2021 FRAXA Awards – Recognizing Perseverance and Dedication
In conjunction with World Fragile X Day 2021, FRAXA Research Foundation recognizes its annual award recipients. We are fortunate to partner with these individuals for Fragile X families.
Wieber Family Journey
In 2012, Zach and Leslie Wieber learned all three of their sons have Fragile X syndrome it was a moment filled with both relief and fear.
Link 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 has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut.
USA Today, “Fragile X treatment: Decades later, progress in rare genetic condition”
USA Today profiled FRAXA co-founders Mike Tranfaglia, Katie Clapp, and their son Andy, highlighting how science is transforming rare disease care.
USA Today Video, “Living with Fragile X Syndrome: ‘He is growing… it’s just really slow'”
Born with Fragile X Syndrome, a rare developmental disorder, Andy Tranfaglia, thrives with the help of his parents and a community of supporters.
Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Model
Microglia are excessively activated in Fragile X models. The team will investigate the mechanisms and attempt to correct this using drugs.
The Role of Astrocyte BMP Signaling in Fragile X Syndrome
Researchers found a pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug.
Memorial Tribute to Dr. Stephen T. Warren
Dr. Stephen T. Warren, who discovered the Fragile X gene (FRAXA) in 1991, passed away June 6, 2021. Donations in his honor support FRAXA Research.
Meet Tyler!
Meet #FriendofFRAXA Tyler! Tyler enjoys visiting cemeteries to find his ancestors and loved ones. He also loves baking, listening to music, and going to train shows.
Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles
Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.
Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA
We suspected that clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance. Dr. Patrick does find tolerance, and is looking for ways to overcome it.
We Started Out Small, Now Look…
Join FRAXA in lighting up the world on July 22 for World Fragile X Day—together, we shine teal for Fragile X awareness!
NPR Feature – A Fragile X Treatment May Be On The Horizon
NPR’s Jon Hamilton looks back on a decade of Fragile X progress and the Tranfaglia family’s quest for a cure. Hear their story on NPR Short Wave.
Pharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)
This study tested CBD (cannabidiol) treatment in male and female Fragile X mice to learn how and why it works and whether gender affects responses to CDB treatment.
NPR Short Wave, “A Fragile X Treatment May Be On The Horizon”
Katie Clapp and Michael Tranfaglia’s son was born with a genetic disorder that affects brain development. It makes it hard to learn language and basic daily tasks and often is accompanied by a host of other disorders. To help find a cure, they started a foundation and raised research money. After se…
Holly Roos Joins the FRAXA Team!
We’re thrilled to welcome Holly Roos, longtime Fragile X advocate, as FRAXA’s new Community Services Director!
Brain & Life, “A Mom Leads Efforts to Cure Fragile X Syndrome for Her Son and Others”
We haven’t found a cure yet, but we’ve moved closer to understanding fragile X syndrome and identifying treatment targets. We hope this will help our son and other families dealing with this life-changing condition.
Cellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome
The team studied how inhibitory brain circuits malfunction in Fragile X and tested ways to restore balance by targeting mGluR and endocannabinoid signaling.
FRAXA Supports Increased Funding for NICHD
FRAXA has joined the Friends of NICHD coalition, urging increased government funding for research into Fragile X and related conditions.
Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X
FRAXA-funded studies found Fragile X mice show altered auditory circuit function with delayed startle timing and reduced prepulse inhibition, mirroring human sound sensitivity.
Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey
In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause through a series of disappointing clinical trials.
Educating Young Children with Fragile X Syndrome
We share strategies, tips, techniques, and stories to help teachers and therapists who are working with young children who have Fragile X syndrome.
The Why and How of FRAXA’s Work to Find a Cure for Fragile X
Thank you Talk Fragile X for having FRAXA’s cofounder Katie Clapp on your podcast! She shared our motivation for finding effective treatments and ultimately a cure for Fragile X.
Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach
Presentations by Craig Erickson, Ernest Pedapati, Devin Binder, and Kimberly Huber about their research on Fragile X as part of their NIH Center of Excellence.