Graduate Student in Cell and Molecular Biology, DSRB Program
University of Pennsylvania
Hometown: King George, Virginia
Education: B.S. Biology, 2011, Furman University, Greenville, SC
Areas of Special Interest: Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease caused by an activating mutation in the ACVR1 gene, which encodes Alk2, a BMP type I receptor. This results in the formation of heterotopic bone throughout life, as well as highly penetrant developmental defects, including fused cervical vertebrae, costovertebral malformations, and a consistently malformed great toe. My primary work is to determine the alterations in signaling pathways between FOP and wild-type mice, between the forelimb and hindlimb and between the first digit and others, that lead to malformations specifically of the great toe.
My secondary project is to investigate embryonic developmental defects caused by the ACVR1 mutation that lead to lethality 36 hours of birth in mice with the mutation. This severe murine phenotype may reveal less prominent symptoms of FOP in human patients that compromise their health.