Roberta A. Pagon (1945 – ) pediatrician and geneticist.
Founder of numerous innovative online genetics knowledge base projects providing medically actionable information on inherited conditions. These databases evolved over time culminating in the merger of GeneTests and GeneClinics as the peer-reviewed point-of-care resource for clinicians GeneReviews.
Her clinical interests include syndrome identification, inherited eye disorders, and disorders of sex differentiation. Eponymously remembered for her description of Pagon syndrome in 1985
- 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
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]
- 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.
- Roberta A. Pagon receives lifetime award in genetics from March of Dimes. Eureka Alert. 2009
- Bibliography. Pagon, Roberta A. WorldCat Identities
- Anemia sideroblastic and spinocerebellar ataxia. GARD
- Anemia sideroblastic and spinocerebellar ataxia, ASAT. OMIM #301310
the person behind the name