CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally. Much work is being done right now, with exciting new discoveries coming at a fast and furious pace.
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Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X
![Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X Healx team 2018](https://www.fraxa.org/wp-content/uploads/2018/04/Healx_Team_hp-bg-720x300.jpg)
FRAXA Research Foundation initially partnered with Healx in 2016 to identify existing drugs with potential to treat Fragile X syndrome, using machine learning algorithms and computational biology. The study produced results, and now FRAXA and Healx have launched a new round of studies to evaluate combinations of compounds, including both drugs and natural products.
Read moreFragile X Clinical Trial of AZD7325 in Adults
![Fragile X Clinical Trial of AZD7325 in Adults Craig Erickson, MD, Cincinnati Children's Hospital](https://www.fraxa.org/wp-content/uploads/2017/10/erickson-craig-720x300.jpg)
With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson conducting a double-blind, placebo-controlled clinical trial of AZD7325 in adults ages 18-50 with Fragile X syndrome at Cincinnati Children’s Hospital. The compound being studied is an investigational new drug from AstraZeneca that targets GABA (A) receptors.
Read moreCRISPR Reactivation of the Fragile X Gene
![CRISPR Reactivation of the Fragile X Gene Todd-Haenfler](https://www.fraxa.org/wp-content/uploads/2017/12/Tood-Haenfler-720x300.jpg)
“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.”
Read moreDrug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments
![Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments Healx team David, Dan, Narissa - FRAXA (1)](https://www.fraxa.org/wp-content/uploads/2017/01/David-Dan-Narissa-FRAXA-1-e1486728576738-720x300.jpg)
While there are over 8,000 rare diseases affecting an estimated 350 million people worldwide, only around 200 of these conditions have effective treatments. Due to the high cost of developing new drugs, rare diseases have historically been less attractive to pharmaceutical companies. Drug repurposing systematically leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, but with greater success rates and a potentially more immediate impact on health care.
Read moreBrain Imbalance Target of Dr. Erickson’s New Clinical Trial
![Brain Imbalance Target of Dr. Erickson’s New Clinical Trial Craig Erickson lab](https://www.fraxa.org/wp-content/uploads/2017/10/IMG_6209-e1508194901800-720x300.jpg)
According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X.
Read moreCombinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers
![Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers Funding opportunities - FRAXA investigators](https://www.fraxa.org/wp-content/uploads/2016/06/LovelaceRazak-e1508758662616-720x300.jpg)
With a $90,000 grant from FRAXA Research Foundation awarded over 2016-2017, University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, are exploring drug combinations to limit hypersensitivity to sounds in Fragile X mice.
Read moreMicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X
![MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X 2017 Fragile X Research Grant: MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X](https://www.fraxa.org/wp-content/uploads/2017/04/Yang-Yongjie-290x300.jpg)
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.
Read moreAutophagy 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 Jingqi Yan, PhD and Suzanne Zukin, PhD](https://www.fraxa.org/wp-content/uploads/2017/05/Jingqi-Yan-PhD-and-Suzanne-Zukin-PhD-720x300.png)
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.
Read moreQuantitative 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](https://www.fraxa.org/wp-content/uploads/2017/09/clinton-canal-portrait-e1506608456554-720x300.png)
FRAXA Research Foundation awarded a 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, to focus on Fragile X research.
Read moreTargeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells
![Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells Dr. Peter Todd](https://www.fraxa.org/wp-content/uploads/2016/04/Peter-K-Todd-e1589546546916-720x300.jpg)
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.
Read moreDefining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists
![Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists Karen O'Malley](https://www.fraxa.org/wp-content/uploads/2017/10/Karen-OMalley-720x300.jpg)
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).
Read moreInvestigating Gene Reactivation to Treat Fragile X Syndrome
![Investigating Gene Reactivation to Treat Fragile X Syndrome](https://www.fraxa.org/wp-content/uploads/2016/08/Jeannie-Lee-600x300.jpg)
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.
Read moreMechanisms of Tolerance to Chronic mGluR5 Inhibition
![Mechanisms of Tolerance to Chronic mGluR5 Inhibition](https://www.fraxa.org/wp-content/uploads/2013/05/mark-bear-1-e1525888546663-720x300.jpg)
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.
Read morePrefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome
![Prefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome Dan Johnston and Jennifer Seigel](https://www.fraxa.org/wp-content/uploads/2016/06/DSC01038-1-e1466775837233-720x300.jpg)
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.
Read moreAltered 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 Peter Vanderklish](https://www.fraxa.org/wp-content/uploads/2017/10/Vanderklish-e1508769790898-720x300.png)
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.
Read moreDevelopment 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](https://www.fraxa.org/wp-content/uploads/2013/05/mark-bear-1-e1525888546663-720x300.jpg)
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.
Read moreClinical Trial of Ganaxolone in Patients with Fragile X Syndrome
![Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome Frank Kooy, PhD, at University of Antwerp](https://www.fraxa.org/wp-content/uploads/2013/07/frank.kooy_.jpg)
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.)
Read moreNeural Markers of Fragile X: A Powerful New Tool for Clinical Trials
![Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials](https://www.fraxa.org/wp-content/uploads/2017/08/EEG-NeuralMarker-720x300.jpg)
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.
Read moreTargeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms
![Targeting Serotonin Receptors to Treat Behavioral and Psychological Symptoms Clinton Canal, PhD](https://www.fraxa.org/wp-content/uploads/2017/08/Clinton-Canal-PhD-720x300.jpg)
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.”
Read morePreclinical 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](https://www.fraxa.org/wp-content/uploads/2016/05/Westmark-banner-720x300.jpg)
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.
Read moreMetformin, Diabetes Drug, Potential Fragile X Treatment
![Metformin, Diabetes Drug, Potential Fragile X Treatment Nahum Sonenberg, PhD, 2017 Fragile X Research Grant](https://www.fraxa.org/wp-content/uploads/2017/04/Nahum-Sonenberg-600x300.jpg)
“We treated mice with metformin and corrected all the core Fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.
Read moreWhich is the right FMRP for Therapeutic Development of Fragile X Syndrome?
![Which is the right FMRP for Therapeutic Development of Fragile X Syndrome? Samie Jaffrey, PhD, at Weill Medical College of Cornell University, FRAXA research grant](https://www.fraxa.org/wp-content/uploads/2006/07/jaffrey-samie-450x300.jpg)
With a 2-year, $90,000 grant from FRAXA Research Foundation over 2016-17, Dr. Samie Jaffrey at Weill Medical College of Cornell University explored which FMRP isoform is the best target to treat Fragile X syndrome.
Read moreBiomarker Discovery and Validation for Fragile X Syndrome
![Biomarker Discovery and Validation for Fragile X Syndrome klann lab](https://www.fraxa.org/wp-content/uploads/2016/06/klann-lab-720x300.jpg)
With a $120,000 grant from FRAXA Research Foundation over 2015-2016, Dr. Eric Klann of New York University investigated potential new biomarkers in Fragile X syndrome and how to translate these markers from mouse models to human patients.
Read moreFragile X Nervous (System) Breakdown
![Fragile X Nervous (System) Breakdown](https://www.fraxa.org/wp-content/uploads/2017/03/Nervous-System-Breakdown-Lynne-Maquat-e1490199450161-720x300.jpg)
“The occurrence and development of events by chance in a happy or beneficial way.” That’s how Lynne E. Maquat, PhD, describes the process of how her research extended to Fragile X syndrome to better understand it and ultimately find advanced treatments.
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