PhD Student, Cell and Molecular Biology Graduate Group, DSRB Program
University of Pennsylvania
B.S. Biology, 2011, Furman University, Greenville, SC
I investigate development of skeletal joints using a mouse model of fibrodysplasia ossificans progressiva (FOP), a human genetic condition resulting in progressive heterotopic ossification within muscle tissue and a 100% penetrant malformation of the great toe, with a lesser incidence and lesser severity of malformation in the thumb or any other digits. FOP results from a gain-of-function mutation in Acvr1, a gene encoding the type 1 BMP receptor Alk2. Bone morphogenetic protein (BMP) is one among several interacting proteins critical to the normal development of the vertebrate limb and needs to be inhibited at sites of joint formation. My work focuses on the molecular interactions leading to FOP toe dysmorphology and the cellular and physiological consequences of dysregulated BMP signaling in the skeleton in general.
Towler, O.W., E.M. Shore, M. Xu, A. Bamford, I. Anderson, R.J. Pignolo, and F.S. Kaplan (2017). The Congenital Great Toe Malformation of Fibrodysplasia Ossificans Progressiva? - A Close Call. Eur. J. Med. Genet. 60, 399-402.
Guvec, Z., V. Tasic, D.Plaseska-Karanfilska, M. Dimishkovska, N. Laban, Z. Bozinovski, M. Kostovski, A. Saveski, M. Polenakovic, W. Towler, E.M. Shore, F.S. Kaplan (2019). Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva. Amer. J. Med. Genet. A online published April 22, 2019.
Kaplan, F.S., Towler, O.W., and Shore, E.M. (2016). ACVR1 and fibrodysplasia ossificans progressiva. Epstein’s Inborn Errors of Development: The Molecular Basis of Clinical Disorders (3rd ed.), Chapter 56. R.P. Erickson and A.J. Wynshaw-Boris, Editors. Oxford University Press
Convente, M.R., O.W. Towler, A.K. Stanley, N.S. Brewer, R.S. Allen, F.S. Kaplan, and E.M. Shore (2018). Fibrodysplasia (Myositis) Ossificans Progressiva, Chapter 30. Genetics of Bone Biology and Skeletal Disease, 2nd Edition. Chapter 30, pp. 523-545. Editors: R.V. Thakker, M.P. Whyte, J.A. Eisman, and T. Igarashi
Towler, O.W., Kaplan, F.S., and Shore, E.M. Acvr1 contributes to patterning the joint space during embryonic development. Cell and Molecular Biology Graduate Group Symposium, University of Pennsylvania, October 2016, Philadelphia, PA.
Towler, O.W., Kaplan, F.S., and Shore, E.M. The role of Acvr1 in digit patterning and limb formation. The 13th Annual International Limb Development Conference, 2015, St. Petersburg, FL.
Towler, O.W, Kaplan, F.S., and Shore, E.M. The role of Acvr1 in digit patterning and limb formation. Cell and Molecular Biology Graduate Group Symposium, University of Pennsylvania, November 2014, Philadelphia, PA.