The Center for Molecular and Human Genetic's mission is to unite basic, translational, and clinical investigators in order to stimulate leading edge research on childhood diseases. Our central themes of research are focused on developmental processes and genetic variations involved in congenital and inherited disease.
Employing the newest technologies in the post-genome era, Center faculty collaborate with clinicians from divisions including Molecular and Human Genetics; Gastroenterology, Hepatology and Nutrition; and Nephrology.
The Center runs two core resources: Cell Line Core and the Transgenic and Embryonic Stem Cell Core.
Center for Molecular and Human Genetics faculty investigate normal developmental processes and the pathogenesis of compmlex disorders such as:
Carlos Alvarez, PhD
DNA Copy Number Variation, National Institutes of Health, National Human Genome Research Institute
John A. Barnard, MD
Nationwide Children’s Hospital Capital Equipment, Ohio State University Research Foundation, Ohio Board of Regents
NICHD Institutional Training for Pediatricians (T32), National Institutes of Health, National Institute of Child Health & Human Development
TGF-beta Regulation of Intestinal Epithelial Cells (RA Supplement), National Institutes of Health, National Institute of Diabetes & Digestive & Kidney Diseases
OSU Center for Clinical and Translational Science Award, Ohio State University Research Foundation, National Institutes of Health, National Center for Research Resources
Gail E. Herman, MD, PhD
Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes, Air Force Medical Service, Department of Defense
Genetic Analysis of the Microenvironment in Breast Tumor Progression, Ohio State University Research Foundation/National Institutes of Health
Molecular Studies of X-linked Chondrodysplasia Punctata, National Institute of Child Health and Human Development
Kim L. McBride, MD
Genome Wide Association Study of Hypoplastic Left Heart and Related Defects, Baylor College of Medicine, National Institutes of Health
An open-label study to evaluate the safety and population pharmacokinetics of Kuvan (tetrahydrobiopterin) and its effects on neurocognitive function and blood PHE levels in young children with phenylketonuria, Anonymous
Kirk McHugh, PhD
Model of Congenital Obstructive Nephropathy-Biomarker & Therapeutic Development, National Institutes of Health, National Institute of Diabetes & Digestive & Kidney Diseases
K. John McLaughlin, PhD
Liver Regeneration with Stem Cells of Uniparental Origin, National Institutes of Health, National Institute of Diabetes & Digestive & Kidney Diseases
CCC Transgenic Facility, Ohio State University Research Foundation, National Institutes of Health, National Cancer Institute
Christopher J. Phiel, PhD
Effects of conditional GSK3 knockout on the pathogenesis of Alzheimer’s disease, National Institutes of Health, National Institute on Aging
Chack-Yung Yu, D.Phil
Complement Genetics & Clinical Variability of Systemic Lupus Erythematosus, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases
Patient-Derived Embryonic Stem Cells Help Deliver “Good Genes” in a Model of Inherited Blood Disorder
Researchers at Nationwide Children’s Hospital report a gene therapy strategy that improves the condition of a mouse model of an inherited blood disorder, Beta Thalassemia. The gene correction involves using unfertilized eggs from afflicted mice to produce a batch of embryonic stem cell lines. Patient-Derived Embryonic Stem Cells Help Deliver “Good Genes” in a Model of Inherited Blood Disorder
Could Mothers’ Low Cholesterol Affect Pregnancy?
A study appearing in Human Molecular Genetics is one of the first to suggest that low maternal cholesterol could have an impact on pregnancy, possibly reducing the size of the placenta. Could Mothers’ Low Cholesterol Affect Pregnancy?
Hormone Plays Role in Fetal Alcohol Syndrome
A hormone most commonly known for its role in aiding digestion may also help protect the developing brain from the negative effects of alcohol. Hormone Plays Role in Fetal Alcohol Syndrome
Genetics of Heart Defects
Research conducted by Dr. McBride and colleagues reveals, for the first time, a common molecular mechanism for aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome. Genetics of Heart Defects
Studies Help Confirm Mutations Related to Autism Spectrum Disorders
Research from Nationwide Children’s Hospital is providing clues to the genetic elements of autism spectrum disorders with findings that could play an important role in genetic counseling. Studies Help Confirm Mutations Related to Autism Spectrum Disorders
Program provides early access to drugs for kids with a rare genetic metabolic disorder. PKU Expanded Access Program