Correcting the Brain’s Emotional Memory Center

Correcting the Brain’s Emotional Memory Center

ell Reports has published the results of the study “Correction of Amygdalar Dysfunction in Rat Model of Fragile X Syndrome” by FRAXA Investigator Dr. Sumatra Chattarji and his team at the National Centre for Biological Sciences in Bangalore, India. The researchers investigated the synaptic basis of deficient conditioned fear and its reversal in Fragile X syndrome rats.

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Purposeful and FRAXA Partnership Leads to Clinical Trial

Purposeful and FRAXA Partnership Leads to Clinical Trial

Can a combination of drugs make a meaningful difference for people with Fragile X? A new clinical trial is going to find out. 15-20 adult men with Fragile X will be included in this upcoming trial, which will test the effects of an available drug and a nutritional supplement taken together.

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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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Exploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models

Exploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models

A gene’s job is to produce a protein. In Fragile X syndrome, the FMR1 gene is mutated and cannot make FMRP, a protein which shapes connections between nerve cells (neurons) in the brain. These connections are the basis of learning and memory. This team has discovered a mechanism involving FMRP that is absolutely essential to control the connections between neurons. These connections are the basis of learning and memory. They will now test available drugs which directly target this mechanism, to see if they can treat Fragile X syndrome.

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Contribution of Microglia to the Therapeutic Effects of Metformin and Adiponectin in Fragile X Syndrome

Contribution of Microglia to the Therapeutic Effects of Metformin and Adiponectin in Fragile X Syndrome

The research team of Brian Christie, PhD and Marie-Eve Tremblay is developing ways to balance hormones, including drugs like metformin and changes in diet, which could not only reduce hunger and obesity, but ultimately also improve learning and behavior in Fragile X syndrome.

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20 Years of Advancing Fragile X Research: Progress Toward a Cure

20 Years of Advancing Fragile X Research: Progress Toward a Cure

Dr. Mark Bear joined the Fragile X field in 1999 when he received a research grant from FRAXA Research Foundation. At the time, we recognized the symptoms of Fragile X, and we knew its cause: a single missing protein. But we knew very little else. Dr. Bear traces the discoveries that now give us great optimism of finding effective treatments and ultimately a cure for Fragile X.

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Brain Organoids, Moving Fragile X Research Forward

Brain Organoids, Moving Fragile X Research Forward

There are many ways research produces discoveries, and all of them include a process of steps that build on each other. When an exciting new avenue appeared with potential for Fragile X syndrome, FRAXA stepped up to fund it. We now see the results of this grant and are excited to share them with you. The importance of different types of models have been shared and discussed over many years. We are now adding a “brain organoid” model to this group, and the potential behind it is really exciting.

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Tetra’s Fragile X Clinical Trial – The Most Successful So Far

Tetra’s Fragile X Clinical Trial – The Most Successful So Far

Dr. Mark Gurney, CEO of Tetra Therapeutics, discusses how one of the earliest clues to the biology of Fragile X led to the most successful Fragile X clinical trial to date. FRAXA and Tetra began working together after a key FRAXA-funded study caught the attention of Dr. Gurney. Through the FRAXA Drug Validation Initiative, Dr. Patricia Cogram was able to conduct preclinical validation experiments with Tetra’s lead compound in record time, paving the way for clinical trials.

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Alternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome

Alternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome

The Pierce Family Fragile X Foundation helping to fund a joint grant to the University of Massachusetts Medical School and Rush University Medical Center in exploring biomarkers to measure whether a treatment is helping and determine how to optimize treatment for each individual.

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2021 FRAXA Awards – Recognizing Perseverance and Dedication

2021 FRAXA Awards – Recognizing Perseverance and Dedication

In conjunction with World Fragile X Day 2021, FRAXA Research Foundation is proud to recognize its annual award recipients. This year’s recipients exemplify the perseverance and dedication that has made FRAXA a global leader in Fragile X research for nearly 30 years. We are fortunate to partner with these individuals on research, community support and awareness efforts.

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

Link Between Lipid Profile, eCBome System and Gut Microbiota 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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Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Mode

Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Mode

With this grant, the team will identify the pathways responsible for this excessive activation and attempt to reverse the excess. If they can correct this using drugs, they will be able to identify a new potential treatment for Fragile X solving one more piece of the Fragile X brain puzzle.

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The Role of Astrocyte BMP Signaling in Fragile X Syndrome

The Role of Astrocyte BMP Signaling in Fragile X Syndrome

Astrocytes are star-shaped cells that make up one fifth of all cells in the human brain. Recently researchers found a specific pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug. With this grant, the team will try to correct the pathway in Fragile X mice. The hope is that they will find a new potential treatment approach for Fragile X syndrome.

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Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

Did you know that depression is more common in those with autism and/or Fragile X? Even more disturbing is the discovery that current treatments for depression do not work in Fragile X mice. With this grant, the team will work to develop a rapid screening tool to identify FDA-approved drugs which can treat depression in people with Fragile X syndrome.

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Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles

Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles

Why is it so hard to find the right medications to help people with Fragile X? Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.

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Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA

Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA

We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he is looking for ways to overcome it.

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FRAXA Drug Validation Initiative (FRAXA-DVI)

FRAXA Drug Validation Initiative (FRAXA-DVI)

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).

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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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Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.

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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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Clinical Study of Non-Invasive EEG for Children Ages 2-7

Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of brain differences using non-invasive EEG.

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Parkinson’s Therapy May Hold Promise for Fragile X

Parkinson’s Therapy May Hold Promise for Fragile X

A study funded by FRAXA in Italy has encouraging results for people with Fragile X: drugs that block adenosine receptors (A2A) reversed signs of Fragile X in a mouse model. 

“One of the most intriguing things about this study is that it points to an entire drug class (not just the one drug used) as potentially therapeutic for Fragile X. Many available compounds block A2A receptors, and we know they are safe and effective.

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Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

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Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

Presentations by:
Craig Erickson – Translational medicine and mechanistic studies of brain neurophysiology in Fragile X Syndrome: A NIH Center Overview
Ernest Pedapati – Network Mechanisms, Biomarkers, and Pharmacology of Fragile X Syndrome in Humans
Devin Binder – Network Mechanisms of Neurophysiology and Behavior in mouse models of Fragile X Syndrome
Kimberly Huber – FMRP Regulation of local and long-range neocortical circuits in the mouse: Links with EEG phenotypes

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