2017 Grants Archives • Fragile X Research

Non-Invasive Imaging as a Biomarker for Future Fragile X Clinical Trials

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Disease Mechanisms • Frick, Andreas • Grokoski, Kamila Castro • Neurocentre Magendie, France September 6, 2018September 6, 2018MRI

FRAXA Research Foundation has renewed Kamilla Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamilla Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.

Auditory Dysfunction in Fragile X Syndrome, Role for the Sound Localization Pathway

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Disease Mechanisms • Klug, Achim • McCullagh, Elizabeth • University of Colorado June 5, 2018June 5, 2018autism, hypersensitivity, neural network, sound

FRAXA Research Foundation has renewed Dr. Elizabeth McCullagh’s 2017 FRAXA Fellowship for a second year. Dr. McCullagh and Principal Investigator Dr. Achem Klug are investigating the “cocktail party effect” in Fragile X mice. There is a specific circuit which allows us to discriminate between competing sound sources, helping us focus on a sound source of interest such as with a conversation partner. If clear differences are found in this circuit, they could be used as potential biomarkers for Fragile X clinical trials.

Neural Markers of Cognitive, Language and Behavioral Deficits in Children with Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Harvard University • Nelson, Charles A. • Recruiting • Wilkinson, Carol March 16, 2018August 22, 2018autism, EEG, Pierce Family Fragile X Foundation

This 2017 grant of $90,000 over two years enabled Dr. Wilkinson to study EEG in young children with Fragile X syndrome at Boston’s Children’s Hospital. She is working with principal investigator, Dr. Charles Nelson, Professor of Pediatrics at Harvard Medical School and a specialist in cognitive neuroscience. Co-funded by the Autism Science Foundation and the Pierce Family Fragile X Foundation.

Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Current Research Grants • Drug Repurposing • Healx February 8, 2018July 26, 2018drug repurposing, FDA, FRAXA-DVI, Healx

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.

Fragile X Clinical Trial of AZD7325 in Adults

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Cincinnati Children's Hospital • Clinical • Clinical Trials • Current Research Grants • Erickson, Craig February 1, 2018August 22, 2018AstraZeneca, AZD7325, GABA, glutamate

With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson will conduct a double-blind, placebo-controlled clinical trial of AZD7325 in adults 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.

Novel Modulators of Potassium Channels to Treat Fragile X

FRAXA Research Foundation 2006-2010 Grants • 2011 Grants • 2012 Grants • 2013 Grants • 2014 Grants • 2015 Grants • 2016 Grants • 2017 Grants • Disease Mechanisms • Kaczmarek, Leonard • Treatment Targets • Yale University December 25, 2017August 30, 2018Autifony Therapeutics, autism, glutamate, hypersensitivity, ion channel, mGluR, mGluR5, mRNAs, potassium channels, sound

With funding from FRAXA, the Yale University team of Leonard Kaczmarek, PhD showed that the firing pattern of suditory 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.

Connectivity as a Biomarker for Future Fragile X Clinical Trials

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Frick, Andreas • Grokoski, Kamila Castro • Neurocentre Magendie, France October 26, 2017August 22, 2018autism, channelopathy, hypersensitivity, ion channel, MRI, mRNAs

With a 2017 grant from FRAXA Research Foundation of $90,000, Dr. Andreas Frick’s team at Neurocentre Magendie, in France, will test non-invasive imaging using magnetic resonance imaging (MRI) as a potential biomarker for future Fragile X syndrome clinical trials.

Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

FRAXA Research Foundation 2015 Grants • 2016 Grants • 2017 Grants • Biomarkers • Clinical • Clinical Trials • Corbin, Francois • Current Research Grants • University of Sherbrooke, Canada October 3, 2017April 30, 2018Fragile X Meeting, lovastatin, minocycline

With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with Fragile X syndrome.

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

FRAXA Research Foundation 2016 Grants • 2017 Grants • Biomarkers • Current Research Grants • Lovelace, Jonny • Razak, Khaleel • Treatment Targets • University of California at Riverside October 3, 2017March 22, 2018EEG, hypersensitivity, mGluR5, minocycline, MMP9, sound

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.

Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

FRAXA Research Foundation 2017 Grants • 2018 Grants • Agency for Science, Technology and Research (A*STAR) • Current Research Grants • Genetic Rescue • Pouladi, Mahmoud • Utami, Kagistia October 2, 2017August 22, 2018

Drs. Mahmoud Pouladi and Kagistia Utami at the Agency for Science, Technology and Research (A*STAR) in Singapore have won a $67,500 research grant from FRAXA Research Foundation. Their goal is to reactivate the gene which is silenced in people who have Fragile X syndrome.

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

FRAXA Research Foundation 2011 Grants • 2012 Grants • 2013 Grants • 2014 Grants • 2015 Grants • 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Drug Repurposing • FLENI Foundation • Resources • University of Chile October 1, 2017August 22, 2018Alzheimer's, EEG, FRAXA-DVI, seizure

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.

Aberrant Insulin Signaling in a Mouse Model of Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • Current Research Grants • Disease Mechanisms • Gantois, Ilse • McGill University • Sonenberg, Nahum • Treatment Targets September 30, 2017August 22, 2018Alzheimer's, autism, cancer, Fragile X Research Foundation of Canada, metformin

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.

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • Current Research Grants • Disease Mechanisms • Higashimori, Haruki • Men, Yuqin • Treatment Targets • Tufts University • Yang, Yongjie September 30, 2017August 22, 2018astrocytes, autism, glutamate, Pierce Family Fragile X Foundation

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.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Banerjee, Probal • College of Staten Island • Current Research Grants • Disease Mechanisms • Treatment Targets September 30, 2017August 29, 2018

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.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Albert Einstein College of Medicine • Current Research Grants • Disease Mechanisms • Treatment Targets • Zukin, Suzanne September 27, 2017August 22, 2018

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.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Canal, Clinton E. • Current Research Grants • Disease Mechanisms • Drug Repurposing • Mercer University September 27, 2017August 22, 2018autism, serotonin

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.

Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells

FRAXA Research Foundation 2016 Grants • 2017 Grants • Current Research Grants • Genetic Rescue • Todd, Peter • University of Michigan September 23, 2017May 1, 2018CRISPR

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.

Investigating Gene Reactivation to Treat Fragile X Syndrome

FRAXA Research Foundation 2016 Grants • 2017 Grants • Current Research Grants • Genetic Rescue • Harvard University • Lee, Jeannie • Massachusetts General Hospital September 22, 2017April 28, 2018CRISPR, Pierce Family Fragile X Foundation

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.

Modulating cAMP and cGMP Levels to Treat Fragile X Syndrome

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Bardoni, Barbara • Current Research Grants • Disease Mechanisms • INSERM Valbonne, France • Maurin, Thomas • Treatment Targets September 20, 2017August 22, 2018cyclic AMP, mRNAs

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.

Mechanisms of Tolerance to Chronic mGluR5 Inhibition

FRAXA Research Foundation 2015 Grants • 2016 Grants • 2017 Grants • Bear, Mark • Disease Mechanisms • Massachusetts Institute of Technology (MIT) • Osterweil, Emily • Research Grant with Results • Senter, Rebecca • Treatment Targets September 19, 2017August 29, 2018AFQ056, drug tolerance, glutamate, lovastatin, mGluR5, Novartis, Roche

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.

Prefrontal Cortex Network Dynamics in Fragile X Syndrome

FRAXA Research Foundation 2016 Grants • 2017 Grants • Current Research Grants • Disease Mechanisms • Johnston, Daniel • Siegel, Jennifer • Treatment Targets • University of Texas at Austin September 18, 2017March 12, 2018

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.

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

FRAXA Research Foundation 2013 Grants • 2014 Grants • 2016 Grants • 2017 Grants • Contractor, Anis • Current Research Grants • Drug Repurposing • He, Qionger • Northwestern University • Research Grant with Results • Treatment Targets September 15, 2017August 6, 2018bumetanide, GABA, hypersensitivity

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.

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

Theodore Coutilish 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Treatment Targets • University of Wisconsin • Westmark, Cara May 23, 2017August 29, 2018Alzheimer's, amyloid precursor protein, autism, EEG, seizure, sleep, sound

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.

Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?

FRAXA Research Foundation 2001-2005 Grants • 2006-2010 Grants • 2016 Grants • 2017 Grants • Cornell University • Current Research Grants • Disease Mechanisms • Gan, Wen-Biao • Jaffrey, Samie • Treatment Targets April 24, 2017March 13, 2018

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.

Biomarker Discovery and Validation for Fragile X Syndrome

FRAXA Research Foundation 2001-2005 Grants • 2006-2010 Grants • 2011 Grants • 2012 Grants • 2015 Grants • 2016 Grants • 2017 Grants • Bhattacharya, Aditi • Biomarkers • Completed Research Grant • Klann, Eric • New York University March 24, 2017August 6, 2018autism, mTOR

With a $60,000 grant from FRAXA Research Foundation in 2015 that was renewed in 2016, Dr. Eric Klann of New York University will research biomarkers in fraile X syndrome and how to translate these markers from mouse models to human patients.

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