Dr. Maquat, 2023 Gruber Genetics Prize winner, discovered NMD, a key surveillance system in the body that protects against mistakes in gene expression. Her groundbreaking research has led to new therapies for Fragile X syndrome.
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Coming Together for Rare Disease Day 2023
Today, February 28, we mark Rare Disease Day, a day dedicated to raising awareness about rare diseases and highlighting the need for continued research and collaboration. At FRAXA Research Foundation, we are committed to advancing research on Fragile X syndrome, one of the most common rare diseases worldwide.
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Sex-specific Learning Differences Found in Fragile X Patients, Mouse Model
Girls and women with Fragile X syndrome show different learning impairments relative to boys and men with the disease, a finding that was paralleled in a mouse model of the disease, a study found.
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Targeting 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.
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Validating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome
One promising treatment approach for Fragile X syndrome is to inhibit on a neuronal pathway, ERK. ERK inhibitors are also being studied as treatments for other disorders including autism.
This team has conducted pilot studies showing that ERK inhibitors are very effective in reversing signs of disease in Fragile X mice. With this grant from FRAXA they will take the next steps toward possible clinical trials of an ERK inhibitor for individuals who have Fragile X syndrome.
A Look Back at 2022 and Ahead to 2023 Research Prospects
This holiday season you proved that the adage “actions speak louder than words” is entirely accurate. We sincerely appreciate your gifts in action. FRAXA supporters came out in full force to meet the generous $100,000 challenge offered on Giving Tuesday.
Read moreTargeting Serotonin 1a Receptors to Reverse Neurobehavioral Phenotypes
Neurolixis’ new drug targets serotonin 1A receptors, showing promise in preclinical studies for Fragile X syndrome, funded by a FRAXA grant for future clinical trials.
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Meet Ryder!
Meet #FriendofFRAXA Ryder! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
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10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram
In this video we hear from FRAXA Investigators Dr. Patricia Cogram, Professor at the University of Chile, and Dr. Elizabeth Berry-Kravis, Professor at Rush University Medical Center as they reflect on the progress that has been made and visualize what they see happening in the next 10 years for people living with Fragile X syndrome.
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Developmental 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.
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$269,774 Raised for Fragile X Research on #GivingTuesday
Thank you very much for being a part of yet another fantastic and historic #GivingTuesday! FRAXA raised a total of $269,774 with our matching contributions!! This is incredible. Our work would be impossible without you.
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A Note of Thanks and Hope on This Giving Tuesday
Why is Fragile X research so important? Every advance in Fragile X brings us all closer to discovering treatments for autism and other brain disorders. We are truly grateful to everyone who has helped FRAXA fund groundbreaking research. Thanks to you, we have hope.
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Clinical Trial Results Reported for Phase 3 CONNECT-FX Study of Zygel™
Results have just been published from Zynerba Pharmaceuticals’s phase 3 clinical trial of Zygel™ in the Journal of Neurodevelopmental Disorders. In this trial, 212 children and adolescents aged 3 to 17 years were given Zygel or placebo for 12 weeks.
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Sigma-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.
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Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra
With a $200,043 grant from FRAXA Research Foundation, Dr. Elizabeth Berry-Kravis completed a successful Phase 2 clinical trial of a PDE4 inhibitor for adult men with Fragile X syndrome. This trial treated 30 males, 18-45 years of age with a new PDE4D allosteric inhibitor from Tetra Discovery Partners using a crossover design, so that everyone got active drug for part of the time and placebo for part of the time.
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$19,600 Raised For Fragile X Research at Callum Cup VI
The Callum Cup is back & as popular as ever! This annual intra-club charity match is the marquee event of the Millburn FC soccer calendar. After 7 years, the Callum Cup matches have raised $94,600 for Fragile X research.
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Versatile 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.
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Human 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?
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Meet Conor!
Meet #FriendofFRAXA Conor! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
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Meet Tobias!
Meet #FriendofFRAXA Tobias! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
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Functional 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.
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Targeting 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.
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FRAXA Volunteer Participates in Peer Reviewed Medical Research Program for the Department of Defense
FRAXA nominated advocate, Jennifer Frobish, recently evaluated research applications submitted to the Peer Reviewed Medical Research Program (PRMRP) of the Congressionally Directed Medical Research Programs (CDMRP).
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Families Come from Multiple States for Flatbread Pizza Fundraiser
The world seems less scary. We were invited to the pizza party where we met Katie and so many other families. We were welcomed like family! It was such a good feeling to not be alone and have people understand your daily struggles and want change, like you, for Fragile X families.
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Patrick’s PALS 3-on-3 Basketball Tournament Returns with a Big Impact
The triumphant return of Patrick’s PALS 3-on-3 Basketball Tournament after a hiatus of three years. With the help of Shady Hill School, the event raised close to $150,000 for FRAXA Research Foundation.
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