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Johns Hopkins Children's Center

Pediatric Genetic Medicine

The McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine at Johns Hopkins discovers and translates the marvels of genetics into treatments and cures for children and adults. With diverse clinical and research interests, genetics faculty diagnose and care for patients in an array of specialized medical genetics clinics throughout Johns Hopkins.

Our Team

  • Joann Norma Bodurtha, M.D., M.P.H.

    • Professor of Genetic Medicine
    • Professor of Oncology
    • Professor of Pediatrics

    Expertise: Dysmorphology, Genetics and Inherited Diseases, Pediatrics

  • Garry R Cutting, M.D.

    • Aetna/U.S. Healthcare Professor of Medical Genetics
    • Director, Postdoctoral Clinical Genetics Fellowship Programs
    • Preceptor, Predoctoral Training Program in Human Genetics
    • Director, DNA Diagnostic Laboratory
    • Director, Genetic Translational Technology Core
    • Director, Medical Genetics Training Program
    • Professor of Genetic Medicine
    • Professor of Pediatrics

    Expertise: Cystic Fibrosis, Genetics, Medical Genetics

  • Harry C Dietz III, M.D.

    • Investigator, Howard Hughes Medical Institute
    • Victor A. McKusick Professor of Medicine and Genetics
    • Professor of Genetic Medicine
    • Assistant Professor of Neurosurgery
    • Associate Professor of Medicine
    • Joint Appointment in Molecular Biology and Genetics
    • Professor of Pediatrics

    Expertise: Aortic Aneurysms, Cardiology, Marfan Syndrome, Medical Genetics, Pediatric Cardiology

  • Meral Gunay-Aygun, M.D.

    • Professor of Genetic Medicine
    • Professor of Pediatrics

    Expertise: Alstrom Syndrome, Ciliopathies, Clinical Genetics, Congenital Hepatic Fibrosis, Genetics and Inherited Diseases

  • Ada Hamosh, M.D., M.P.H.

    • Dr. Frank V. Sutland Professor of Pediatric Genetics
    • Professor of Genetic Medicine
    • Professor of Pediatrics

    Expertise: Genetics, Genetics and Inherited Diseases, Medical Genetics, Medical Genetics-Inherited Disorders

  • Julie Elizabeth Hoover-Fong, M.D., Ph.D.

    • Director, Greenberg Center for Skeletal Dysplasias
    • Professor of Genetic Medicine
    • Professor of Pediatrics

    Expertise: Achondroplasia, Genetics, Medical Genetics, Skeletal Dysplasias

  • Gregg L. Semenza, M.D., Ph.D.

    • Director, Vascular Program, Institute for Cell Engineering
    • Professor of Genetic Medicine
    • Professor of Biological Chemistry
    • Professor of Medicine
    • Professor of Oncology
    • Professor of Pediatrics
    • Professor of Radiation Oncology and Molecular Radiation Sciences

  • Nara Lygia De Macena Sobreira, M.D., Ph.D.

    • Associate Professor of Genetic Medicine
    • Associate Professor of Pediatrics

  • Tao Wang, M.D., Ph.D., M.Sc.

    • Associate Director, Medical Genetics Residency and Fellowship Program
    • Associate Professor of Genetic Medicine
    • Associate Professor of Pediatrics

    Expertise: Medical Genetics

Conditions We Treat

Approximately 1 in 10 people have a rare, genetic condition. Our experts in the Pediatric and Adult Genetics Clinic work with you to determine a diagnosis and treatment plan to help you best manage your genetic condition.

Teams of genetic counselors and physicians who are among the world’s experts in genetic conditions provide these services to adults and children who have genetic conditions including:

  • Abnormal newborn screening results
  • Birth defects
  • Craniofacial disorders  
  • Chromosome anomalies
  • Connective tissue disorders
  • Craniosynostosis

  • Dysplasia  
  • Hirschsprung’s disease
  • Hypotonia    
  • Inborn errors of metabolism
  • Lysosomal storage disease cleft and craniofacial
  • Marfan syndrome   
  • Skeletal dysplasias

Additional Specialty Clinics

Additional pediatric genetic specialty clinics located outside the Institute of Genetic Medicine but within Johns Hopkins University, including the Hopkins Children’s Center and the Kennedy Krieger Institute, provide care for:

Programs and Centers

Genetic Programs

  • Medical Genetics Residency Program
  • Combined Training in Pediatrics and Genetics
  • Clinical Resources

Genetics Centers

  • Center for Craniofacial Development and Disorders  
  • Chromosomal Clinic
  • Greenberg Center for Skeletal Dysplasias
  • Smilow Center for Connective Tissue Disorders

Contact Us

Johns Hopkins Institute of Genetic Medicine
733 N Broadway
Broadway Research Building
Baltimore, MD 21287
Phone: 410-955-3071
Fax: 410-614-9246

To make a clinical appointment in the pediatric genetics clinic, call 410-955-3071.