Truelian Lee '17, of Ridgefield, Conn., has been named a Semifinalist in the Regeneron Science Talent Search (Regeneron STS) competition, a program of Society for Science & the Public. It is the nation's most prestigious pre-college science competition. Each year, 300 Regeneron STS scholars and their schools are recognized.
A member of the Science Research Program at Choate Rosemary Hall, Truelian entered her project presentation, "Correcting the SPH Mutation in a Preclinical Model of Hereditary Spherocytosis Using Genome Editing," into the competition.
Along with mentor-scientists from the department of Pediatrics, Pathology, and Genetics at Yale University, Truelian's research focused on an inherited disorder called recessive hereditary spherocytosis (rHS), in which the red blood cell membrane is abnormal. Says Truelian, "rHS is an inherited genetic disorder caused by a mutation in DNA, which encodes all the genetic information. One plausible way to cure rHS would be to correct the DNA mutation, and that is what my project aimed to do. We used a novel gene-editing technology called CRISPR/Cas9 to see if it could potentially pose as an alternative therapy that would permanently cure patients."
She adds, "In a breakthrough discovery, we achieved perfect gene correction and restored the normal protein expression and healthy morphology of the red blood cells. These results suggest that this strategy should be considered for development as a potential treatment from humans who suffer from rHS."