Gail E. Herman, MD, PhD :: Nationwide Children’s Hospital, Columbus, Ohio

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Gail E. Herman, MD, PhD

Gail E. Herman, MD, PhD Best Doctors 2011-2012

Center for Molecular and Human Genetics
Principal Investigator

Genetics (CardioGenetics)
Member

Genetics (Molecular and Human)
Physician Team

Contact Information

Wexner Center
700 Children's Dr
Columbus, OH 43205 [ map ]
PH: (614) 722-3538
FX: (614) 722-2817
E-mail Me
The Research Institute at Nationwide Children's Hospital
Columbus, OH 43205 [ map ]
PH: (614) 355-3483
FX: (614) 722-2817

Office Practice Information:

  • Accepts patients 0-18.
  • Accepts patients 18 years or older.
  • Accepts Medicaid.
  • Provides prenatal visits for expecting parents.
  • This office is wheelchair accessible.

Biography

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Gail E. Herman, MD, PhD, is a member of the Section of Molecular and Human Genetics at Nationwide Children's Hospital, and the Center for Molecular and Human Genetics in The Research Institute at Nationwide Children's Hospital. She is a Professor in the Department of Pediatrics with a secondary appointment in the Department of Molecular Virology, Immunology and Medical Genetics at The Ohio State University College of Medicine. She received her medical degree and a PhD in biochemistry from Duke University and completed a residency in pediatrics and a fellowship in genetics at Baylor College of Medicine. She is board-certified in pediatrics and clinical and biochemical genetics. Her research focuses on X-linked developmental disorders. Current National Institutes of Health (NIH)-funded research focuses on mouse models for cholesterol biosynthesis disorders. A new research focus involves translational work with the development of the Central Ohio Registry for Autism (CORA) and genetics evaluation of children with autism funded through the Department of Defense. Dr. Herman serves on the Department of Pediatrics promotion and tenure committee and is President-Elect of the American College of Medical Genetics.

View CV »

Gender:

  • Female

Languages Spoken:

  • English

Research Interests

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Research Center:

Areas of Interest:

  • Our laboratory uses genetic approaches to try to understand the basis for selected single gene and more complex human developmental disorders. In 1999, we discovered that the X-linked, male lethal mouse mutants bare patches (Bpa) and tattered (Td) were associated with mutations in the genes Nsdhl and Ebp, encoding sequential enzymes in cholesterol biosynthesis. Subsequently, we and others identified mutations in the orthologous human genes in CHILD syndrome and X-linked dominant chondrodysplasia punctata, respectively. All of these disorders produce skeletal, skin, CNS, and eye abnormalities in surviving females and are among 6 known disorders of sterol biosynthesis. The most common of the human cholesterol biosynthesis disorders, Smith-Lemli-Opitz syndrome, causes hypotonia, failure to thrive, major malformations, and mental retardation. It has the highest incidence of autism (>50%) for any known single gene disorder. Recently, several males with mental retardation and non-mosaic mutations in EBP or NSDHL have been identified, suggesting that the spectrum of phenotypes associated with defects in these genes is broader than originally thought, and that these enzymes play critical functions in the developing CNS. Since male mouse embryos with Nsdhl mutations die prenatally, we generated a conditional targeted Nsdhl allele in embryonic stem cells using Cre-lox technology. This conditional allele reproduces the null phenotype of the original Bpa mutation. Inactivation of the conditional allele in the embryonic mouse brain beginning at ~E13.5 produces a dramatic and novel cerebellar phenotype with reduced granule cell proliferation and deficient hedgehog signaling. We are currently exploring the effects of inactivation with different Cre lines to produce later-onset behavioral phenotypes in our mice. In a second translational project, we have a large multisite collaboration with Dr. Wolfgang Sadee at The Ohio State University and clinicians at Dayton Children’s Medical Center and Wright Patterson Air Force Base that is funded through the Department of Defense to develop a registry for families in central Ohio with children with autism spectrum disorders (ASDs). Over 200 families have been enrolled, with detailed demographic, genetic, and medical information on each. Through the registry and clinical genetics evaluations of children with autism, we have developed guidelines for genetic testing for newly diagnosed patients, including the sequencing of the PTEN tumor suppressor gene in patients with autism or developmental delay and macrocephaly. We are performing whole exome sequencing on selected registry families to identify de novo pathogenic variants, as well as second site modifiers in children with an identifiable primary mutation. In collaboration with Dr. Sadee, we are performing association studies in trios in our registry using polymorphic functional variants identified by Dr. Sadee in genes involved in relevant neurotransmitter pathways.

Research Funding*:

  • Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes, Air Force Medical Service/Department of Defense
  • The Nsdhl deficient mouse as a model to examine the role of cholesterol in autism pathogenesis, Marci and Bill Ingram Comprehensive Center for Autism Spectrum Disorders
  • Molecular Studies of X-linked Chondrodysplasia Punctata, National Institute of Child Health & Human Development

Education and Training

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Undergraduate

  • Smith College
    Date Completed: 06/30/1973

Medical School

  • Duke University
    Date Completed: 09/30/1981

Graduate School

  • Duke University
    Date Completed: 09/30/1981

Fellowship

  • University of North Carolina
    Date Completed: 05/31/1982

Residency

  • Baylor College of Medicine
    Date Completed: 06/30/1985

Fellowship

  • Baylor College of Medicine
    Date Completed: 06/30/1988

Department:

  • Pediatrics

Section:

  • Molecular & Human Genetics

Speciality:

  • Biochemical/Molecular Genetics, Certified
  • Clinical Genetics, Certified
  • Pediatrics, Certified

Date of Appointment at Children's Hospital:

  • 06/17/1997

Professional Experience

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2001–present

  • Principal Investigator, Center for Molecular & Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio

2000–present

  • Professor, Department of Pediatrics, The Ohio State University, Columbus, Ohio

1997–2000

  • Associate Professor, Division of Molecular and Human Genetics, Department of Pediatrics, The Ohio State University, Columbus, Ohio

1993–1996

  • Associate Professor, Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine, Houston, Texas

1988–1993

  • Assistant Professor, Institute for Molecuar Genetics and Department of Pediatrics, Baylor College of Medicine, Houston, Texas

1985–1988

  • Fellow, Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas

1982–1985

  • Resident in Pediatrics, Baylor College of Medicine, Houston, Texas

1981–1982

  • Clinical Fellow in Division of Genetics, Department of Pediatrics, University of North Carolina at Chapel Hill

1975–1980

  • Ph.D. thesis, Duke University - Advisor, Dr. Paul Modrich.  "Studies on the Structure, Mechanism, and Biological role of the E. coli dam Methylase."

Publications

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Awards, Honors and Organizations

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  • President-elect, American College of Medical Genetics, 2011-present
  • Contributing Member, Faculty of 1000, Section of Medical Genetics, 2012-present
  • Regular member, NIH Genome Study Section, 1994-1997
  • Member, The Jackson Laboratory Informatics Scientific Advisory Board, 2012-present
  • Regular member, NIH Mammalian Genetics Study Section, 2002-2004
  • Listed, Best Doctors in American, 1996-present
  • Chair, NIH Genetics of Health and Disease Study Section, 2004-2006
Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000