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

4 Countries – 10 Teams – $1 Million

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.

Improving Clinical Trials

  • 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.

Testing Treatment Targets

  • 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.

Reactivating the Silenced Fragile X Gene

  • 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

Fragile X research - Cara Westmark, PhD, at Waisman Center, University of Wisconsin
Cara Westmark, PhD
Samantha Wright, PhD $122,000 University of
Wisconsin-Madison
Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

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Carolyn Smith, FRAXA Investigator at NIMH
Carolyn B. Smith, PhD
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
Frank Kooy, PhD, at University of Antwerp
Frank Kooy, PhD
Elisa Cappuyns, PhD $90,000 University of Antwerp, Belgium A Kinase Assay as a Biomarker for Fragile X Syndrome

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Danjohnston
Daniel Johnston, PhD
Jennifer Siegel, PhD $90,000 University of Texas at Austin Prefrontal cortex network dynamics in Fragile X Syndrome

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Dr. Emily Osterweil
Emily Osterweil, PhD
Stephanie Barnes, PhD $90,000 University of Edinburgh, Scotland Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome

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Barbara Bardoni, PhD at CNRS, FRAXA research grant
Barbara Bardoni, PhD
Thomas Maurin, PhD $90,000 CNRS Orleans,
France
Modulating cAMP And cGMP Levels As A New Therapeutic Approach For FXS

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Samie Jaffrey, PhD, at Weill Medical College of Cornell University, FRAXA research grant
Samie Jaffrey, MD, PhD
Jiahui Wu, PhD $90,000 Weill Medical College of Cornell University, NY Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?

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Khaleel Razak, Fragile X research award
Khaleel Razak, PhD
Jonathan Lovelace, PhD $90,000 University of California,
Riverside
Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

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Dr. Peter Todd, FRAXA grantee, Fragile X research award
Peter Todd, MD, PhD
Jill Haenfler, PhD $90,000 University of Michigan Targeted transcriptional
reactivation of FMR1 in Fragile X Syndrome stem cellsRead More
Jeannie Lee, MD, PhD
Jeannie Lee, MD, PhD
Danya Martell-Smart, PhD $180,000  Harvard University Treating Fragile X Syndrome by Reactivating the Silenced Copy of FMR1

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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!

THE AUTHOR

After her son Andy was diagnosed with Fragile X, Katie, her husband Michael Tranfaglia, and a third parent founded FRAXA Research Foundation. She has served as FRAXA’s executive director since 1994. Katie has a BA in History from Harvard and an MA in Computer Science from UNC Chapel Hill. She worked as a software engineer and instructor in computer science before FRAXA.

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