Current Research Grants Archives • Page 2 of 2 • Fragile X Research

FRAXA Drug Validation Initiative (FRAXA-DVI)

FRAXA Research Foundation 2011 Grants • 2012 Grants • 2013 Grants • 2014 Grants • 2015 Grants • 2016 Grants • 2017 Grants • 2018 Grants • 2019 Grants • 2020 Grants • 2021 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Deacon, Robert • Drug Repurposing • FLENI Foundation • Research Resources • University of Chile • University of Oxford May 6, 2021May 6, 2021BPN14770, drug repurposing, EEG, FRAXA-DVI, Healx, microbiome, Neuren Pharmaceuticals, NIH, Ovid Therapeutics, PDE4, Tetra Therapeutics, trofinetide

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential Fragile X treatments. FRAXA-DVI uses in-vitro systems, behavior batteries, and gene expression and peripheral biomarker platforms to validate investigational new drugs and repurposed available compounds in Fragile X syndrome (FXS).

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

FRAXA Research Foundation 2021 Grants • Current Research Grants • Gantois, Ilse • McGill University • Sonenberg, Nahum • Treatment Targets May 6, 2021September 14, 2021autism, CBD, endocannabinoid, Zygel

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.

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

FRAXA Research Foundation 2021 Grants • Coulson, Rochelle • Current Research Grants • Mourrain, Philippe Jacques • Stanford University • Treatment Targets • Wang, Gordon March 9, 2021March 10, 2021drug combinations, drug tolerance, Roche

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.

Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

FRAXA Research Foundation 2019 Grants • 2020 Grants • 2021 Grants • Current Research Grants • Gibson, Jay • Holley, Andrew • University of Texas at Southwestern September 2, 2020January 26, 2023drug tolerance, EEG, glutamate, hyperexcitability, hypersensitivity, mGluR5, seizure, sound

FRAXA Research Foundation has awarded $90,000 over 2019-2021 to principal investigator Dr. Jay Gibson and postdoctoral fellow Dr. Andrew Holley at the University of Texas Southwestern Medical Center. They are investigating circuit mechanisms for auditory system dysfunction and drug tolerance in the Fragile X mouse model.

Cholesterol-Dependent Changes in Fragile X Astrocytes

FRAXA Research Foundation 2019 Grants • 2020 Grants • Castren, Maija • Current Research Grants • Disease Mechanisms • Drug Repurposing • Ethell, Iryna • University of California at Riverside • University of Helsinki Finland May 6, 2020February 2, 2023astrocytes, lovastatin

FRAXA Research Foundation has awarded $45,000 to Dr. Maija Castrén, of the University of Helsinki, Finland. Dr. Castren is working with Dr. Iryna Ethell, at the University of California at Riverside, to uncover mechanisms behind beneficial effects of lovastatin and cholesterol-dependent changes seen in the Fragile X brain.

fNIRS to Measure Treatment Response in Young Children with Fragile X

FRAXA Research Foundation 2019 Grants • 2020 Grants • 2021 Grants • Cincinnati Children's Hospital • Clinical • Current Research Grants • Erickson, Craig • Recruiting • Smith Elizabeth • Trials and Studies February 13, 2020November 30, 2021AFQ056, EEG, fNIRS, mGluR5, MRI, NIH, Novartis, sleep

FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.

Targeting Adiponectin to Treat Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Bettio, Luis • Christie, Brian • Current Research Grants • Thacker, Jonathan • Treatment Targets • University of Victoria October 29, 2019Fragile X Research Foundation of Canada, mTOR

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.

Deep Molecular Profiling of Fragile X Mouse and Human Cells

FRAXA Research Foundation 2019 Grants • 2020 Grants • Current Research Grants • Disease Mechanisms • Richter, Joel • Shah, Sneha • University of Massachusetts September 5, 2019October 9, 2020iPS, mRNAs, Pierce Family Fragile X Foundation

FRAXA Research Foundation has awarded $90,000 to Dr. Joel Richter, Principal Investigator, and Dr. Sneha Shah, Postdoctoral Fellow, at the University of Massachusetts Medical School. They are using human induced pluripotent stem (iPS) cells to analyze gene expression in Fragile X syndrome.

Targeting Mitochondria in Human Fragile X Syndrome Neurons

FRAXA Research Foundation 2019 Grants • 2020 Grants • Bhattacharyya, Anita • Current Research Grants • Disease Mechanisms • Shen, Minjie • Treatment Targets • University of Wisconsin • Zhao, Xinyu August 6, 2019April 29, 2020

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!

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

FRAXA Research Foundation 2019 Grants • Current Research Grants • Disease Mechanisms • Kourdougli Nazim • Portera-Cailliau, Carlos • Treatment Targets • University of California at Los Angeles June 19, 2019June 19, 2019Autifony Therapeutics, hypersensitivity, neural network

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.

Gene Therapy Translational Studies for Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • 2020 Grants • 2021 Grants • Beasley, Lindsay • Cincinnati Children's Hospital • Current Research Grants • Erickson, Craig • Genetic Rescue • Gross, Christina • Pedapati, Ernest June 6, 2019March 10, 2021Adeno-associated virus, EEG, NIH

With this $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches using AAV (adeno-associated virus) vectors for treating Fragile X syndrome at Cincinnati Children’s Hospital. Dr. Craig Erickson elaborates about this in this video.

Developmental Profile of Glutamatergic Synapses in Fragile X

FRAXA Research Foundation 2019 Grants • Banke, Tue • Current Research Grants • Disease Mechanisms • University of Washington May 2, 2019June 25, 2019glutamate

FRAXA Research Foundation has awarded a $90,000 research fellowship to Dr. Tue Banke. With this award, Dr. Banke is investigating how glutamate receptors at neuronal synapses – essential building blocks of learning and memory – are impacted in Fragile X syndrome. Dr. Banke recently left Aarhus University in Denmark to continue his research first as a visiting scholar and now as an assistant professor at the University of Washington.

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Current Research Grants • Genetic Rescue • Research Grant Results • Turner, Raymond • University of Calgary, Canada • Zhan, Xiaoqin March 26, 2019August 25, 2022Fragile X Research Foundation of Canada, ion channel, potassium channels, TAT (Trans-Activator of Transcription)

FRAXA Research Foundation and the Fragile X Research Foundation of Canada have awarded a grant of $100,000 over two years to Dr. Raymond Turner at the University of Calgary in Alberta, Canada. Dr. Turner and postdoctoral fellow Xiaoqin Zhan, PhD are attempting to reactivate a segment of FMRP to reverse symptoms of Fragile X in a mouse model of the disease to reduce abnormal behaviors.

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

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • 2021 Grants • Current Research Grants • Disease Mechanisms • Joyce, Karen • McBride, Sean • Rowan University • Treatment Targets January 9, 2019February 5, 2021autism, drug repurposing, FDA, fruit fly, lithium, metformin, mGluR, PDE4, sleep, Tetra Therapeutics

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.

Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Bardoni, Barbara • Current Research Grants • Disease Mechanisms • INSERM Valbonne, France • Maurin, Thomas • Treatment Targets November 4, 2018November 14, 2018mRNAs, PDE4, Tetra Therapeutics

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.

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Current Research Grants • Disease Mechanisms • Ingolia, Nicholas • Kim, J. Wren • University of California at Berkeley July 12, 2018May 15, 2020

FRAXA’s first-ever grant to researchers at the University of California at Berkeley goes to Dr. Nicholas Ingolia and Dr. J. Wren Kim to analyze the proteomics of Fragile X neurons using a newly developed tool which can distinguish the profiles of neurons that are actively responding to signals.

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Binder, Devin • Current Research Grants • Ethell, Iryna • Pirbhoy, Patricia • Treatment Targets • University of California at Riverside June 20, 2018May 15, 2020CBD, EEG, endocannabinoid, hyperexcitability, hypersensitivity, matrix metalloproteinase, minocycline, MMP9, sound

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.

Three-Dimensional Model for Identifying Fragile X Treatments

FRAXA Research Foundation 2018 Grants • 2019 Grants • Current Research Grants • Emory University • Jin, Peng • Kang, Yunhee • Resources • Treatment Targets • Wen, Zhexing May 16, 2018December 24, 2019neural stem cells, organoid

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.

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Bear, Mark • Current Research Grants • Massachusetts Institute of Technology (MIT) • McCamphill, Patrick • Treatment Targets May 9, 2018May 21, 2021AFQ056, arbaclofen, baclofen, drug tolerance, GABA, GSK3, lithium, mGluR5, Novartis, Roche, seizure

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.