Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research

From finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure.

• Many parents of children with Fragile X know well the struggles of getting their children to sleep through the night. Mice and fruit flies engineered to mimic Fragile X Syndrome also have disrupted sleep. Drs. Westmark and Smith will test potential therapeutics in mice using sleep as an outcome measure and investigate whether sleep could be used as an outcome measure for future clinical trials.
• The search is on for a simple blood test to measure how well a treatment works for an individual with Fragile X. Dr. Frank Kooy’s team investigates.

• One of the goals of FRAXA’s research program has been to find biological pathways affected in Fragile X that are amenable to treatment with small molecules (drugs). Past efforts have been successful, generating large numbers of treatment targets, and this year, Dr. Osterweil and Dr. Bardoni will study new promising targets.
• All these treatment targets raise an important question: are these various neural pathways and targets related at some key point? Is there a critical node, a point where pathways connect, which would allow for the most effective treatment? Two projects funded last year are looking for just such critical nodes (see Vanderklish and Moine). Until a critical node is found, we may need combinations of drugs to best help people with Fragile X syndrome. Dr. Razak’s study of combination treatments aims to show us the best way forward and form the basis for success in clinical trials.

• The holy grail of Fragile X research is to reactivate the gene, FMR1, which is silenced in people who have the syndrome. Using genetic engineering, researchers can already switch on the gene in adult Fragile X mice, and correct symptoms in this way. Teams led by Dr. Peter Todd and Dr. Jeannie Lee will pursue gene reactivation in mice using the new technique, CRISPR.

Investigator	Additional Investigator	Funding (over 2 Years)	University	Project
	Samantha Wright, PhD	$122,000	University of Wisconsin-Madison	Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X Read More
	Rachael Sare, PhD	$90,000	National Institute of Mental Health, NIH Washington, DC	Altered Sleep Homeostasis in Fragile X Syndrome: Basis for a Potential Therapeutic Target
	Elisa Cappuyns, PhD	$90,000	University of Antwerp, Belgium	A Kinase Assay as a Biomarker for Fragile X Syndrome Read More
	Jennifer Siegel, PhD	$90,000	University of Texas at Austin	Prefrontal cortex network dynamics in Fragile X Syndrome Read More
	Stephanie Barnes, PhD	$90,000	University of Edinburgh, Scotland	Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome Read More
	Thomas Maurin, PhD	$90,000	CNRS Orleans, France	Modulating cAMP And cGMP Levels As A New Therapeutic Approach For FXS Read More
	Jiahui Wu, PhD	$90,000	Weill Medical College of Cornell University, NY	Which is the right FMRP for Therapeutic Development of Fragile X Syndrome? Read More
	Jonathan Lovelace, PhD	$90,000	University of California, Riverside	Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers Read More
	Jill Haenfler, PhD	$90,000	University of Michigan	Targeted transcriptional reactivation of FMR1 in Fragile X Syndrome stem cellsRead More
	Danya Martell-Smart, PhD	$180,000	Harvard University	Treating Fragile X Syndrome by Reactivating the Silenced Copy of FMR1 Read More

Congratulations to the new grantees! The grand total of these awards is $1,022,000 over the next two years.  Additional awards still to come!