Roberta A. Pagon

Biography

• Born Roberta Vail Anderson in 1945
• Attended Brighton High School
• 1967 – Marriage to Garrett Dunn Pagon Jr taking the name Roberta A. Pagon
• 1967 – BA, Stanford University
• 1992 – Medical Director of the Helix project – online database that served as the main U.S. directory of laboratories offering genetic testing. Editor-in Chief of Genline; an electronic clinical genetics knowledge base
• 1993 – Founder of GeneReviews – international point-of-care resource providing clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
• 1996 – GeneTests (formerly Helix): Genetic Testing Resource
• 1997 – Founded GeneClinics as an expert-authored, peer-reviewed, disease-specific knowledge base relating genetic testing to patient care
• 2001 – Founder of GeneReviews (merger of GeneTests and GeneClinics) creating an international NIH-funded, peer-reviewed point-of-care resource for clinicians providing current, clinically relevant, medically actionable information on inherited conditions.
• 2006 – Award for Excellence in Genetics Education, the American Society of Human Genetics
• 2009 – March of Dimes / Colonel Harland Sanders, Life Time Achievement Award in Medical Genetics from the American College of Medical Genetics and Genomics.
• Review board coordinator for the Collaboration, Education, and Test Translation (CETT) Program, which promotes the collaborative development of new tests for rare genetic diseases for use by doctors and patients
• Professor of Pediatrics, University of Washington School of Medicine

Medical Eponyms

Pagon syndrome (1985)

[Anemia sideroblastic and spinocerebellar ataxia; ASAT; Sideroblastic anemia with spinocerebellar ataxia; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and ataxia; XLSA-A; Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia and spinocerebellar ataxia]

Major Publications

• Pagon RA, Chandler JW, Collie WR, et al. Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition. Birth Defects Orig Artic Ser. 1978;14(6B):233-241. [Walker-Warburg syndrome]
• Pagon RA, Clarren S. HARD +/- E: Warburg’s syndrome. Arch Neurol. 1981;38(1):66.
• Pagon RA, Kalina RE, Lechner DJ. Possible autosomal-recessive ocular coloboma. Am J Med Genet. 1981;9(3):189-193
• Pagon RA, Bird TD, Detter JC, Pierce I. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet. 1985;22(4):267-273. [Pagon syndrome]
• Tarczy-Hornoch P, Covington ML, Edwards J, Shannon P, Fuller S, Pagon RA. Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community. Proc AMIA Symp. 1998;341-345.
• Pagon RA, Tarczy-Hornoch P, Baskin PK, et al. GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat. 2002;19(5):501-509.

References

Biography

• Roberta A. Pagon receives lifetime award in genetics from March of Dimes. Eureka Alert. 2009
• Bibliography. Pagon, Roberta A. WorldCat Identities

Eponymous terms

• Anemia sideroblastic and spinocerebellar ataxia. GARD
• Anemia sideroblastic and spinocerebellar ataxia, ASAT. OMIM #301310