With a $180,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in fragile X syndrome.
Dr. Lee is an expert in the mechanisms of X-chromosome inactivation. This is an essential process for females (who have two X chromosomes in every cell) because it is critical to have the proper dosage of X chromosome genes. In females with fragile X, one of the two X chromosomes is not being used in each cell. So one way to treat fragile X in females would be to unlock the potential of the silenced good gene.
Interestingly, the specific mechanism that silences an X chromosome in females is similar to the mechanism that shuts down the FMR1 gene in males who have fragile X syndrome. So, Dr. Lee’s studies may also point to a way to reactivate the silenced gene in males.
Danya Martell-Smart, PhD