Roberta A. Pagon, M.D.

Professor of Pediatrics
Adjunct Professor of Medicine and Ophthalmology

H-415 Children's Hospital and Medical Center, CH-25
Pediatrics, Box 359300
Seattle, WA 98195

Phone: (206) 526-2056
Phone: (206) 221-4674
FAX: (206) 221-2217

Research Program:

The research interests of Dr. Pagon focus on the nosology and delineation of genetic disorders and syndromes, and the development of electronic clinical genetics information resources. Her clinical research is made possible through an extensive clinical program involving in-patient and out-patient consultations at Children’s Hospital and Regional Medical Center, the major tertiary-level pediatric hospital in the WWAMI (Washington-Wyoming-Alaska-Montana-Idaho) region, and a network of regional genetics clinics in Washington State. Genetic eye diseases and the diagnosis and management of children with ambiguous genitalia are special research interests. Dr. Pagon is interested in the information needs of medical geneticists and genetic counselors created by the discoveries of the Human Genome Project. She has developed Helix: Genetic Testing Resource, a database of genetic testing laboratories funded by the National Library of Medicine (NIH) and the Maternal Child Health Bureau (HSRA), that serves as the "yellow pages" for genetics laboratories ( With funding from the National Library of Medicine and the National Human Genome Research Institute, she is developing GeneClinics, an electronic expert-authored information resource that relates genetic testing information to the diagnosis, management and risk assessment of patients and families with inherited disorders (

Investigator: Dr. Pagon is Professor of Pediatrics and Adjunct Professor of Ophthalmology and Medicine (Medical Genetics). She is a consultant to the Regional Genetics Program of Washington State and an attending physician in the Children’s Hospital and Regional Medical Center Genetics Clinic. She is a member of the Board of Directors of The American Board of Medical Genetics (ABMG) and a member of the clinical practice committee of The American College of Medical Genetics (ACMG).

Representative Publications: