Investigating Gene Reactivation to Treat Fragile X Syndrome
Jeannie T. Lee MD, PhD
Principal Investigator
Danya Martell-Smart, PhD
Co-Investigator
Alexandra Marsillo
Graduate Student
Harvard University and Massachusetts General Hospital
Boston, MA
2016-2017 Grant Funding: $180,000
With support from the Pierce Family Fragile X Foundation
Summary
Dr. Jeannie Lee and her team at Harvard are working to reactivate the mutated gene, FMR1, which causes Fragile X syndrome!
The Results
The Science
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 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.
