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.

Faculty/Professional Staff

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 professionalsabout 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

Research Facilities

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

Patient Care

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 genetic disorders

Educational Activities

Educate and train genetic counseling students, medical students, residents, doctoral students and postdoctoral fellows.
Provide education to other institutions and training programs, support groups and to the public
Participate in the accredited Master's in Genetic Counseling Training Program, and the Epidemiology and Human Genetics Graduate Program.
Provide educational grand rounds and teaching at local, regional, and national institutions

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)