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.
Dr. Lee and colleagues are looking for combinations of specific drugs to reactivate the silenced gene. They are using CRISPR and other state-of-the-art tools to pinpoint the exact point on the gene to target.
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