UHart Biology Professor Receives Award for Genetic Research

The Human Genetics and Genomics Advances Award was given for Outstanding Early Career Publication.

Thomas-Charles and her research team, which included five undergraduate students, investigated a rare mutation in the GDF11 gene identified through the Undiagnosed Diseases Network. Using human cells, the researchers studied the mutation's effects and tested a newer CRISPR technology, called prime editing, to repair the altered DNA.

The team found that the mutation reduced production of normal GDF11 protein and caused several cellular abnormalities. Researchers then identified a prime-editing strategy that successfully corrected the mutation in human cells.

"Being recognized by the American Society of Human Genetics is an incredible honor, particularly because this award recognizes both the scientific contribution of the work and its potential impact on the field," says Thomas-Charles.

To explain the research, she compares DNA to an instruction manual. "Imagine that one letter in an important set of instructions has been changed. That one mistake can cause the final product to be made incorrectly and can affect many other things inside the cell," she explains. "We wanted to understand what that particular 'spelling mistake' was doing. So, we recreated it in cells, watched what changed, and then tested whether we could use gene-editing technology to change that incorrect letter back-and we could."

Thomas-Charles was clear that although the findings do not represent a treatment for the individual with the mutation, they demonstrate a promising approach to understanding rare genetic diseases and exploring potential strategies for correcting them.