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 moreAuthor: FRAXA Research Foundation
Exploring 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 moreMeet Chloe!
Meet #FriendofFRAXA Chloe! She is a bright girl who loves to make a joke and see people smile! 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.
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 more20 Years of Advancing Fragile X Research: Progress Toward a Cure
Dr. Mark Bear joined the Fragile X field in 1999 when he received a research grant from FRAXA Research Foundation. At the time, we recognized the symptoms of Fragile X, and we knew its cause: a single missing protein. But we knew very little else. Dr. Bear traces the discoveries that now give us great optimism of finding effective treatments and ultimately a cure for Fragile X.
Read moreMeet Noah!
Meet #FriendofFRAXA Noah! 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.
Read moreTetra’s Fragile X Clinical Trial – The Most Successful So Far
Dr. Mark Gurney, CEO of Tetra Therapeutics, discusses how one of the earliest clues to the biology of Fragile X led to the most successful Fragile X clinical trial to date. FRAXA and Tetra began working together after a key FRAXA-funded study caught the attention of Dr. Gurney. Through the FRAXA Drug Validation Initiative, Dr. Patricia Cogram was able to conduct preclinical validation experiments with Tetra’s lead compound in record time, paving the way for clinical trials.
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 moreRaising Awareness and Funds for Fragile X Research at Barre3
“It was a fun and sweaty way to bring the community together for a great cause and a great workout.” FRAXA thanks Katie Bolin for organizing this event and others during the month of July. We also send a special thanks to Katie Heaps, owner of Barre3 Belleview Station, for supporting the Bolin family and FRAXA.
Read moreFragile 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.
Read moreMeet 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.
Read moreMeet 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.
Read moreFragile X Syndrome: In Pursuit of a Cure Webinar
A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22, 2021 to commemorate World Fragile X Day. This complimentary event is co-organized with WuXi AppTec. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of Fragile X, and to foster collaborations towards effective treatments and ultimately a cure.
Read more2021 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.
Read moreWieber Family Journey
When Zach and Leslie Wieber started their family, they were unaware of Fragile X syndrome. Then in 2012, they received the news that changed their lives. Their sons, now ages 13, 11, and almost 10, all live with Fragile X syndrome. Like many parents, the Wiebers felt relief and fear when their children were diagnosed.
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 moreUSA Today, “Fragile X treatment: Decades later, progress in rare genetic condition”
In recent weeks, USA Today spent days with FRAXA co-founders Dr. Mike Tranfaglia and Katie Clapp, and their son Andy. Andy lives with Fragile X syndrome and is the focus of a segment of USA Today’s occasional series that explores how scientific advances are transforming care for rare diseases.
Read moreUSA 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.
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.
Read moreThe Role of Astrocyte BMP Signaling in Fragile X Syndrome
Astrocytes are star-shaped cells that make up one fifth of all cells in the human brain. Recently researchers found a specific pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug. With this grant, the team will try to correct the pathway in Fragile X mice. The hope is that they will find a new potential treatment approach for Fragile X syndrome.
Read moreMemorial Tribute to Dr. Stephen T. Warren
Dr. Stephen T. Warren passed away on June 6, 2021. In 1991, Dr. Warren discovered the genetic mutation which causes Fragile X Syndrome and named it FRAXA. Donations can be made in his honor to FRAXA Research Foundation.
Read moreMeet 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.
Read moreIdentifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles
Why is it so hard to find the right medications to help people with Fragile X syndrome? Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.
Read morePreclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells
With a $90,000 research grant from FRAXA, Dr. Cara Westmark’s team will use mice to determine if more palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.
Read moreDrug 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.
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