Clair Francomano

Clair Ann Francomano was born to Mrs. and Charles J. Francomano, a general practitioner.[2][3] She attended Roosevelt High School in Yonkers, New York and participated in programs at the National Institutes of Health and the Jackson Laboratory in Bar Harbor, Maine as a high school student.[3] She earned her undergraduate degree from Yale College in 1976,[1] having returned as an undergraduate to the Jackson Laboratory to study cancer genetics on a National Science Foundation grant in 1973.[3] She then earned her M.D. from Johns Hopkins School of Medicine in 1980.[1] She trained at Hopkins in internal medicine and medical genetics.[1]

Francomano joined the faculty of Johns Hopkins University in 1984.[1] In 1994, she moved to the National Institutes of Health to become chief of the Medical Genetics Branch at the National Human Genome Research Institute; from 1996 to 2001 she was its clinical director.[4][1] From 2001 to 2005 she was Chief of the Human Genetics and Integrative Medicine Section in the Laboratory of Genetics, National Institute on Aging.[1] While at NIH, she launched a natural history study of Ehlers–Danlos syndromes that lasted for more than two decades.[1] She also worked on the Human Genome Project.[5]

In 2005, Francomano became director of adult genetics for the Harvey Institute of Human Genetics of the Greater Baltimore Medical Center.[6][7] She later became director of its Ehlers-Danlos National Foundation Center for Clinical Care and Research.[1][4]

Francomano has been a member of the Steering Committee for the International Consortium on the Ehlers-Danlos Syndromes and Related Conditions.[1] Since 2016, she has chaired the Consortium’s Committee on Classical Ehlers-Danlos Syndrome.[1]

In 2019 she joined Indiana University as professor of medical and molecular genetics at the School of Medicine and director of the Residency Training Program in Genetics.[1]

• Dietz, Harry C.; Cutting, Carry R.; Pyeritz, Reed E.; Maslen, Cheryl L.; Sakai, Lynn Y.; Corson, Glen M.; Puffenberger, Erik G.; Hamosh, Ada; Nanthakumar, Elizabeth J.; Curristin, Sheila M.; Stetten, Gail; Meyers, Deborah A.; Francomano, Clair A. (July 1991). "Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene". Nature. 352 (6333): 337–339. Bibcode:1991Natur.352..337D. doi:10.1038/352337a0. ISSN 1476-4687. PMID 1852208. S2CID 4252445.
• Schwindinger, W. F.; Francomano, C. A.; Levine, M. A. (1 June 1992). "Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome". Proceedings of the National Academy of Sciences. 89 (11): 5152–5156. Bibcode:1992PNAS...89.5152S. doi:10.1073/pnas.89.11.5152. ISSN 0027-8424. PMC 49247. PMID 1594625.
• Bellus, G A; Hefferon, T W; Ortiz de Luna, R I; Hecht, J T; Horton, W A; Machado, M; Kaitila, I; McIntosh, I; Francomano, C A (February 1995). "Achondroplasia is defined by recurrent G380R mutations of FGFR3". American Journal of Human Genetics. 56 (2): 368–373. ISSN 0002-9297. PMC 1801129. PMID 7847369.
• Bellus, Gary A.; McIntosh, Iain; Smith, E. Anne; Aylsworth, Arthur S.; Kaitila, Ilkka; Horton, William A.; Greenhaw, Giselle A.; Hecht, Jacqueline T.; Francomano, Clair A. (July 1995). "A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia". Nature Genetics. 10 (3): 357–359. doi:10.1038/ng0795-357. ISSN 1546-1718. PMID 7670477. S2CID 22560890.
• Fried, Linda P.; Francomano, Clair A.; MacDonald, Susan M.; Wagner, Elizabeth M.; Stokes, Emma J.; Carbone, Kathryn M.; Bias, Wilma B.; Newman, Mary M.; Stobo, John D. (18 September 1996). "Career Development for Women in Academic Medicine: Multiple Interventions in a Department of Medicine". JAMA. 276 (11): 898–905. doi:10.1001/jama.1996.03540110052031. ISSN 0098-7484. PMID 8782639.
• Vajo, Zoltan; Francomano, Clair A.; Wilkin, Douglas J. (1 February 2000). "The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*". Endocrine Reviews. 21 (1): 23–39. doi:10.1210/edrv.21.1.0387. PMID 10696568. S2CID 43581040.