2021 Fragile X Research Grants Funded by FRAXA Research Foundation

2021 Fragile X Research Grants Funded by FRAXA Research Foundation

Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.

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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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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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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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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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Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.

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Deep Molecular Profiling of Fragile X Mouse and Human Cells

Deep Molecular Profiling of Fragile X Mouse and Human Cells

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.

Deep Molecular Profiling of Fragile XRead more

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.

Antonella Borreca, PhD, and Alberto Martire, PhDRead more

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

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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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How Promising is CRISPR for Fragile X?

How Promising is CRISPR for Fragile X?

Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School, was recently awarded a FRAXA Research Grant for gene reactivation with the use of CRISPR. In this interview he tells us about CRISPR in Fragile X research, how realistic is it that it could turn the Fragile X gene back on, and if it can really be a cure for Fragile X.

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In Their Own Words: Reports From the International Fragile X Workshop

In Their Own Words: Reports From the International Fragile X Workshop

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words, with brief updates from researchers investigating Fragile X.

18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, CanadaRead more

Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells

Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells

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.

Dr. Peter ToddRead more

Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model

Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model

With a 2015-2016 $90,000 grant from FRAXA Research Foundation, Dr. Herve Moine and Dr. Andrea Geoffroy aim to uncover the exact role of FMRP and to test a novel possible means to correct for FMRP absence in the mouse model of Fragile X syndrome.

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Fragile X Mutant Mouse Facility

Fragile X Mutant Mouse Facility

With $375,000 in grants from the FRAXA Research Foundation since 2009, Dr. David Nelson has developed an impressive array of advanced mouse models of Fragile X, at Baylor College of Medicine. These models are available to investigators worldwide on request. This resource has been essential for a broad, rapid distribution of Fragile X and related gene mouse models and has increased the pace of Fragile X research.

David Nelson, PhD, FRAXA InvestigatorRead more

Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome

Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome

With a $90,000 grant from the FRAXA Research Foundation, Dr. Lynne Maquat and Dr. Tatsuaki Kurosaki will investigate nonsense-mediated mRNA decay (NMD) in Fragile X. NMD is a “housekeeping” process that cells use to prevent faulty proteins from being made. But there is too much of it in Fragile X syndrome. There are already available drugs that suppress NMD – including caffeine.

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Boston Bruins Grant Funds New Fragile X Research

Boston Bruins Grant Funds New Fragile X Research

Bruins Foundation Executive Director Bob Sweeney pledging a $90,000 donation to FRAXA Research today at Shared Living Collaborative’s Gateway Farm in Merrimac, MA. The award will enable the organization to fund an entirely new research project aimed at developing new treatments for Fragile X, a genetic syndrome that is the most common inherited cause of autism.

Bruins $90,000 donation to FRAXA for Fragile X research grantRead more

FRAXA Grant to Nahum Sonenberg, PhD — Effects of metformin in Fmr1 knockout mouse model of Fragile X syndrome

FRAXA Grant to Nahum Sonenberg, PhD — Effects of metformin in Fmr1 knockout mouse model of Fragile X syndrome

Mis-regulation of activity-dependent protein synthesis is one of the major cellular abnormalities found in Fragile X. Upstream neuronal signaling regulates a large cluster of enzymes called the mTORC1 complex, which in turn regulates protein synthesis. This complex is also controlled by cellular energy levels via the metabolic sensor AMP-activated Protein Kinase (AMPK). AMPK is a highly conserved kinase that is activated under conditions of energy stress, when intracellular ATP levels decline and intracellular AMP increases.

Nahum SonenbergRead more

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

With a $349,000 grant from FRAXA Research Foundation from 2008-2015, Dr. Paul Lombroso and his team at Yale University researched if inhibiting STEP could reduce behavioral abnormalities in Fragile X syndrome. Results published.

Paul Lombroso, PhD, Yale University, FRAXA InvestigatorRead more

Functional Interplay Between FMRP and CDK5 Signaling

With a $180,000 grant from the FRAXA Research Foundation over 2011-2014, Dr. Yue Feng and Dr. Wenqi Li at Emory University will study CDK5 pathway function and regulation in an effort to break down whether and how CDK5 signaling is affected by the loss of the Fragile X protein, FMRP, in the Fragile X mouse model.

FRAXA Research Foundation logoRead more

Scientists Uncover Trigger for Fragile X Syndrome

Scientists Uncover Trigger for Fragile X Syndrome

A new study led by Weill Cornell Medical College scientists shows that Fragile X syndrome occurs because of a mechanism that shuts off the gene associated with the disease. The findings, published today in Science, also show that a compound that blocks this silencing mechanism can prevent Fragile X syndrome – suggesting a similar therapy may be possible for 20 other diseases that range from mental retardation to multisystem failure.

Samie Jaffrey, PhD, at Weill Medical College of Cornell University, FRAXA research grantRead more

Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome

Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome

With a 2-year, $90,000 grant from FRAXA Research Foundation, Dr.’s Matthew Disney and Wang-Yong Yang worked to correct the underlying problem in Fragile X: the silencing of the Fragile X gene (FMR1) and the resulting lack of FMRP (Fragile X Mental Retardation Protein). Their approach was to use novel small molecules to target the abnormal CGG repeats before the FMR1 gene.

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