Samantha A. Brugmann, PhD

I am a developmental biologist studying craniofacial development and disease. The long-term goal of my research is to help children with craniofacial anomalies by generating tissue amenable for surgical repair. To achieve this goal, my lab specifically focuses on the role of a cellular organelle (the primary cilium) during craniofacial development and the craniofacial anomalies that arise when the cilium do not function properly (ciliopathies).

Projects in my lab utilize avian, murine and human-induced pluripotent stem cells to gain a better understanding of the molecular mechanisms associated with craniofacial anomalies.

My lab has uncovered the genetic cause of an avian mutant line called talpid2. Our work determined that the talpid2 was caused by a mutation in the protein coding gene C2 Domain Containing 3 Centriole Elongation Regulator (C2cd3) and, as such, could serve as a bona fide animal model for the human ciliopathic disorder orofacial-digital-syndrome (OFD). This discovery has allowed for novel experimentation of molecular mechanisms and treatment options for children with OFD.

In addition to using existing animal models to understand human craniofacial disorders, we are also sequencing patients and generating cell-based models to uncover novel genetic causes for craniofacial ciliopathies.

For my work, I was recognized with the 2013 Presidential Early Career Award for Science and Engineering. This award is the highest honor given by the United States government to outstanding scientists and engineers who are beginning their independent research careers and show exceptional promise for leadership in science and technology. In 2017, I received a Sustaining Outstanding Achievement in Research (SOAR) grant award from the National Institutes of Health. This grant allows mid-career investigators with outstanding productivity to have stable funding as they pursue potentially transformative research programs.