Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential new Fragile X treatments. FRAXA has funded FRAXA-DVI for $50,000 or more per year since 2012.

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Aberrant Insulin Signaling in a Mouse Model of Fragile X

Aberrant Insulin Signaling in a Mouse Model of Fragile X

This 2017 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.

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MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

Almost all brain research focuses on neurons – nerve cells. However, the brain has many more glial cells which support, nourish, and protect the neurons. FRAXA Research Foundation awarded a 2017 grant $90,000 to support Dr. Yang’s studies of how changes in glial cells contribute to Fragile X syndrome. This grant is funded by a grant from the Pierce Family Fragile X Foundation.

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Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCepsilon Signaling in the Brain

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCepsilon Signaling in the Brain

FRAXA Research Foundation has made a 2017 grant of $90,000 to Probal Banerjee, PhD, at the College of Staten Island (CUNY). He is exploring a therapeutic strategy based on correcting abnormalities in the PKCepsilon signaling pathway in Fragile X. 

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Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

Dr. Suzanne Zukin, at Albert Einstein College of Medicine, is expert on signaling pathways in the brain and the regulation of synaptic plasticity. With this 2017 grant of $90,000 from FRAXA Research Foundation, she and her team are exploring autophagy, which is how cells clean house, in Fragile X.

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Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome

Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome

FRAXA is proud to make a 2017 grant of $90,000 over two years to Clinton Canal, PhD. Dr. Canal, previously a research assistant professor at Northeastern University, has just launched his own lab at Mercer University in Atlanta, GA. He and his graduate students are fully committed to Fragile X research.

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Defining the Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists

Defining the Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists

With $217,500 in grants from FRAXA Research Foundation, Dr. Karen O’Malley and team studied the function of mGluR5 when it is inside cells. Many of the symptoms of Fragile X Syndrome (FXS) are thought to arise due to overactive metabotropic glutamate receptor 5 (mGluR5) signaling, which is normally opposed by the protein missing in FXS, Fragile X Protein (FMRP).

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Investigating Gene Reactivation to Treat Fragile X Syndrome

Investigating Gene Reactivation to Treat Fragile X Syndrome

With a $180,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

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Modulating cAMP and cGMP Levels to Treat Fragile X Syndrome

Modulating cAMP and cGMP Levels to Treat Fragile X Syndrome

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.

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Mechanisms of Tolerance to Chronic mGluR5 Inhibition

Mechanisms of Tolerance to Chronic mGluR5 Inhibition

Over the past few years, both Novartis and Roche sponsored large-scale clinical trials of metabotropic glutamate receptor 5 (mGlu5) negative allosteric modulators (NAMs) to treat Fragile X syndrome (FXS). With a $90,000 grant from FRAXA Research Foundation in 2015-2017, Dr. Mark Bear’s team will explore if mGlu5 NAMs dosed chronically causes tolerance, and if so, how it develops and to probe new avenues to prevent or circumvent it.

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Prefrontal Cortex Network Dynamics in Fragile X Syndrome

Prefrontal Cortex Network Dynamics in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Daniel Johnston and Dr. Jenni Siegel at the University of Texas at Austin are analyzing pre-frontal cortex (PFC) dysfunction in the Fragile X model. They have preliminary evidence that Fragile X mice are severely impaired in a prefrontal cortex (PFC)-dependent task.

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Can NKCC1 Inhibitors Correct Synaptic and Circuit Hyperexcitability in Fragile X Syndrome?

Can NKCC1 Inhibitors Correct Synaptic and Circuit Hyperexcitability in Fragile X Syndrome?

With $258,000 in grants since 2013 from FRAXA Research Foundation, Dr. Anis Contractor and Dr. Qionger He at Northwestern University are exploring the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.

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$75,000 Raised for Fragile X Research by Friends of FRAXA at our Fall Fling

$75,000 Raised for Fragile X Research by Friends of FRAXA at our Fall Fling

On Thursday, September 7 over 150 friends of FRAXA joined us at the Smith Barn at the Peabody Historical Society for the second annual FRAXA Fall Fling. Together we raised over $75,000 for Fragile X research — including a hand-delivered check for $25,000! Families from as far away as Miami, Florida joined us, even with hurricane Irma approaching their home state. Unfortunately, Irma ambushed Weather Channel Storm Tracker and Fragile X parent, Jim Cantore.

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Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

With a $35,000 grant from FRAXA Research Foundation in 2016, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

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Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

With a $45,000 grant from FRAXA Research Foundation in 2009, Dr. Mark Bear and Dr. Asha Bhakar used High Content Screening (HCS) to develop an assay sensitive to the effect of the FXS genotype. This project was funded in full by NIH after the first year.

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Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation funded during 2014-2015, Dr. Frank Kooy and colleagues at the University of Antwerp are conducting a double blind crossover trial of ganaxolone in patients with Fragile X syndrome. Results of this study were mixed (see Marinus: Results from Phase 2 Exploratory Clinical Study Support Continued Development of Ganaxolone in Fragile X Syndrome.

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Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Elizabeth M. Berry-Kravis, MD, PhD has informed us that Rush University Medical Center in Chicago is enrolling the first patient in the NeuroNext learning trial for children ages 3-6 this week. This is the start of a large-scale Fragile X clinical trial of Novartis AFQ056 (an mGluR5 antagonist) with children.

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Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.

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Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms

Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms

With a $90,000 grant from FRAXA Research Foundation awarded in 2017, Dr. Clinton Canal targets seratonin receptors. “There are 15 unique serotonin receptors (at least) and many of them impact the function of brain circuits that are impaired in neurodevelopmental and psychiatric disorders,” said Dr. Canal. “Results from this project could guide new drug discovery or drug repurposing for Fragile X.”

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Fragile X Awareness Day Origins and a Tribute

Fragile X Awareness Day Origins and a Tribute

July 22 is National Fragile X Awareness Day, but I’ll bet few know the history behind it.

In 2000, before there was such a thing as a Fragile X Advocacy Day, FRAXA Research Foundation and David Busby (husband to Mary Beth, father to two adult sons living with Fragile X, a member of FRAXA’s pioneering leadership team, and a prominent and politically well-connected DC lawyer) were running Fragile X advocacy in Washington, DC.

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FRAXA Fall Event – Sept 16, 2017 – Lagrangeville, NY

FRAXA Fall Event – Sept 16, 2017 – Lagrangeville, NY
15th Annual FRAXA Fall Jeans-for-Genes Join us to find a cure for Fragile X! Saturday, September 16, 2017 • 6:30 pm Crosswinds Equestrian Center 17 Crosswinds Lane LaGrangeville, NY 12540 Buy TicketsDonateFRAXA Fall Event Ron and I are so blessed to be surrounded by kind, generous friends who always seek to help us in our search for a cure for Fragile X Syndrome. This year we are thrilled to host our event in collaboration with Crosswinds Equestrian Center who is donating their facility and Half-Time Beverage who is donating refreshing craft beers. This will allow more money to benefit FRAXA Research Foundation! We know this new venue promises to be filled with family, friends, delicious food, and even a mechanical bull to help create wonderful memories. Jeans and comfortable shoes welcome! Tickets: $125 each Buy TicketsDonate If you have any questions or comments, please contact Amy Watkins at awatkins@fraxa.org.  Fall EventRead more

Patrick’s PALS 21st Annual Basketball Tournament

Patrick’s PALS 21st Annual Basketball Tournament

Play to Find a Cure for Fragile X PAL of the Year: Bob Socci New England Patriots Radio Announcer Special Guest: Bob Ryan Boston Globe Sportswriter Honorary Chair: Scott Shuster Special Friend of Patrick Saturday, June 3, 2017 8:00am – 3:00pm Buckingham Browne & Nichols School, Athletic Center 80 Gerrys Landing Rd Cambridge, MA 02138 PALS is a 3-on-3, 32-team double elimination tournament that raises funds in honor of those affected by Fragile X, including James & Pamela Vershbow’s son Patrick.Your registration fee ($50 per player) will cover breakfast, lunch, refreshments, t-shirt, contests with prizes, trophies and gift certificates for the finalists, and a silent auction. Donations and sponsorships gratefully accepted! Play in PALS XXI either as: A team – maximum of 4 players. A single – you will be assigned to a team short a player or looking for a fourth. For more information contact Jimmy Vershbow at Patricks.Pals@comcast.net.

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Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

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