“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.”
Studies at Yale University and elsewhere are showing that FMRP plays a significant role in the regulation of potassium channels. Looking forward, potassium channel opener drugs could rescue some symptoms of fragile X in humans.
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.
FRAXA Research Foundation funded a 2016 grant of $90,000 over two years for a postdoctoral fellowship for Thomas Maurin, PhD, who is working under the mentorship of Dr. Barbara Bardoni at INSERM in France. This project has been renewed in 2017 for a second year. The team works on the biochemistry of the fragile X protein.
With a 2015-2016 $90,000 grant from FRAXA Research Foundation, Dr. Herve Moine and Dr. Andrea Geoffroy aim to uncover the exact role of FMRP and to test a novel possible means to correct for FMRP absence in the mouse model of fragile X syndrome.
With a $90,000 grant from the FRAXA Research Foundation from 2013-2014, Dr. Andres Ozaita led a team to test rimonabant’s ability to blockade the CB1 receptor. Blocking CB1 has shown potential to reverse most symptoms of disease in mice bred to mimic fragile X syndrome.
With a $180,000 grant from the FRAXA Research Foundation over 2011-2014, Dr. Yue Feng and Dr. Wenqi Li at Emory University will study CDK5 pathway function and regulation in an effort to break down whether and how CDK5 signaling is affected by the loss of the fragile X protein, FMRP, in the fragile X mouse model.