“We are trying to target the first event that goes wrong in fragile X syndrome”, says Todd, “One reason our previous attempts to develop treatments for fragile X syndrome have failed is that they’ve tried to target the downstream effects of losing the fragile X protein. The protein does many things… bypassing all the functions that it normally takes care of has proven difficult from a pharmacologic perspective.”
The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words. These brief updates from researchers investigating fragile X.
With a $90,000 grant from FRAXA Research Foundation awarded in 2016, University of Michigan researcher Peter Todd, MD, PhD, is using CRISPR to selectively turn the fragile X gene back on in stem cells.