A publication was released this week summarizing one lab’s discovery that could lead to a future treatment for Fragile X.
Drs. Joel Richter and Sneha Shah at the University of Massachusetts Chan Medical School alongside Dr. Elizabeth Berry-Kravis utilized antisense oligonucleotide (ASO) to treat RNA splicing in postmortem brains of individuals with Fragile X syndrome (FXS). This ASO treatment not only stopped the abnormal FMR1 splicing the Richter lab found occurs in FXS, but also rescued or restored FMR1 splicing, which caused the gene to create Fragile X protein, FMRP. We suggest reading the great, detailed summary of this work on the FRAXA Research Foundation website.
Thanks to organizations like the FRAXA Research Foundation, the Simons Foundation, NIH, and the University of Massachusetts for funding this important work!
ASO is one of a few gene activation approaches being explored in Fragile X. Other approaches include AAV gene therapy and CRISPR. None of these approaches are available to be tried in humans just yet and will require additional research to ensure safety, tolerability, and effectiveness. All are possible future treatments for Fragile X!
We are so excited about what the future holds!
You can also learn more by reading the scientific publication in Proceedings of the National Academy of Sciences (PNAS).