Lisa M. Dyer, PhD

    Cytogenetics Fellow, Division of Human Genetics

    Phone: 513-636-3950

    Email: lisa.dyer@cchmc.org

    Show All

    Education and Training

    PhD: University of Florida, Gainesville, FL, 2011.

    Fellowship: Cincinnati Children’s Hospital, Cincinnati, OH, 2012 - present.

    DefaultUserSmall

    Haiying Meng, PhD
    Clinical Fellow, Human Genetics

    513-636-5441

    haiying.meng@cchmc.org

    DefaultUser

    Haiying Meng , PhD

    Clinical Fellow, Human Genetics

    Phone: 513-636-5441

    Email: haiying.meng@cchmc.org


    Carlos E. Prada, MD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-8261

    Fax: 513-636-7297

    Email: carlos.prada@cchmc.org

    Clinical Nurse Specialists

    A photo of Tricia Bender.

    Tricia Bender, MSN, APRN, CNS
    Clinical Nurse Specialist, Human Genetics

    513-636-4546

    tricia.bender@cchmc.org

    A photo of Anne Lovell.

    Anne M. Lovell, RN, MSN, CPNP
    Clinical Nurse Specialist, Neurofibromatosis Center

    513-636-8826

    anne.lovell@cchmc.org

    Anne Lovell.

    Anne M. Lovell, RN, MSN, CPNP

    Clinical Nurse Specialist, Neurofibromatosis Center

    Advanced Practice Registered Nurse; Adjunct Clinical Instructor / Genetic Counseling Program, University of Cincinnati, College of Applied Health Sciences

    Phone: 513-636-8826

    Email: anne.lovell@cchmc.org

    Show All

    Specialties

    Pediatrics; neurofibromatosis; bioethics

    Education and Training

    BSN: St. Xavier College School of Nursing, Chicago, IL., 1969.

    MSN: University of Cincinnati College of Nursing and Health, Cincinnati, OH, 1989. 

    Credentials: Ohio Board of Nursing, RN and APRN certification (Clinical Nurse Specialist); National Board of Pediatric Nurse Practitioners and Nurses (NAPNAP); Nursing Child Assessment Satellite Training Programs (NCAST).

    Publications


    DefaultUserSmall

    Kim Page, MS, RD, LD
    Registered Dietitian, Nutrition Therapy and Human Genetics

    513-636-8630

    kimberley.page@cchmc.org

    A photo of Cindy Prows.

    Cynthia A. Prows, MSN, CNS
    Genetics Clinical Nurse Specialist, Division of Human Genetics

    513-636-7963

    cindy.prows@cchmc.org


    No photo available

    Connie Wehmeyer, RN
    Nurse Coordinator, Human Genetics

    513-636-1116

    connie.wehmeyer@cchmc.org