Explore Yale’s groundbreaking study on mitochondrial leak channels, set to revolutionize Fragile X syndrome treatment. Funded by a $100,000 FRAXA grant.
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SRC Family Kinase Inhibitor as a Potential Treatment for Fragile X Syndrome
Discover the Smith lab’s new approach to treating Fragile X syndrome using Saracatinib, originally a cancer drug. Learn how this $100,000 FRAXA research grant-funded study opens up hopeful avenues.
Read moreSomatosensory Processing as a Therapeutic Target for Fragile X Syndrome
Awarded a FRAXA Research grant, Dr. Andrew Stanfield, Dr. Leena E. Williams, and Dr. Damien Wright are set to explore somatosensory processing (sense of touch) in Fragile X syndrome at the University of Edinburgh. Their aim? A noninvasive touch test that could set the stage for future clinical trials in FXS.
Read moreAntisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids
Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.
Read moreSlack Potassium Channel Inhibitors to Normalize FMR1 Knockout Mice
Learn how a $100,000 FRAXA research grant supports Yale researchers in using Slack potassium channel inhibitors to treat Fragile X syndrome by normalizing behaviors in FMR1 knockout mice.
Read moreRoles of Postnatal Transient Connectivity in the Development of Fragile X Syndrome
A $100,000 FRAXA research grant awarded to Gabrielle Pouchelon, PhD, and Dimitri Dumontier, PhD, at Cold Spring Harbor Laboratory fuels groundbreaking research on Fragile X syndrome. Their work focuses on understanding sensory sensitivities and developing a noninvasive screening method, a potential game-changer for families affected by Fragile X syndrome.
Read moreA Tat-Conjugate Approach to Treat Fragile X Syndrome
Explore Turner Lab’s novel approach to developing definitive treatment for Fragile X syndrome with a Tat-conjugated, truncated FMRP protein. This innovative strategy aims to restore brain circuit function and reduce abnormal behaviors linked to Fragile X by directly addressing the cause of Fragile X: a missing protein.
Read moreThe Endocannabinoid System and Fragile X Syndrome
Explore groundbreaking research on the potential of Cannabidiol (CBD) in modulating the endocannabinoid system for Fragile X syndrome therapy. Discover how CBD could change the natural course of Fragile X.
Read morePharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome
Join Dr. Tsai and Dr. Kumar on a journey into novel treatment avenues for Fragile X syndrome. Learn how activating mGluR7 could be a game-changer, opening up uncharted therapeutic territory.
Read moreModeling Fragile X Syndrome using Multi-Region Human Brain Organoids
Discover groundbreaking research at UCI by Dr. Watanabe and Dr. Tsai. Using cutting-edge organoid technology, they’re modeling Fragile X brain function and advancing potential treatment testing.
Read moreUsing Exosomes to Discover Fragile X Biomarkers
How can a blood test give an accurate picture of brain activity? With this grant from FRAXA, Dr. Martire and Dr. Boussadia will try to use unique particles called exosomes – which can travel from brain cells to the blood stream – to evaluate the effects treatments are having on the brain.
Read moreValidating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome
Screening and Validating Novel inhibitors of ERK Signalling to Treat Fragile X Syndrome Veronica Rasheva (undergraduate student), MoonYoung Bae (undergraduate student), Seong Eon Ha (MSc student), Asim Ahmed (MSc student), Ning Cheng (PI), Nidhi Kotikalapudi (undergraduate student), and Dorit Moehrle
Read moreAstrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome
Most Fragile X research has focused on one type of brain cells: neurons. But mounting evidence point to problems with astrocytes, star-shaped cells which are vitally important to normal brain function. This team is working to understand how astrocytes are involved in Fragile X and develop treatment approaches that targets astrocytes alone.
Read moreVersatile Drug Screening Platform for Fragile X Syndrome
Many experts believe that combinations of drugs may be needed to best treat Fragile X syndrome. How can we find the best combinations in the ideal doses? This project — a collaboration between a top university research team and an innovative AI startup both based in Belgium — tackles this challenge.
Read moreFunctional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain
The brain’s balance is maintained by two types of neurons: those that excite and those that inhibit activity. Like yin and yang, this balance is essential. This team has found fewer than normal inhibitory cells in the brains of Fragile X mice. They are now working to pinpoint this abnormality and find ways to restore the normal balance and function.
Read moreReactivating the FMR1 Gene to Reverse Fragile X Syndrome
FRAXA has awarded $140,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1.
Read moreRepurposing 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.
Read moremRNA Therapy for Fragile X Syndrome
Dr. Kathryn Whitehead, Associate Professor at Carnegie Mellon University, helped develop the revolutionary science behind the COVID-19 vaccines. With a $103,000 grant from FRAXA, her team will now adapt this technology to deliver the missing Fragile X protein, to treat people who have Fragile X syndrome.
Read moreCharacterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS
The researchers are developing next-generation drugs called peptidomimetics, using the functional features of FMRP. If they succeed, the hope is that we will have new drugs that could make up for the loss of FMRP, thus treating Fragile X syndrome.
Read moreCannabinoids as a Treatment for Fragile X Syndrome
Many people with Fragile X syndrome are hyper-sensitive to sights and sounds, and Electroencephalography (EEG) studies show that there are abnormalities in brain circuits. EEG studies show similar changes in Fragile X mice. So the team will use EEG tests in mice to find which drugs best reduce hypersensitivity. They can then easily move on to human EEG-based clinical trials. What they learn will tell us much more about why people with Fragile X are hypersensitive – and which drugs could best help them.
Read moreInhibiting 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.
Read moreExploring 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.
Read moreContribution 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.
Read moreAlternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome
Explore groundbreaking research by the University of Massachusetts Medical School and Rush University Medical Center on alternative splicing in white blood cells as a biomarker for Fragile X syndrome, paving the way for personalized treatment optimization through a non-invasive blood test.
Read moreLink Between Lipid Profile, eCBome System and Gut Microbiome 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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