Eileen M. Shore is an American medical researcher and geneticist specializing in research of muscoskeletal disorders such as fibrodysplasia ossificans progressiva.
In 2006, Shore and Kaplan published their findings on the genetic mutation that causes FOP[5] as a paper entitled "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva".[6] The cause of the disease was traced to a single mutation in the activin A receptor, type I gene.[5]
Once the cause of the disease was identified, Shore became involved in efforts to control the disease and its symptoms. In 2016, she was coauthor on a paper that explored the efficacy of a drug on mice with the same genetic mutation. The authors concluded that the drug palovarotene showed promise in preventing heterotopic ossification, stating that there was "clear evidence for its encompassing therapeutic potential".[7]
As of 2015, Kaplan and Shore were the directors of the Center for Research in FOP and Related Disorders. They are considered the "world's foremost experts on FOP".[3]
Awards and honors
Shore has been the recipient of several awards, including:[1][8]
Orthopaedic Research and Education Foundation's Johnson and Johnson Research Award (1994)
Advances in Mineral Metabolism (AIMM) Young Investigator Award (2000)
Shore, Eileen M.; Xu, Meiqi; Feldman, George J.; Fenstermacher, David A.; Cho, Tae-Joon; Choi, In Ho; Connor, J Michael; Delai, Patricia; Glaser, David L.; Lemerrer, Martine; Morhart, Rolf; Rogers, John G.; Smith, Roger; Triffitt, James T.; Urtizberea, J Andoni; Zasloff, Michael; Brown, Matthew A.; Kaplan, Frederick S. (2006). "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". Nature Genetics. 38 (5): 525–527. doi:10.1038/ng1783. PMID16642017. S2CID41579747.
^Shore, Eileen M.; Xu, Meiqi; Feldman, George J.; Fenstermacher, David A.; Cho, Tae-Joon; Choi, In Ho; Connor, J Michael; Delai, Patricia; Glaser, David L.; Lemerrer, Martine; Morhart, Rolf; Rogers, John G.; Smith, Roger; Triffitt, James T.; Urtizberea, J Andoni; Zasloff, Michael; Brown, Matthew A.; Kaplan, Frederick S. (2006). "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". Nature Genetics. 38 (5): 525–527. doi:10.1038/ng1783. PMID16642017. S2CID41579747.