Fragile X Syndrome and Air Travel
If you wish to participate in a letter writing campaign you can copy the letter below and start sending it the CEOs listed at the bottom of the page.
Meet Jacob!
Meet #FriendofFRAXA Jacob! 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.
Meet Benjamin!
Meet #FriendofFRAXA Benjamin! His smile lights up the room. He is a burst of energy! He gives the best hugs and loves to cuddle. 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.
Fragile X Syndrome: In Pursuit of a Cure Webinar
Global webinar “Fragile X Syndrome: In Pursuit of a Cure” on July 22, 2021 commemorated World Fragile X Day. Over 5,000 registered from more than 50 countries.
2021 FRAXA Awards – Recognizing Perseverance and Dedication
In conjunction with World Fragile X Day 2021, FRAXA Research Foundation is proud to recognize its annual award recipients. This year’s recipients exemplify the perseverance and dedication that has made FRAXA a global leader in Fragile X research for nearly 30 years. We are fortunate to partner with these individuals on research, community support and awareness efforts.
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! 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.
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.
Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells
Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.
Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA
We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he 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
Within the past month, FRAXA Research Foundation has signed on to join the Friends of of National Institute of Child Health and Human Development (NICHD), asking for an increase government funding to research disorders such as Fragile X syndrome.