Characterization and Modulation of microRNAs in Fragile X Syndrome

Characterization and Modulation of microRNAs in Fragile X Syndrome

Could microRNAs be a new path to treatment of Fragile X syndrome? MicroRNAs are disrupted in Fragile X, and so this team will work to understand what is going wrong and explore ways to correct it with drugs which directly target microRNAs.

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mRNA Therapy for Fragile X Syndrome

mRNA Therapy for Fragile X Syndrome

Dr. Kathryn Whitehead, Associate Professor at Carnegie Mellon University, helped develop the revolutionary science behind the COVID-19 vaccines. With a $103,000 grant from FRAXA, her team will now adapt this technology to deliver the missing Fragile X protein, to treat people who have Fragile X syndrome.

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

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

With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.

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Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS

Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS

The researchers are developing next-generation drugs called peptidomimetics, using the functional features of FMRP. If they succeed, the hope is that we will have new drugs that could make up for the loss of FMRP, thus treating Fragile X syndrome.

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Cannabinoids as a Treatment for Fragile X Syndrome

Cannabinoids as a Treatment for Fragile X Syndrome

Many people with Fragile X syndrome are hyper-sensitive to sights and sounds, and Electroencephalography (EEG) studies show that there are abnormalities in brain circuits. EEG studies show similar changes in Fragile X mice. So the team will use EEG tests in mice to find which drugs best reduce hypersensitivity. They can then easily move on to human EEG-based clinical trials. What they learn will tell us much more about why people with Fragile X are hypersensitive – and which drugs could best help them.

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Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X

Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X

All cells have a kind of housecleaning service which sweeps away genetic errors. This is called nonsense-mediated mRNA decay (NMD). With a previous FRAXA grant, this team discovered runaway NMD in cells of Fragile X patients. It’s not yet known how this impacts people with Fragile X. With this grant, Dr. Maquat and Dr. Kurosaki will test drugs which can bring NMD back to normal levels.

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Link Between Lipid Profile, eCBome System and Gut Microbiome in Fragile X Syndrome

Link Between Lipid Profile, eCBome System and Gut Microbiome in Fragile X Syndrome

Why does obesity challenge so many people with Fragile X? Dr. Caku’s team thinks changes in the gut are the culprit. This team has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut. They believe that these abnormalities cause changes in the brain which impair learning and behavior.

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Pharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)

Pharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)

This study will test CBD (cannabidiol) treatment in male and female Fragile X mice to learn how and why it works and whether gender affects responses to CDB treatment. Along with clinical trials, this study will help us to understand and optimize the potential of CBD as a behavior-regulating treatment for Fragile X.

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Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

FRAXA Research Foundation has awarded a $90,000 research grant to Stanford University principal investigators Dr. Philippe Jacques Mourrain and Dr. Gordon Wang, along with postdoctoral fellow, Dr. Rochelle Coulson. They are evaluating additive effects of combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome.

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Targeting Adiponectin to Treat Fragile X Syndrome

Targeting Adiponectin to Treat Fragile X Syndrome

FRAXA Research Foundation has awarded a $30,000 research grant to principal investigator Brian Christie, PhD, and postdoctoral fellows Jonathan Thacker, PhD, and Luis Bettio, PhD, at the University of Victoria. They are investigating whether boosting the hormone adiponectin can effectively treat Fragile X syndrome. This project is funded in partnership with the Fragile X Research Foundation of Canada, which is providing an additional $15,000.

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Targeting Mitochondria in Human Fragile X Syndrome Neurons

Targeting Mitochondria in Human Fragile X Syndrome Neurons

FRAXA Research Foundation has awarded a $90,000 research grant to principal investigator Dr. Xinyu Zhao and postdoctoral fellow Dr. Minjie Shen at the University of Wisconsin. They are investigating whether drugs which boost mitochondria — which provide the energy for cells — could treat Fragile X syndrome. Dr. Zhao explains in this video. With this award, FRAXA has funded almost $1 Million in Fragile X research at the University of Wisconsin!

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation and The Pierce Family Fragile X Foundation have awarded a 2019 grant of $90,000 to Dr. Jeannie Lee’s lab at Harvard and Massachusetts General Hospital. They have discovered a method that will reactivate the FMR1 gene by treating cells with a cocktail of small molecules, under a specific regimen in vitro (patent filing pending).

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Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

FRAXA has awarded a $90,000 grant to Carlos Portera-Cailliau, PhD and Nazim Kourdougli, PhD at UCLA to investigate whether a novel drug can rescue sensory processing deficits in Fragile X mice. People with Fragile X have similar problems in sensory processing. This new drug acts on Kv3.1, a promising Fragile X treatment target also being pursued by UK-based Autifony Therapeutics based on FRAXA-funded research done at Yale.

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Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Dr. Stephanie Barnes has been investigating the role of NMDA receptors as a FRAXA Postdoctoral Fellow in Dr. Emily Osterweil’s laboratory at the University of Edinburgh from 2016-2018. With an additional year grant from FRAXA, she is now continuing her work to identify novel targets and test pharmacological therapies in the Fragile X mouse model at the Picower Institute at MIT with Dr. Mark Bear.

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Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

FRAXA Research Foundation has awarded a $90,000 grant to Principal Investigator Dr. Sean McBride and Postdoctoral Fellow Dr. Karen Joyce, at Rowan University, to screen all 2,320 FDA-approved drugs on both mouse and fly models of Fragile X syndrome. Those drugs which show promise will be tested in more detail for potential to treat Fragile X in humans.

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Novel Modulators of Potassium Channels to Treat Fragile X

Novel Modulators of Potassium Channels to Treat Fragile X

With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.

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Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

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Research Points to Drugs which Inhibit PDE to Treat Fragile X

Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation funded a grant of $90,000 over 2016-2018, for a postdoctoral fellowship for Thomas Maurin, PhD, working under the mentorship of Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein. They have found that PDE inhibitors (a class of drugs) show promise as treatments for Fragile X syndrome. In related research, FRAXA is currently funding a clinical trial of PDE4D inhibitors.

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Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. 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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NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model

NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model

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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Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

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Three-Dimensional Model for Identifying Fragile X Treatments

Three-Dimensional Model for Identifying Fragile X Treatments

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

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Pharmacological Tolerance in the Treatment of Fragile X Syndrome

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Dr. Patrick McCamphill, postdoctoral fellow in Dr. Mark Bear’s lab at Massachusetts Institute of Technology (MIT), is investigating drug tolerance to mGluR5 antagonists, arbaclofen, and other potential Fragile X treatments. He is also exploring ways to overcome it.

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Combinatorial 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

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.  

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