Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids
Dr. Zhexing Wen and Dr. Peng Jin at Emory University School of Medicine join us in this seminar to present Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.
Interrogate the Functions of FMRP in Brain Development Using Stem Cells
Dr. Xinyu Zhao of the Waisman Center and Department of Neuroscience at University of Wisconsin-Madison joins us in this seminar to present Interrogate the Functions of FMRP in Brain Development Using Stem Cells.
Allos Pharma Revives Arbaclofen After 7 Years: New Hope for Fragile X Syndrome
Allos Pharma Inc launches a new development program for arbaclofen to treat Fragile X syndrome. This experimental drug missed its primary endpoint in clinical trials.
Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor Zatolmilast from Tetra Therapeutics
Tetra Therapeutics announces the first unequivocally positive phase 2 clinical trial in Fragile X syndrome. The results do not depend on carving out a subset of patients or post hoc analysis.
Use of EEG as a Biomarker for Diagnosis and Outcomes in Neurodevelopmental Disorders
This webinar features Charles A. Nelson III, PhD, Professor at Harvard Medical School and Carol Wilkinson, MD, PhD, Instructor at Boston Children’s Hospital.
Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells
This team aims to turn the FMR1 gene back on in Fragile X by identifying factors that reactivate the silenced gene and restore production of the missing FMRP protein.
Yale Researcher Dr. Elizabeth Jonas 1:1 with FRAXA
We talk with Dr. Elizabeth Jonas at Yale School of Medicine about her new research suggesting that leaky mitochondria which may be involved in Parkinson’s and Fragile X syndrome.
MicroRNAs as Biomarkers in Fragile X Syndrome
The team at Johns Hopkins University studied groups of small RNAs, known as microRNAs, which are greatly decreased in brain tissue of Fragile X mice vs. normal controls.
Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse
A $90K FRAXA grant will help uncover why Fragile X causes sound hypersensitivity and test ways to correct brain circuit dysfunction linked to auditory overload.
MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X
The team studied how glial cells, especially astrocytes, affect Fragile X. They tested microRNAs to restore GLT1 and reduce excess glutamate linked to brain hyperexcitability.
Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse
We hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside.
Scientists Find a New Way to Reverse Symptoms of Fragile X
MIT Professor Mark Bear and colleagues have identified a new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target.
Cholesterol-Dependent Changes in Fragile X Astrocytes
Astrocytes and cholesterol metabolism are altered in Fragile X. This research uncovers how these changes affect the brain and may reveal new treatment targets like lovastatin.
Ketogenic Diet Eases Symptoms in Fragile X Male Mice
Westmark Lab is studying sleep patterns in Fragile X mice, working with UW-Madison to develop tools that speed EEG data analysis
Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery
Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.
Potassium Channel Modulators to Treat Fragile X
FRAXA-backed Yale discoveries tied Fragile X to Kv3.1/Slack channel defects—leading to a partnership with Autifony to develop targeted treatments.
Targeting Adiponectin to Treat Fragile X Syndrome
Boosting adiponectin, a hormone that regulates metabolism, may improve cognition and behavior in Fragile X. Early results suggest it can restore brain plasticity.
Biomarker Discovery and Validation for Fragile X Syndrome
This grant supported discovery of protein-based biomarkers for Fragile X to create objective outcome measures that translate from mouse studies to human trials.
Deep Molecular Profiling of Fragile X Mouse and Human Cells
Studying human Fragile X neurons from stem cells revealed key gene changes not seen in mice—showing why some treatments failed and guiding better future therapies.
Targeting Mitochondria in Human Fragile X Syndrome Neurons
Fragile X brain cells have fewer, smaller mitochondria. This team tested mitochondria-boosting drugs that improved symptoms in mice to see if they can help humans.
Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1
FRAXA funded UCLA research on a Kv3.1-targeting drug to ease sensory issues in Fragile X. This work built on Yale-led work now also being pursued by Autifony Therapeutics.
A Day in the Lab with FRAXA Investigator Dr. Tue Banke
Recently Laurie Bowler and her 19-year-old son Casey, who has Fragile X syndrome, visited FRAXA research grant recipient Dr. Tue Banke at his University of Washington laboratory. We hope you enjoy Laurie’s wonderful description of their adventure! FRAXA awarded $90,000 to Dr. Banke to study the Developmental Profile of Glutamatergic Synapses in Fragile X.
Gene Therapy Translational Studies for Fragile X Syndrome
With FRAXA funding, researchers tested AAV gene therapy to restore FMRP in Fragile X mice, measuring safety, effectiveness, and brain activity to inform future trials.
Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?
Many forms of FMRP exist in the brain. This project aims to pinpoint which versions of the protein are most critical to restore for effective Fragile X treatments.