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 moreCurrent Research Grants
Using 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 moreTargeting Cognitive Function in Fragile X Syndrome
It has long been assumed that the differences between males and females with Fragile X were simply a matter of degree, with males being more severely affected. But gender differences may be far reaching. This team is working to understand imbalances in how the brain’s neurons transmit signals, with a focus on how differently males and females learn and experience anxiety. They are studying two neuronal pathways which are promising targets for treatment.
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 moreDevelopmental Motor Phenotype in Fragile X Syndrome
One of the lesser known signs of Fragile X is unsteady walking. This is also very easy to evaluate in the clinic: no blood tests are required! With a $100,000 grant from FRAXA Research Foundation, this team will develop objective new outcome measures of gait for future treatment trials and also to see if exercise could improve other symptoms of Fragile X.
Read morePharmacological Modulation of Nicotinic Signaling
Nicotine — familiar to any smoker — tickles nicotinic acetylcholine receptors in the brain. These receptors are key to important brain functions including learning and memory. This team will explore whether drugs that dampen these receptors can improve cognitive function in Fragile X.
Read moreSigma-1 Receptor as a Therapeutic Target for Fragile X Syndrome
Dr. Pouladi’s team is exploring a treatment of Fragile X via the sigma-1 receptor. Drugs that boost activity at sigma receptors tend to calm down overactive neurons. They are also powerful anti-inflammatory drugs.
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 moreHuman FMR1 Isoform-Specific Regulation of Translation and Behavior
Fragile X syndrome is caused by lack of one protein, FMRP. But this one protein occurs in different variations. Do the different versions of FMRP have different roles in the brain, and if so, is there one that’s key? If we could replace FMRP to treat Fragile X syndrome, which version would we use?
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 moreTargeting Serotonin 1A Receptors in Fmr1 Knockout Mice
Dr. Canal has discovered a promising treatment approach for Fragile X syndrome: new compounds which specifically and potently boost serotonin in the brain. The target is the brain’s serotonin 1A receptor.
Read moreTranscriptional Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome
The Fragile X field needs biomarkers to accurately measure the effects of potential treatments in both Fragile X mice and in humans. Dr. Ozaita and his team have found molecular features in the brain that can serve as an objective signature for the syndrome. They will use this tool to test cannabidiol and two other drugs in mice.
Read moreCharacterization and Modulation of microRNAs in Fragile X Syndrome
Could microRNAs be a new path to treatment of Fragile X syndrome? MicroRNAs are disrupted in Fragile X, and so this team will work to understand what is going wrong and explore ways to correct it with drugs which directly target microRNAs.
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 moreRecruiting: 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.
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 morePurposeful 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 trial to test the effects of an available drug and a nutritional supplement taken together.
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.
Read moreCharacterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Model
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 syndrome solving one more piece of the Fragile X brain puzzle.
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