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Division of Human Genetics

Our team of medical geneticists, including physicians, laboratory specialists and genetic counselors, provides a full range of genetic services to patients of all ages, their families and health care providers. Services are available to patients and families when a genetic cause or contribution to medical or neurodevelopmental problems is known or suspected, including inborn errors of metabolism, chromosomal disorders, genetic syndromes and genetic contribution to common/complex disease that may present at any age. We provide genetic diagnostic evaluation, clinical monitoring, treatment and management, and genetic counseling in both the inpatient and outpatient settings. Board-certified clinical geneticists and laboratory geneticists are on call at all times.

The Division faculty members serve as national leaders in education in genetics and genetic professional organizations. Currently, Miriam Blitzer, PhD, is the Executive Director of the American Board of Medical Genetics and 2011-2012 President of the Professors of Human Genetics. Carol Greene, MD, is President of the Society for Inherited Metabolic Disorders (2011-2013), and Shannan Dixon, MS, CGC, is currently serving as treasurer of the Association of Genetic Counseling Program Directors and is on the board of directors of the National Society of Genetic Counselors. Our faculty and trainees are active in clinical research in medical genetics and serve on committees of professional organizations. 

Clinical Services and Areas of Expertise

  • Pediatric Genetics
  • Newborn screening follow-up
  • Adult Genetics
  • General genetics and dysmorphology
  • Inborn errors of metabolism, including mitochondrial disorders
  • Cardiovascular Genetics Clinics (Pediatric and Adult)
  • Hearing Impairment and Craniofacial Genetics Service
  • Huntington and other Neurodegenerative disorders genetics services
  • Cancer genetics
  • Risk assessment and genetic counseling (for single gene conditions and for common complex disorders such as diabetes, autism, mental illness, etc)
  • Prenatal evaluation and management for genetics disorders
  • Biochemical genetics laboratory - includes testing for amino acids, organic acids, metabolites, sweat testing, and selected enzyme assays; on-call faculty and technical staff for emergencies
  • Cytogenetics laboratory – broad service laboratory with focus on constitutional and cancer cytogenetics; on call faculty and technical staff for emergencies

Educational Activities

Research activities

  • Best methods in education of the public and patients/families about medical genetics and communication of genetic information
  • Education and training for health care professionals about genetic cause and contribution to disease and genomic medicine
  • Newborn screening
  • Intersection of genetics and the medical home
  • Recognition of genetic contribution to human disease
  • Quality assurance in genetic testing
  • Transition from pediatric to adult care with complex genetic conditions

Faculty/Professional Staff

Contact Information

Division of Human Genetics
University of Maryland School of Medicine
655 W. Baltimore Street, Room 11-037
Baltimore, MD 21201
410-706-3480 (academic office) 410-706-6105 (fax)
410-328-3335 (clinical program) 410-328-5484 (fax)
410-328-6749 (appointments)
genetics@peds.umaryland.edu 

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