PhD Student, Cell and Molecular Biology Graduate Group, DSRB Program, University of Pennsylvania
Hometown: Culpepper, Virginia
Education: B.S. Biology, 2011, Furman University, Greenville, SC
Special Interests: The hindlimb and forelimb are serially homologous biological structures with vastly similar developmental programs, yet a few distinctive adult morphologies. Early signaling events in the developing limb dictate its final morphology, such as the opposable first digit (thumb), the lengths of digits, etc. These events include multiple interacting pathways of morphogens, each with multiple functions that are executed in largely two, but often three, spatial dimensions, in addition to their activity over time. Further, many of these pathways occur in either distinct or subtle gradients. Altogether, these necessitate a means of reliably measuring small differences in these gradients in all four dimensions. Thus, my research focuses on various methods of investigating limb-specific signaling activity in the early mouse embryo.
I use 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; thus, by investigating Alk2's role in early limb development and how it drives a limb-specific phenotype in mice and humans with FOP, we may gain insight into the normal development of limb-specific features and morphologies as well as understand effects of the ACVR1 mutation on skeletal and joint formation in FOP patients.
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.