Rising researcher receives $444K NIH grant to study genetics behind facial development

CLEMSON, South Carolina – Clemson University researcher Kara Powder has been awarded a $444,464 R15 grant by the National Institutes of Health for her research into the genetics behind facial development that could aid in the fight against birth defects.

Powder studies cichlid fishes, which have evolved with different basic facial structures depending on their feeding habits.

“One important thing about facial development is that the genes and mechanisms that control fish facial development are the same genes that control human facial development. So if we can understand the general process of making a different-looking face using cichlids, we can apply that knowledge to humans,” said Powder, an assistant professor in the College of Science’s department of biological sciences. “For humans, maybe that facial variability is within a normal range, or maybe it’s getting into variation that we might call a rare condition or disease. And craniofacial development has a lot of things that change. Craniofacial abnormalities are one of the most-common birth defects.”

Cichlids are ideal subjects because the fish are similar to humans when it comes to facial development.

“It’s not that a fish has fish genes and we have human genes. We’re using the same genes in slightly different ways. Even more, with cichlid fishes, there’s a continuous spectrum of variation primarily between two morphologies – long face versus short,” said Powder, who is also a recent recipient of a $1.17 million National Science Foundation CAREER award grant. “That’s really similar to what we see in humans. Most of us fall within continuous facial variation. We might have more-pronounced cheekbones or brows, but if you line up all humans, we all kind of blur together into a continuous spectrum.”

Powder’s research examines how changes in this DNA packaging, or epigenetics, can produce species-specific facial variations using essentially the same genetic building blocks.

“Our DNA is not all open DNA that anything can bind to. If it was, your DNA would never be able to fit within a single cell. It’s highly packaged within the cells,” Powder said. “DNA is wound around proteins and packed in. Think about if you take a piece of rope and you twist it and keep twisting it until it folds back on itself and gets really compact.”

DNA packaging controls how genes get turned on during development. If DNA is highly packaged – really tightly wound – the proteins that turn on gene expression and make the products of genes can never have access.

One aim of the grant, Powder said, will be to study pharmacological agents that affect proteins related to the packaging. These drugs are in clinical trials and prescribed for conditions from cancer to heart disease. Powder’s group will attempt to determine if these drugs might serve as a potential source of facial malformations if prescribed to pregnant women. Further, Powder hopes to look at how these drugs might affect one species of cichlids but not others.

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This R15 grant includes funding for undergraduate students to be involved in the study. It was issued by the Institute of Dental and Craniofacial Research, a division of the National Institutes of Health, under award number 1R15DE029945-01. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.