Seeking a better understanding of how genetic mutations lead to developmental disorders

Chelsea M. Phillips’ academic journey has led her to study molecular biology across the body’s organs and systems. In joining the Fralin Biomedical Research Institute at VTC this summer, however, she shifted her focus to new techniques, and from the biology of the brain to the biology of the heart. 

Phillips will be supported in her research with an inaugural postdoctoral excellence award from the Fralin Biomedical Research Institute. 

The proposed research represents an investigation into novel mechanisms underlying the physiological impact of GJA1 mutations. The GJA1 gene encodes a protein named connexin 43 that makes gap junctions, which facilitate communication between cells. They are found throughout the body.

Their important roles are demonstrated through the breadth of pathologies their disruption is associated with, from cardiac arrhythmia to cancer progression as well as developmental disorders. With such important roles across tissues, mutations in GJA1 are rare, but when they occur, a variety of genetic disorders result, typically impacting skin, hearing, neurological and cardiac function.

“The impact of this work is broad,” said James Smyth, her mentor on the project and an associate professor at the Fralin Biomedical Research Institute and Virginia Tech Department of Biological Sciences. He notes that the results could potentially lead scientists to rethink mechanisms of genetic disorders looking to changes in protein synthesis rather than protein sequence alone.

Phillips earned her undergraduate degree in biology from Indiana Wesleyan University and a doctoral degree in neuroscience from the University of Michigan. Smyth began recruiting Phillips to Roanoke a year ago, after she presented some of her doctoral work at the International Gap Junction Conference in Coruña, Spain. “Phillips impressed me with her knowledge of the field, and I was happy that she applied for a postdoctoral position with my team.”

The award, combined with the mentoring and facilities available at the institute, will help Phillips expand her skills in super-resolution microscopy and extend her already considerable experience studying the gap junction protein connexin 43.

This marks the first year of the Fralin Biomedical Research Institute Postdoctoral Excellence Awards, which were established through the generosity of Mary Denton Roberts and David Lyerly. The awards recognize the potential for impactful individual scientific contributions. Recipients are selected based on the likelihood that their research proposal will lead to novel contributions as well as their mentors' ability to enhance their professional development.

Current or prospective postdoctoral scholars are eligible for the awards. Scholars must identify a timeline to apply for an external fellowship to support their work at the institute as part of the application.

Roberts taught microbiology and immunology at Radford University from 1980 to 2006.

Lyerly is a co-founder and chief science officer of the Blacksburg-based medical diagnostics company TechLab Inc. He and colleague Tracy Wilkins founded the company in 1989, based on discoveries from their research on Clostridium difficile, the major cause of hospital-acquired diarrhea and colitis.