Assistant Professor of Biology Cindy Thomas-Charles has received the American Society of Human Genetics’ Human Genetics and Genomics Advances Award for Outstanding Early Career Publication. The award recognizes her research exploring how gene-editing technology could help scientists better understand and potentially treat rare genetic conditions.
Thomas-Charles and her research team, which included five undergraduate students, studied a rare change in the GDF11 gene identified through the Undiagnosed Diseases Network. Using human cells, the team examined how the genetic change affected cell function and tested a newer gene-editing technology called prime editing, which allows scientists to make precise changes to DNA.
The researchers found that the mutation reduced the production of a normal protein and disrupted several cell functions. They also developed a gene-editing approach that successfully corrected the mutation in human cells. Thomas-Charles said the recognition was an honor, highlighting both the scientific importance of the research and its potential to advance the study of rare genetic conditions.